tag:theconversation.com,2011:/uk/topics/ovarian-cancer-1005/articlesOvarian cancer – The Conversation2024-02-08T13:38:26Ztag:theconversation.com,2011:article/2145432024-02-08T13:38:26Z2024-02-08T13:38:26ZBreastfeeding benefits mothers as much as babies, but public health messaging often only tells half of the story<figure><img src="https://images.theconversation.com/files/558172/original/file-20231107-19-cjfj8i.jpg?ixlib=rb-1.1.0&rect=23%2C23%2C7961%2C5303&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Breastfeeding lowers the risk of diabetes as well as breast and ovarian cancers for mothers.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/smiling-mom-holding-her-baby-boy-in-her-arms-while-royalty-free-image/1370476365?phrase=black+mothers+breastfeeding&adppopup=true">Goodboy Picture Company/E+ via Getty Images</a></span></figcaption></figure><p>Four babies are born <a href="https://www.theworldcounts.com/populations/world/births">every second in the world</a>, and there are only two options for their first food at birth: human milk or formula. </p>
<p>Global and U.S. health authorities agree, however, that human milk provides the optimal nutrition for infants. The World Health Organization and the American Academy of Pediatrics <a href="https://www.who.int/health-topics/breastfeeding#tab=tab_2">recommend exclusive breastfeeding</a> for the <a href="https://doi.org/10.1542/peds.2022-057988">first six months of an infant’s life</a>. Following the introduction of solid foods, these organizations recommend continued breastfeeding up to two years and beyond. </p>
<p>Human milk can be given to infants directly through breastfeeding or by pumping or expressing human milk into a cup or bottle. The health benefits of breastfeeding and human milk for infants stem from its composition, which includes <a href="https://www.aap.org/en/patient-care/newborn-and-infant-nutrition/newborn-and-infant-breastfeeding/">vitamins, minerals and antibodies</a> that can prompt its composition to change over time to meet the growing infant’s needs. The dynamic nature of human milk leads to commonly known benefits, such as <a href="https://doi.org/10.1111/apa.13151">lower risks of ear</a> and <a href="https://doi.org/10.1111/apt.14291">gastrointestinal infections among infants</a> who are breastfed. </p>
<p>However, there are other benefits for infants that many people aren’t aware of, as well as for the breastfeeding mother and society.</p>
<p>We are women’s health scholars with combined professional expertise in <a href="https://sc.edu/study/colleges_schools/nursing/faculty-staff/riversj.php">maternal obstetrics nursing</a> and <a href="https://sc.edu/study/colleges_schools/nursing/faculty-staff/feldert.php">public health</a>. Together, we co-founded <a href="https://www.instagram.com/mochamamasmilk/">Mocha Mamas Milk</a>, a research and support initiative focused on improving <a href="https://doi.org/10.1177/01939459211045431">breastfeeding among Black families in South Carolina</a>, a <a href="https://www.cdc.gov/mmwr/volumes/66/wr/mm6627a3.htm">state where just 55.1% of Black infants are breastfed</a>, compared with 75.2% of white infants. </p>
<p>Human milk is personalized medicine that can benefit both the mother and infant. We are personally and professionally passionate about this because many people are not aware that some of these benefits can save lives and reduce persistent health disparities.</p>
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<figcaption><span class="caption">Breast milk provides benefits to the infant that no other food source can.</span></figcaption>
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<h2>Lesser-known benefits of breastfeeding for infants</h2>
<p>One significant benefit of breastfeeding not widely known by the public is its ability to lower the risk of <a href="https://www.childrenshospital.org/conditions/sudden-infant-death-syndrome-sids#">sudden infant death syndrome</a>, or SIDS. SIDS, sometimes referred to as “crib death,” is the unexplained death of a baby, usually under 1 year of age. </p>
<p>Some risk factors include stomach- or side-lying sleep, low birth weight, sleeping on a soft surface or overheating. A large analysis of studies found that infants who received any human milk for at least two months had nearly a <a href="https://doi.org/10.1542/peds.2017-1324">50% lower risk of SIDS</a>. </p>
<p>This reduction is notable for two reasons. First, the reduction in risk occurs about 60 days following birth, which is several months before the six-month exclusive breastfeeding guideline is met. Second, the protection from SIDS was the same for infants who were exclusively breastfed compared to infants who may have received formula in addition to any breastfeeding. </p>
<p>In addition, breastfeeding can <a href="https://doi.org/10.1016%2Fj.pcl.2012.09.008">significantly protect premature infants</a> – those <a href="https://www.who.int/news-room/fact-sheets/detail/preterm-birth">born before 37 weeks of pregnancy</a> – from developing a condition called <a href="https://www.ncbi.nlm.nih.gov/books/NBK513357/#">necrotizing enterocolitis</a>, an inflammation of the intestines that <a href="https://doi.org/10.3390/nu12051322">can be fatal</a>. While this condition is rare in full-term infants, it <a href="https://doi.org/10.1097%2FNNR.0000000000000483">occurs in 5% to 15% of preterm infants</a>.</p>
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<h2>Benefits for mom, too</h2>
<p>Breastfeeding also provides important benefits for the mother, such as reducing <a href="https://doi.org/10.1001/jama.294.20.2601">risks of diabetes</a> and <a href="https://doi.org/10.1016/s0140-6736(02)09454-0">breast</a> and <a href="https://doi.org/10.1001/jamaoncol.2020.0421">ovarian cancers</a>. Breastfeeding for any length of time compared to never is associated with a <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4855244">10% decrease in hormone receptor-negative breast cancers</a>, which are more common in younger women. These cancers cannot be treated with hormonal therapy and <a href="https://www.cancer.org/cancer/types/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html">often grow faster</a> than the more commonly diagnosed hormone receptor-positive breast cancers. </p>
<p>The reduction in risk from breastfeeding is even greater for Black women, who are more likely to be diagnosed with these hormone receptor-negative breast cancers and <a href="https://doi.org/10.1158/1055-9965.EPI-20-1784">have worse prognoses and fewer treatment options</a>. Any way of reducing the risk for Black women is critically important because, compared to white women, Black women are 40% more likely to die from breast cancer, <a href="https://www.cancer.org/research/acs-research-news/breast-cancer-death-rates-are-highest-for-black-women-again.html">yet 4% less likely to be diagnosed </a> with the disease.</p>
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<figcaption><span class="caption">Tisha Felder explains the vision behind Mocha Mamas Milk to help improve the way that Black mothers think about breastfeeding. Figures presented in the 2021 film were from the National Immunization Survey, 2011–2015.</span></figcaption>
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<p>There is also growing research suggesting the positive impact of breastfeeding on a mother’s mental health. One possible reason for this is that <a href="https://www.yourhormones.info/hormones/oxytocin/">oxytocin</a> – often <a href="https://www.health.harvard.edu/mind-and-mood/oxytocin-the-love-hormone">called the “love hormone” because of its association with bonding</a> – plays a <a href="https://doi.org/10.1016%2Fj.ijnss.2019.09.009">role in the maternal-infant bonding process</a>. </p>
<p>After delivery, the release of oxytocin causes human milk to flow – a process called the <a href="https://www.ncbi.nlm.nih.gov/books/NBK148970/#">letdown reflex</a> – and initiate breastfeeding. This release of milk can satisfy the new baby and leave the mom with “warm and fuzzy” feelings toward her baby. Research also suggests that breastfeeding can <a href="https://doi.org/10.1017/s0033291713001530">reduce the risk of depression </a>. A 2021 study also found that the longer a woman breastfed, <a href="https://doi.org/10.1111/phn.12969">the lower her risk for postpartum depression</a>. </p>
<h2>Closing racial gaps</h2>
<p>Despite the benefits of breastfeeding to both infants and mothers, few U.S. families are able to sustain breastfeeding over time. The Centers for Disease Control and Prevention 2022 Breastfeeding Report Card – the latest data that is currently available – shows that more than 80% of infants start out receiving human milk, yet just over a quarter of them <a href="https://www.cdc.gov/breastfeeding/pdf/2022-Breastfeeding-Report-Card-H.pdf">are exclusively breastfed through six months</a>.</p>
<p>Black infant-mother pairs not only have the lowest breastfeeding rates in South Carolina, but they also have the lowest rates nationally, compared to other U.S. racial and ethnic groups. More recent data from the National Vital Statistics System of U.S. infants born in 2020 and 2021, shows that <a href="https://www.cdc.gov/pcd/issues/2023/23_0199.htm">only 74.5% of Black infants were breastfed</a>, compared with non-Hispanic Asian infants (90.1%), non-Hispanic white infants (84.0%) and Hispanic infants (86.8%), based on analysis of birth records collected by the CDC. </p>
<p>Black infants are also more likely <a href="https://www.ncbi.nlm.nih.gov/books/NBK513376/">to die from SIDS</a> and to be born prematurely. So <a href="https://www.contemporarypediatrics.com/view/breastfeeding-least-2-months-provides-sids-protection">increasing breastfeeding among Black families</a> could lead to saving significantly more Black infant lives. </p>
<p>The Southeast U.S. is where the <a href="https://www.cdc.gov/mmwr/volumes/70/wr/mm7021a1.htm?s_cid=mm7021a1_w">widest racial gaps in breastfeeding exist</a>. In addition, infants living in Southern states are <a href="https://doi.org/10.1038%2Fs41372-022-01535-x">less likely to achieve national goals for breastfeeding</a> at 6 or 12 months old compared to infants living in other regions of the country.</p>
<h2>Removing barriers to breastfeeding</h2>
<p>Reducing barriers is critical to closing racial and geographic gaps in breastfeeding and allowing U.S. mothers and their infants the opportunity to benefit from the life-saving qualities of human milk. Studies show that addressing work-related barriers by making investments in paid family leave, for example, could <a href="https://doi.org/10.1016/j.ehb.2023.101308">increase exclusive breastfeeding rates by 15%</a>. </p>
<p>The U.S. is one of the only countries in the world that <a href="https://www.worldpolicycenter.org/policies/is-paid-leave-available-for-both-parents-of-infants">does not provide national paid family leave</a>. </p>
<p>Workplaces that support breastfeeding breaks and provide safe and clean spaces for expressing and storing human milk are also <a href="https://www.unicef.org/sites/default/files/2019-07/UNICEF-policy-brief-family-friendly-policies-2019.pdf">important in promoting breastfeeding</a>. Given that U.S. women’s labor force participation rates are <a href="https://www.bls.gov/opub/ted/2023/labor-force-participation-rate-for-people-ages-25-to-54-in-may-2023-highest-since-january-2007.htm">at a record high</a>, the importance of reducing barriers in the workplace cannot be overstated.</p>
<p>The U.S. Agency for International Development estimates that every U.S. dollar invested in breastfeeding <a href="https://www.usaid.gov/global-health/resources/fact-sheets/breastfeeding#">yields $35 in economic returns</a>.</p>
<p>Societal investments in breastfeeding-friendly workplace policies will not only yield cost savings and extend breastfeeding rates, but they will shift the burden of breastfeeding from simply being an individual choice to being a public health priority.</p><img src="https://counter.theconversation.com/content/214543/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Tisha Felder receives funding from the Patient Centered Research Outcomes Institute (PCORI) and National Institutes of Health (NIH).</span></em></p><p class="fine-print"><em><span>Joynelle Jackson receives funding from Patient Centered Research Outcomes Institute (PCORI). </span></em></p>Some states, especially in the Southeastern US, have large disparities in breastfeeding among racial groups, making clear the need to lower barriers for breastfeeding in the workplace and elsewhere.Tisha Felder, Associate Professor of Behavioral Sciences, University of South CarolinaJoynelle Jackson, Associate Professor of Nursing, University of South CarolinaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/2070082023-06-13T06:26:48Z2023-06-13T06:26:48ZDon’t believe the hype. ‘Egg timer’ tests can’t reliably predict your chance of conceiving or menopause timing<figure><img src="https://images.theconversation.com/files/530788/original/file-20230608-27-rgqeqd.jpg?ixlib=rb-1.1.0&rect=0%2C603%2C4025%2C2408&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://unsplash.com/photos/AeZncpkqMVU">Caleb George/Unsplash</a></span></figcaption></figure><p>Many women who want to have children and are getting older worry about their fertility. The “egg timer” blood test is <a href="https://bmjopen.bmj.com/content/11/7/e046927">marketed</a> as an empowering way to give women insights to help them plan when to have children. </p>
<p>Online companies are now also selling the test directly to consumers to do at home, <a href="https://www.sciencedirect.com/science/article/abs/pii/S0277953619306926">promoting the test</a> as a way for women to decide when to have a baby, even if they aren’t thinking of having one any time soon.</p>
<p>But it <a href="https://www.frontiersin.org/articles/10.3389/fendo.2021.695157/full">can’t reliably predict</a> the <a href="https://jamanetwork.com/journals/jama/fullarticle/2656811">likelihood of pregnancy</a> or how long it would take to get pregnant. </p>
<p>Despite this, egg timer testing is promoted to women not undergoing IVF as a way to assess their current and future fertility. </p>
<p>Our <a href="http://dx.doi.org/10.1136/bmjopen-2020-046927">analysis</a> of Australian and New Zealand fertility clinic websites found some claimed the test could predict a woman’s chance of conceiving or identify women at risk of early menopause.</p>
<h2>What can and can’t the test do?</h2>
<p>The test measures the level of anti-Mullerian hormone (AMH) in the blood and is known clinically as an AMH test. </p>
<p>AMH is produced by follicles in the ovaries (little fluid-filled sacs that contain immature eggs) and helps follicles and eggs grow during the menstrual cycle. Because the number of follicles in the ovaries drops with increasing age, the level of AMH also falls.</p>
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<img alt="African-Australian woman puts headphones on" src="https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=900&fit=crop&dpr=1 600w, https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=900&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=900&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1131&fit=crop&dpr=1 754w, https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1131&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/530789/original/file-20230608-19-jdt55.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1131&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">AMH testing can be used to indicate whether a medical condition or treatment, such as chemotherapy, has affected a woman’s ovarian reserve.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/photos/d7JCyFstmqM">Dushawn Jovic/Unsplash</a></span>
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<p>The AMH level <a href="https://doi.org/10.1530/EJE-19-0373">indicates</a> the number of eggs in the ovaries, or ovarian reserve. </p>
<p>It is often used in IVF treatment, as it <a href="https://doi.org/10.1093/humupd/dms041">can suggest</a> how many eggs a woman may get when her ovaries are stimulated with fertility drugs. </p>
<p>But it can’t tell you anything about egg quality. Women with low AMH levels have the <a href="https://jamanetwork.com/journals/jama/fullarticle/2656811">same chance</a> of conceiving as women with normal AMH levels.</p>
<p>It also <a href="https://academic.oup.com/humupd/article/29/3/327/6990969">can’t reliably predict</a> menopause <a href="https://pubmed.ncbi.nlm.nih.gov/30032277/">timing</a> for individual women. </p>
<p>Because of this, the American College of Obstetricians and Gynaecologists <a href="https://pubmed.ncbi.nlm.nih.gov/30913192/">strongly discourages</a> AMH testing in women who are not seeking fertility treatment. It states the test:</p>
<blockquote>
<p>should not be ordered or used to counsel women who are not infertile about their reproductive status and future fertility potential. </p>
</blockquote>
<p>No similar guidance has been published by the relevant colleges in Australia. </p>
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Read more:
<a href="https://theconversation.com/womens-fertility-does-egg-timer-testing-work-and-what-are-the-other-options-109726">Women's fertility: does 'egg timer' testing work, and what are the other options?</a>
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<h2>Who gets AMH tests and why?</h2>
<p>The test isn’t Medicare-subsidised. Most AMH tests are paid for privately by consumers, costing around A$80-$120. Because of this, data on current test usage is not publicly available. </p>
<p>To find out how many women in Australia are accessing AMH testing and why, we conducted the <a href="https://academic.oup.com/humrep/advance-article/doi/10.1093/humrep/dead111/7193900?searchresult=1">first investigation</a> into its use in Australia.</p>
<p>We surveyed a representative sample of 1,773 women aged 18 to 55, recruited through the <a href="https://srcentre.com.au/our-research/life-in-australia-study">Life in Australia</a> national study.</p>
<p>We asked them if and how they had heard about AMH testing, whether they had ever had an AMH test, their main reason for testing and how they accessed the test.</p>
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<img alt="Woman in jeans sits, cross-legged" src="https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/530791/original/file-20230608-25-2bax4c.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">We asked Australian women about their use of AMH testing.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/photos/L1kLSwdclYQ">Imani Bahati/Unsplash</a></span>
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<p>Our results, published today, show 13% of the women had heard about AMH testing and 7% had had an AMH test.</p>
<p>The majority had the test for medically indicated reasons, such as during infertility investigations (51%), or to find out if a medical condition had affected their fertility (11%). This included having had chemotherapy or radiotherapy, endometriosis, thyroid issues, and others.</p>
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Read more:
<a href="https://theconversation.com/young-people-with-cancer-should-have-affordable-options-to-preserve-their-fertility-63457">Young people with cancer should have affordable options to preserve their fertility</a>
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<p>Concerningly, one-third reported having had the test for other reasons. This included gaining insights into their fertility or inform their reproductive life planning (30%). </p>
<p>Most women who had an AMH test first heard about it from their GP or fertility specialist, suggesting doctors are currently the main drivers of test uptake. </p>
<p>However this may change with the recent emergence of direct-to-consumer AMH testing in Australia, as online companies increase their marketing.</p>
<h2>What are the downsides of having an AMH test?</h2>
<p>Getting the test to inform you about your fertility may lead you to make choices based on a false premise. </p>
<p>If you get a normal or high AMH result, it may give a false sense of security about delaying pregnancy, when age is the most important factor of female fertility. </p>
<p>If you receive a low result, it may cause unwarranted anxiety about not being able to conceive. This may cause pressure to conceive earlier than desired, or create a <a href="https://www.publish.csiro.au/PY/PY18040">sense of urgency</a> and haste towards fertility treatment, such as <a href="https://doi.org/10.1080/02646838.2016.1275533">egg freezing</a>.</p>
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<img alt="Woman sits on her longeroom floor, looking at her laptop" src="https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/530792/original/file-20230608-18-n32955.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Women need good evidence about the limitations of AMH testing.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/photos/Nv-vx3kUR2A">Unsplash/Thought Catalog</a></span>
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<p>To make informed decisions about AMH testing, women need clear, evidence-based information. We have developed and are currently testing an evidence-based information guide to assist with this.</p>
<h2>Can other tests tell me about my fertility?</h2>
<p>Unfortunately, there is no reliable test of a woman’s fertility. </p>
<p>But it’s important to know a woman’s age is the greatest predictor of her chance of pregnancy. The only real way to know your fertility is by trying to get pregnant when you are ready.</p>
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<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/women-are-often-told-their-fertility-falls-off-a-cliff-at-35-but-is-that-right-189978">Women are often told their fertility 'falls off a cliff' at 35, but is that right?</a>
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<img src="https://counter.theconversation.com/content/207008/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Tessa Copp is supported by an NHMRC Emerging Leader Research Fellowship (2009419). She is on the Scientific Committee of the Preventing Overdiagnosis Conference. </span></em></p><p class="fine-print"><em><span>Jenny Doust receives funding from Centre of Research Excellence on Women and Non-communicable Diseases (CRE-WaND) NHMRC APP1153420. </span></em></p><p class="fine-print"><em><span>Karin Hammarberg works part-time for the Victorian Assisted Reproductive Treatment Authority.</span></em></p>The ‘egg timer’ blood test is marketed as an empowering way to give women insights to help them plan when to have children. Problem is, it can’t deliver what it promises.Tessa Copp, NHMRC Emerging Leader Research Fellow, University of SydneyJenny Doust, Clinical Professorial Research Fellow, The University of QueenslandKarin Hammarberg, Senior Research Fellow, Global and Women's Health, School of Public Health & Preventive Medicine, Monash UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1974242023-02-01T19:10:49Z2023-02-01T19:10:49ZKath O'Connor was writing a novel about her grandmother’s ovarian cancer when she was diagnosed, too. She died before it was published<figure><img src="https://images.theconversation.com/files/505811/original/file-20230123-14-x2323w.jpg?ixlib=rb-1.1.0&rect=17%2C8%2C5973%2C3979&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Ivan Samkov/Pexels</span>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>The concept of death has preoccupied people for probably as long as people have existed. Nonetheless, we are are practised at avoiding, forgetting or suppressing the inevitability of our own death. We write about death in philosophy and medicine and sociology, and in fiction too. But typically, these writings locate death “out there”, as an event or a case. </p>
<p>It is rarer for literature to focus on a person who is confronting their own death. <a href="https://theconversation.com/friday-essay-george-eliot-200-years-on-a-scandalous-life-a-brilliant-mind-and-a-huge-literary-legacy-127438">George Eliot</a>’s Middlemarch provides one famous example of this approach. Casaubon, on receiving his hopeless prognosis, <a href="http://www.literaturepage.com/read/middlemarch-436.html">becomes aware</a> of the heartwrenching difference between “we must all die”, and “I must die – and soon”. </p>
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<p><em>Review: Inheritance – Kath O'Connor (Affirm Press)</em></p>
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<p>In recent years, several Australian novels have explored this topic. I think here of Debra Adelaide’s 2008 novel <a href="https://www.smh.com.au/entertainment/the-household-guide-to-dying-20080614-gdshui.html">The Household Guide to Dying</a>, in which the narrator spends her own terminal cancer writing a “guide” to the long, complicated process of becoming dead. </p>
<p>I think too of Georgia Blain’s 2016 novel <a href="https://sydneyreviewofbooks.com/review/between-a-wolf-and-a-dog-georgia-blain/">Between a Wolf and a Dog</a>, which similarly traces what Hilary, the central character, does to wrap up her life after being diagnosed with aggressive cancer. (Cruelly, Blain was herself diagnosed with the cancer that would kill her just as she was working on the edits of the manuscript.) </p>
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Read more:
<a href="https://theconversation.com/goodbye-georgia-blain-a-brave-and-true-chronicler-of-life-70329">Goodbye Georgia Blain: a brave and true chronicler of life</a>
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<h2>Fiction, but close to memoir</h2>
<p>Now we have Kath O’Connor’s debut novel, Inheritance, a work of fiction that is very close to being memoir. O’Connor’s grandmother, we learn in the opening notes, carried the <a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">BRCA1</a> gene mutation, which caused her death from ovarian cancer. O’Connor, who carried the same mutation, was diagnosed with the same disease, and wrote this novel during her treatment. </p>
<p>Tragically, she died shortly before completing the work, leaving it to her partner, her writing mentor Inga Simpson, and family members to bring it to publication.</p>
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<a href="https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=599&fit=crop&dpr=1 600w, https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=599&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=599&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=753&fit=crop&dpr=1 754w, https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=753&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/505812/original/file-20230123-20-nrew7g.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=753&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Kath O'Connor died shortly before completing this book – her writing mentor, Inga Simpson, helped bring it to publication.</span>
<span class="attribution"><span class="source">Affirm Press</span></span>
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<p>The novel works across two stories, and two voices. The first is that of Rose, a contemporary woman living in Melbourne with her partner Salima. In her professional life she is an oncologist, who works to heal cancer patients, or help them to die. In her private life she is rather resentfully caring for her difficult drunken father, Eddie, and more optimistically contemplating IVF so she and Salima can start a family. </p>
<p>But in the very first chapter, Rose gets a call from the fertility specialist to confirm that her BRCA test was positive. That is to say, without a total hysterectomy and a bilateral mastectomy, she is at risk of dying early. </p>
<p>The other voice and story belong to Rose’s grandmother, Nellie. The second chapter, in which Nellie’s narrative begins, is a portrait of rural life: of rhubarb chutney, of chickens and fresh-laid eggs, of a determination to be satisfied in her unsatisfactory marriage to a taciturn husband. </p>
<p>Nellie lives in 1945 regional Victoria with John and their two little sons. After a youth of political activism, higher education and making plans for a career, she now busies herself with the daily tasks of cooking and cleaning and managing her family. And she does not know that she carries what Rose calls the BCRA “sleeping time-bomb”, or that she already has the beginnings of the <a href="https://theconversation.com/ovarian-cancer-is-not-a-silent-killer-recognizing-its-symptoms-could-help-reduce-misdiagnosis-and-late-detection-181415">ovarian cancer</a> that will kill her.</p>
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<p>
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Read more:
<a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">Angelina Jolie has had a double mastectomy, so what is BRCA1?</a>
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<h2>Cancer in the 1940s, and 2016</h2>
<p>This opening links the two women, and simultaneously, in its shifting voice, setting and points of view, teases out the difference that some 80 years can make to a life, its prospects and opportunities. Nellie, for instance, speaks to us directly, while Rose comes to us only through the third person. Nellie is self-deprecating and diffident, while Rose is – at least in her professional self – all cool medical precision. </p>
<p>Nellie is an object of the system: not trusted to make her own decisions; subjected to the horrors of 1940s cancer treatment; separated from her beloved little sons, on the basis this is no place for children. Rose, by contrast, is directly informed about her genetic inheritance, and trusted to make her own decision about treatment. And yes, 2016 cancer treatment is still brutal, but Rose’s patients are more likely to be treated as individuals, to be honestly informed about their situation, to be given the presumption of agency.</p>
<p>I am usually very reluctant to draw a connection between an author and their characters, but given O’Connor’s history as a GP, it’s easy to hear in the narrator’s reflections the professional training the author brings to the story. It’s also easy to see the shift from the scientific gaze to that of the sometimes frightened, sometimes fractious human being. </p>
<p>Plenty of passages show the confident articulation of the medical professional. But plenty of passages, too, show the anxious, generous, resentful, loving, complex mix of qualities that make up most individuals – that make up Rose, and Nellie, and the other characters, and indeed the whole social realm.</p>
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<em>
<strong>
Read more:
<a href="https://theconversation.com/brace-yourself-genetic-testing-might-give-you-more-than-you-bargained-for-40246">Brace yourself, genetic testing might give you more than you bargained for</a>
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<h2>Inheriting a social conscience</h2>
<p>I’ve read this as a novel about death and dying; but it is equally a novel about society, and social justice – and this is another inheritance Nellie passes on to her descendants. Nellie’s dearest childhood friend Ruth is a political activist, and was a dedicated Communist until disillusioned by the Party’s refusal to “put women’s rights on the agenda”. </p>
<p>Nellie too briefly joined the Party, but discovered the consolations of being ordinary and withdrew to a quieter life. Ruth, though, retained a powerful voice for women’s rights and human rights, and this becomes the germ of the social conscience possessed by Nellie’s descendants.</p>
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<p>During Nellie’s illness, Ruth took up a role in the family. She visited Nellie, read her stories and poems, fed her small treats, played with the boys, and most importantly, saw her as herself, Nellie, and not as a dying patient. </p>
<p>Her involvement with the boys influenced Eddie – Nellie’s younger son, Rose’s father – to take up the cudgels of social change. He became a human rights lawyer specialising in refugee cases, and however distressing he might be as a retired drunk, he still maintains the energy to support refugees in the community. And Rose, too, inherited a sense of social justice – enough to feel guilty that she elected to work in the private rather than the public health sector. </p>
<p>Rose justifies her choice on the basis that “suffering from cancer is essentially no different in the world of the privileged”. But then she reflects on her own risk of cancer, on how illness “overrides everything else”, how it will reduce her to sickness, pain, to being just “the mastectomy in Bed Four”. </p>
<p>Though <a href="https://theconversation.com/triggering-cancer-cells-to-become-normal-cells-how-stem-cell-therapies-can-provide-new-ways-to-stop-tumors-from-spreading-or-growing-back-191559">cancer treatment</a> is radically different now from 1945, still – as Rose notes – it reduces patients to categories: “newbies” identifiable by their “full heads of hair and terrified faces”; “seasoned members” who seem bored by or resigned to their treatment; the “sicker ones in wheelchairs”. </p>
<p>But she also knows her patients as individuals; knows their lives and fears as well as their diseases. She is willing to sit with them and listen to them; to offer, where she can, some comfort. She can ease their pain. She can ease them into death when it comes. </p>
<p>I read this novel aware that its author has herself gone into death; that she wrote this while going through treatment and facing this new, and final, stage of life. The tenderness, the professionalism, and the careful eye on what it is to be a person in relation to other people is, at least for me, immensely moving. </p>
<p>It’s a dense novel, written with close attention to detail and clear-eyed understanding of the complexities of life, of living and of dying. In this, it is an exemplar for how fiction can travel alongside other specialist languages – here, the language of medicine – to illuminate things that matter, and to normalise things we dread.</p><img src="https://counter.theconversation.com/content/197424/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jen Webb has received funding from the Australian Research Council.</span></em></p>Kath O'Connor’s debut novel, Inheritance, follows two women – an IVF hopeful and her grandmother – who carry the BRCA1 gene and contract ovarian cancer. It’s very close to being memoir.Jen Webb, Dean, Graduate Research, University of CanberraLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1814152022-04-25T12:13:44Z2022-04-25T12:13:44ZOvarian cancer is not a silent killer – recognizing its symptoms could help reduce misdiagnosis and late detection<figure><img src="https://images.theconversation.com/files/458950/original/file-20220420-23-c2b2re.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C3332%2C2209&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Ovarian cancer is more likely to be cured with early diagnosis.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/pelvic-pain-stomachache-concept-hands-of-young-royalty-free-image/1128669705">Pornpak Khunatorn/iStock via Getty Images Plus</a></span></figcaption></figure><p>Ovarian cancer is the <a href="https://www.cdc.gov/cancer/ovarian/statistics/index.htm">most deadly</a> of gynecologic tumors. Fewer than 40% of those diagnosed with ovarian cancer are cured, and approximately <a href="https://www.cancer.org/cancer/ovarian-cancer/about/key-statistics.html">12,810 people</a> in the U.S. die from the disease every year. </p>
<p>For the past 25 years, scientists have tried to identify a screening test to detect ovarian cancer in its earliest stages, when the <a href="https://www.cancer.org/cancer/ovarian-cancer/detection-diagnosis-staging/survival-rates.html">chance of cure is high</a>. Unfortunately, multiple <a href="https://prevention.cancer.gov/major-programs/prostate-lung-colorectal-and-ovarian-cancer-screening-trial">clinical</a> <a href="https://doi.org/10.1016/S0140-6736(15)01224-6">trials</a> with hundreds of thousands of participants have failed to identify an effective way to screen for ovarian cancer. In fact, the U.S. Preventive Services Task Force gave ovarian cancer screening a <a href="https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/ovarian-cancer-screening">grade of D</a> in 2018, meaning it recommends against periodic screening because it doesn’t improve survival and can prove harmful to patients.</p>
<p>Because no effective screening test currently exists, <a href="https://dx.doi.org/10.3238%2Farztebl.2011.0635">70% of people with ovarian cancer</a> are diagnosed at advanced stages, when <a href="https://www.medscape.com/answers/255771-194612/what-is-the-prognosis-of-ovarian-cancer">chances of cure</a> are poor. Around 60% to 90% of people with stage one or two cancer that stays around the ovaries and pelvis are disease-free five years after diagnosis, compared with only 10% to 40% of those with stage three or four cancer that has spread through the abdomen and beyond. </p>
<p>But even those with advanced disease have a <a href="https://doi.org/10.1038/nrclinonc.2015.224">higher chance</a> of being cured if complete surgical removal is still possible. This makes early diagnosis all the more important for overall survival.</p>
<p>Without screening tests, many physicians wrongly assume that early diagnosis for ovarian cancer isn’t possible. As a <a href="https://scholar.google.com/citations?user=pn7haLoAAAAJ&hl=en">gynecologic oncologist</a> who treats hundreds of ovarian cancer patients each year, I was frustrated by these late diagnoses, and wondered if better recognition of its symptoms could help clinicians and patients identify ovarian cancer earlier.</p>
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<iframe width="440" height="260" src="https://www.youtube.com/embed/L_GYn7a8oBE?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">Ovarian cancer is often misdiagnosed.</span></figcaption>
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<h2>Detectable symptoms</h2>
<p>Ovarian cancer has historically been called a “<a href="https://dx.doi.org/10.1017%2Fs0025727300000521">silent killer</a>,” because clinicians thought its symptoms were undetectable. Patients were often diagnosed so late that doctors thought nothing could be done.</p>
<p>But there have been many studies over the past 20 years demonstrating that ovarian cancer does have <a href="https://doi.org/10.1097/AOG.0000000000004664">early warning signs</a>. My colleagues and I conducted one of the <a href="https://doi.org/10.1002/1097-0142(20001115)89:10%3C2068::AID-CNCR6%3E3.0.CO;2-Z">earliest studies</a> in 2000. Our survey of 1,700 people with ovarian cancer found that 95% of patients reported noticeable symptoms three to 12 months before diagnosis. The most common symptoms were pain in their pelvis and abdomen, increased frequency and urge to urinate, difficulty eating or feeling full quickly, and bloating or abdominal distension. </p>
<p>Importantly, people with both advanced- and early-stage disease reported similar types of symptoms. <a href="https://doi.org/10.1016/j.ogc.2012.02.007">Subsequent studies</a> from multiple researchers further confirm that patients with even early-stage ovarian cancer experience frequent symptoms.</p>
<p>We also found that providers often misdiagnosed ovarian cancer as another condition. When we asked patients what their doctors told them was the cause of their symptoms, 15% had their symptoms attributed to irritable bowel disease, 12% to stress, 9% to gastritis, 6% to constipation, 6% to depression and 4% to some other cause. Thirty percent were given treatment for a different condition. And 13% were told there was nothing wrong.</p>
<p>One major issue has been distinguishing ovarian cancer symptoms from those of common gastrointestinal and urinary conditions. In <a href="https://doi.org/10.1002/cncr.22371">another study</a>, my team and I found that patients with ovarian cancer have symptoms with a recent onset and occur more than 50% of the month.</p>
<p>To facilitate early detection of ovarian cancer, my team and I compared the symptoms ovarian cancer patients experienced with those of patients without ovarian cancer. We <a href="https://doi.org/10.1002/cncr.22371">developed an index</a> that identified six important symptoms of ovarian cancer: bloating, increased abdominal size, feeling full quickly, difficulty eating, pelvic pain and abdominal pain. Symptoms needed to occur more than 12 times a month but to have lasted for less than a year. </p>
<p>Based on these criteria, our index was able to detect ovarian cancer in 60% to 85% of the patients in our study, a range similar to that achieved through diagnostic blood tests for ovarian cancer.</p>
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<a href="https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Person talking to doctor in exam room" src="https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=377&fit=crop&dpr=1 600w, https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=377&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=377&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=473&fit=crop&dpr=1 754w, https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=473&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/458982/original/file-20220420-24670-fds9t5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=473&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Recognizing the symptoms of ovarian cancer could lead to earlier diagnosis.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/woman-at-a-check-up-royalty-free-image/1368068504">FatCamera/E+ via Getty Images</a></span>
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<h2>Preventing ovarian cancer</h2>
<p>While early detection is important, there are also prevention strategies that can help reduce the risk of developing ovarian cancer.</p>
<p>If you have a family history of ovarian cancer, inform your doctor, who may recommend <a href="https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet">genetic testing</a> to fully determine your risk, or prophylactic surgery to prevent the development of cancer.</p>
<p>Oral contraceptives, tubal ligation (or surgery to close the fallopian tubes), pregnancy and breastfeeding all <a href="https://www.cancer.gov/types/ovarian/patient/ovarian-prevention-pdq">reduce the risk</a> of ovarian cancer. </p>
<p>Finally, <a href="https://doi.org/10.1001/jamanetworkopen.2021.47343">up to 70%</a> of ovarian cancers may arise from the fallopian tubes. Removing the fallopian tubes at the time of another surgery may be another option to help reduce the risk of ovarian cancer. This should be done only if you do not plan on becoming pregnant in the future.</p>
<p>[<em>Get fascinating science, health and technology news.</em> <a href="https://memberservices.theconversation.com/newsletters/?nl=science&source=inline-science-fascinating">Sign up for The Conversation’s weekly science newsletter</a>.]</p><img src="https://counter.theconversation.com/content/181415/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Barbara Goff receives funding from National Institutes of Health, TEAL foundation. Ovarian Cancer Research Foundation and Marsha Rivkin Foundation</span></em></p>There are currently no effective tests to screen for ovarian cancer. But that doesn’t mean there aren’t ways to recognize and prevent it.Barbara Goff, Professor of Obstetrics and Gynecology, University of WashingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1609992021-05-18T20:11:35Z2021-05-18T20:11:35Z‘Devastated and sad’ after 36 years of research — early detection of ovarian cancer doesn’t save lives<figure><img src="https://images.theconversation.com/files/401148/original/file-20210518-23-1uo0j2f.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/women-touching-lower-abdomen-629505710">Shutterstock</a></span></figcaption></figure><p>My colleagues’ and my efforts to develop a screening test for the early detection of ovarian cancer capable of saving lives arrived at a sad moment last week. The <a href="https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)00731-5/fulltext">final trial results</a> of the research I’ve focused on for 36 years, published in The Lancet, found early ovarian cancer detection doesn’t save lives. </p>
<p>The advances we have seen in science and technology over the past three decades have been nothing short of phenomenal. Each smartphone has more computational power than NASA had at its disposal during the moon landings. In medicine, researchers have sequenced the human genome, created life-saving treatment for HIV and rapidly developed vaccines for COVID-19.</p>
<p>There have been significant improvements in ovarian cancer treatment involving surgery and chemotherapy, but the sad and frustrating truth is of the <a href="https://www.ovariancancer.net.au/page/152/the-statistics#:%7E:text=Each%2520day%2520in%2520Australia%252C%2520four,with%2520breast%2520cancer%2520is%252091%2525">four women diagnosed with ovarian cancer</a> in Australia each day, three will eventually die from the disease. </p>
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<strong>
Read more:
<a href="https://theconversation.com/interactive-we-mapped-cancer-rates-across-australia-search-for-your-postcode-here-102256">INTERACTIVE: We mapped cancer rates across Australia – search for your postcode here</a>
</strong>
</em>
</p>
<hr>
<p>The diagnosis of ovarian cancer is dependent on women reporting symptoms to their doctor. However, few develop symptoms until they have advanced stage cancer, by which time the outlook is poor. Of all women’s cancers, ovarian cancer has the lowest survival rate, with just <a href="https://www.ovariancancer.net.au/page/152/the-statistics#:%7E:text=Each%2520day%2520in%2520Australia%252C%2520four,with%2520breast%2520cancer%2520is%252091%2525">46% of patients in Australia</a> surviving five years. For breast cancer, it’s <a href="https://www.cancer.org.au/cancer-information/types-of-cancer/breast-cancer">now 91%</a>.</p>
<h2>Back in the 80s</h2>
<p>I was motivated to improve the outcome for women with ovarian cancer by my experience as a junior doctor in London in 1985. I was training with a brilliant surgeon who undertook operations for many women with ovarian cancer. In spite of the exhaustive surgery and the chemotherapy that followed, we saw far too many women suffer and die from ovarian cancer. </p>
<p>That experience inspired me to initiate a program of research designed to find a screening test to detect this cancer early. Women with the earliest stage of ovarian cancer had survival rates of 70%, but less than 20% of women with ovarian cancer were diagnosed that early. </p>
<p>My hypothesis was that if we could detect more cancers at an early stage it would save lives. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/401154/original/file-20210518-19-1iawr2h.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">We saw too many women suffer and die from ovarian cancer.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/hospital-interior-corridor-bue-greece-1256860270">Shutterstock</a></span>
</figcaption>
</figure>
<p>Based on evidence from other cancers, there was reason to be hopeful and two potential tests were available – a <a href="https://pubmed.ncbi.nlm.nih.gov/6310399">blood test</a> called CA 125 and <a href="https://doi.org/10.1016/S0140-6736(82)91622-1">the use of ultrasound scanning</a> which was then widely used in obstetrics.</p>
<p>Over the next 15 years, working with colleagues in the United Kingdom and United States, I developed and refined the screening tests and had great hope for what we called “multimodal screening”. This involved a “risk of ovarian cancer algorithm” for interpreting the change in blood levels of CA 125 over time to identify women who had a rising pattern, indicating an elevated risk of ovarian cancer. Women with an elevated risk could then have a secondary test involving ultrasound scanning. </p>
<p>During those 15 years, we published <a href="https://doi.org/10.1016/S0140-6736(88)90351-0">convincing evidence</a> <a href="https://doi.org/10.1016/S0140-6736(98)10261-1">in studies</a> involving over 50,000 women that this approach to screening was safe, acceptable to women, could detect over 85% of the cancers early and would probably be cost effective <em>if</em> sufficient lives were saved.</p>
<h2>Promising early results</h2>
<p>Before advocating screening of the general population, a massive trial would be needed to determine whether the screening would actually save lives. </p>
<p>The trial needed to involve screening and follow up of approximately 200,000 women for around 20 years. This would eventually include 2,000 women with ovarian cancer – enough to determine whether or not screening saved lives.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/401161/original/file-20210518-19-1lq971.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The trial involved great numbers of participants.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/people-walking-work-street-new-york-420091906">Shutterstock</a></span>
</figcaption>
</figure>
<p>Work got underway in the United Kingdom in 2000 and optimism grew as <a href="https://doi.org/10.1016/S1470-2045(09)70026-9">initial results confirmed</a> the ability of multimodal screening to detect cancer early in over 85% of cases. </p>
<p>By 2015, the <a href="https://doi.org/10.1016/S0140-6736(15)01224-6">preliminary mortality data</a> were available and were tantalising. The curves hinted at a 20% or more reduction in deaths from ovarian cancer, but the findings did not quite reach statistical significance. So another five years of painstaking follow up was needed.</p>
<h2>Disappointing final results</h2>
<p>The <a href="https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(21)00731-5/fulltext">final results of the UK Collaborative Trial of Ovarian Cancer Screening</a> showed the multimodal screening approach could detect cancers early and increase the number of early-stage ovarian cancers by almost 50%. </p>
<p>But to our surprise and despair, that did not reduce the number of deaths from ovarian cancer. All it seemed to do was to bring forward the time of diagnosis of the cancers in these women, without improving their survival.</p>
<figure class="align-center ">
<img alt="Woman has blood taken for a blood test." src="https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/401254/original/file-20210518-15-1djldr.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Under the multimodal screening program, women were first given a blood test for levels of CA 125.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/swab-pressed-onto-injection-site-during-521751805">Shutterstock</a></span>
</figcaption>
</figure>
<p>This is deeply disappointing. Disappointing of course for those who like myself have dedicated much of their professional lives to this effort, but much more importantly for the women across the world who we had hoped would have access to an effective screening test able to save lives. </p>
<p>The hope had been to deploy ovarian cancer screening for women in the general population alongside breast and cervical cancer screening, but that will not happen – for a while at least.</p>
<h2>Why didn’t early detection save lives?</h2>
<p>To answer that, we need to further analyse samples and data from the trial. Our suspicion is that the women whose cancers were detected early by screening had more aggressive cancers than those (the 10%) whose cancers were detected early without screening, on the basis of symptoms. </p>
<p>So even with early detection, their cancers progressed relentlessly despite them receiving the best available surgery and chemotherapy. </p>
<p>If that is the case, we are likely to require screening tests which can detect ovarian cancer even earlier than our algorithm, which we estimate picks up ovarian cancer 18 to 24 months early. Saving lives may require a test capable of picking up the cancers five or more years early. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-we-need-to-pay-more-attention-to-negative-clinical-trials-59904">Why we need to pay more attention to negative clinical trials</a>
</strong>
</em>
</p>
<hr>
<p>Fortunately, there are exciting avenues of research involving advances in protein and DNA technologies which researchers in Australia and around the world are exploring. So there is hope. </p>
<p>But realistically, given the five-plus years needed to develop better screening tests and the ten to 15-plus years needed to have enough cases to conduct another large randomised trial, the solution is likely to be more than 20 years away.</p>
<h2>Still, we’ve learnt a lot</h2>
<p>This massive commitment of expertise, time, energy and funding has most definitely not been wasted. Much has been achieved along the way in this 36-year journey in developing ways to assess risk, diagnose cancer and prevent ovarian cancer which are now used in clinical practice. </p>
<p>New generations of researchers have been trained. The data and the blood bank collected is available to all researchers seeking new and better screening tests and is a unique resource. And the ability to detect ovarian cancer early may be invaluable in assessing new treatments. </p>
<p>I feel privileged to have led this effort and will always be grateful to the collaborators, researchers, health professionals, funding agencies and above all the 200,000 women who took part in the trial. </p>
<p>I feel a deep sadness that lives will not yet be saved by ovarian cancer screening, but I’m confident the next generation of researchers will build on our work and find approaches to screening and treatment of ovarian cancer which dramatically reduce the loss and suffering caused by this insidious disease.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/covid-has-left-australias-biomedical-research-sector-gasping-for-air-145022">COVID has left Australia's biomedical research sector gasping for air</a>
</strong>
</em>
</p>
<hr>
<img src="https://counter.theconversation.com/content/160999/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ian Jacobs is a President and Vice-Chancellor of UNSW Sydney and a Board member of Ovarian Cancer Australia. He is a director and shareholder of Abcodia Ltd which holds a licence from Massuchusetts General Hospital for the Risk of Ovarian Cancer Algorithm and as a Co-Inventor of the Algorithm he has a potential royalty stream. He received funding awards for UKCTOCS from the Medical Research Council, Cancer Research UK, the National Institute of Health Research and the Eve Appeal.</span></em></p>I was motivated to improve the outcome for women with ovarian cancer by my experience as a junior doctor in London in 1985. But 36 years on, the results aren’t what we’d hoped.Ian Jacobs, President and Vice-Chancellor, UNSW SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1485752020-10-27T18:32:48Z2020-10-27T18:32:48ZCervical, breast, heart, bowel: here’s what women should be getting screened regularly<figure><img src="https://images.theconversation.com/files/365697/original/file-20201027-13-6krwme.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C4740%2C3164&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Throughout the COVID-19 pandemic, many have felt anxious about going to the GP and other health facilities, believing these places have had a greater risk of transmission. A lot of us have also had to juggle work, childcare and home-based education.</p>
<p>So it’s not surprising the number of women attending for preventive health checks <a href="https://www.aihw.gov.au/reports/cancer-screening/cancer-screening-and-covid-19-in-australia/contents/how-has-covid-19-affected-australias-cancer-screening-programs">dropped alarmingly</a>. For example, 145,000 fewer breast cancer screenings were done between January and June this year than in the same period in 2018. It’s important, however, not to let the pandemic lead to avoidable poor health.</p>
<p>Here are some of the main health checks the the Royal Australian College of General Practitioners (RACGP) <a href="https://www.racgp.org.au/download/Documents/Guidelines/Redbook9/17048-Red-Book-9th-Edition.pdf">recommends for women</a>. These checks are advised for women at average risk, but women who have a strong family history of any of these conditions should ask with their GP if they should start screening earlier or seek different types of testing.</p>
<h2>Cervical cancer screening</h2>
<p>The National Cervical Screening Program recommends cervical cancer screening every five years for women aged between 25 and 74.</p>
<p>In December 2017, a <a href="http://www.cancerscreening.gov.au/internet/screening/publishing.nsf/Content/cervical-screening-1">new test</a> was introduced for cervical cancer screening in Australia, and the testing interval changed from two years to five years. The change in testing interval was recommended because the new test is able to detect changes earlier. This means fewer women are tested each month, with the decline starting from December 2019.</p>
<p>Even accounting for this, the number of women tested in April and May 2020 fell sharply. There was some recovery in June, although rates in Victoria remain low. It used to be common practice to do a pelvic examination at the same time as a cervical screening test to look for problems in the uterus and ovaries, but this is no longer recommended due to its <a href="https://www.choosingwisely.org.au/recommendations/racgp8">poor accuracy</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=313&fit=crop&dpr=1 600w, https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=313&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=313&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=393&fit=crop&dpr=1 754w, https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=393&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/365423/original/file-20201026-15-1cyhyyl.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=393&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Number of Medicare claims for routine cervical screening tests in Australia 2019-20.</span>
<span class="attribution"><span class="source">MBS Statistics Online</span></span>
</figcaption>
</figure>
<h2>Breast cancer screening</h2>
<p>Breast Screen Australia recommends an x-ray of the breasts, called a mammogram, every two years for women aged 50-74. Breast screening services were paused in April, but are now open again in all states, including Victoria.</p>
<p>Evidence for the benefits and harms of breast screening has been highly contested, so it’s important women make an informed choice. Cancer Australia states that for every 1,000 women screened for 25 years from the age of 50, around eight will avoid dying of breast cancer. On the other hand, eight women in every 1,000 screened will be treated unnecessarily (usually with surgery) for cancers that would <a href="https://www.canceraustralia.gov.au/publications-and-resources/position-statements/overdiagnosis-mammographic-screening">never otherwise have been diagnosed</a>.</p>
<p>Screening works by finding a cancer before a woman has any symptoms, but it also finds cancers that grow very slowly or even regress, and that would <a href="https://www.youtube.com/watch?v=sUn1Eyrf_Zs">never have caused symptoms</a>. More sensitive tests, such as MRI, find <a href="https://www.youtube.com/watch?v=n--VfNKEQ6g">more of these “overdiagnosed cancers”</a> than other tests.</p>
<p>Breast cancer survival has improved significantly in the past few decades, but most of this seems to be due to <a href="https://www.nejm.org/doi/full/10.1056/nejmoa1600249">improvements in treatment</a> rather than improvements in screening.</p>
<h2>Ovarian cancer</h2>
<p>Unfortunately, there is no method for early detection of ovarian cancer and the symptoms can be vague, often leading to late diagnosis.</p>
<p>The <a href="https://www.canceraustralia.gov.au/affected-cancer/cancer-types/ovarian-cancer/what-are-symptoms-ovarian-cancer">most common symptoms</a> are abdominal bloating, abdominal or pelvic pain, appetite loss, feeling full quickly, indigestion, urinary frequency or urgency, constipation, unexplained weight loss or gain, and unexplained fatigue.</p>
<p>Women who have any of these symptoms for more than a few weeks should see their GP.</p>
<h2>Sexually transmitted disease</h2>
<p>About 1 in 20 women in their 20s will have a chlamydia infection and 1 in 200 will have gonorrhoea. These increase the risk of pelvic inflammatory disease and infertility. HIV, Hepatitis B and syphilis are less common, but important to detect early.</p>
<p>There is no formal screening program but the RACGP encourages sexually active women younger than 30 to have regular testing, especially if there has been a change in sexual partner.</p>
<h2>Cardiovascular disease and diabetes</h2>
<p>The <a href="https://www.aihw.gov.au/reports/life-expectancy-death/deaths-in-australia/contents/leading-causes-of-death">leading causes</a> of death in women in Australia are dementia, heart attacks, strokes, and lung cancer. The risks of these can be reduced with good preventive health.</p>
<figure class="align-center ">
<img alt="A health worker taking an elderly patient's blood pressure" src="https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/365701/original/file-20201027-13-dcj659.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Women shouldn’t forget to get their blood pressure and cholesterol regularly checked.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>The RACGP recommends women have their blood pressure checked every two years from age 18, cholesterol every five years from age 45, and checks for diabetes and kidney disease when at risk (for example if you have a family history). GPs recommend a general health check for those aged 45 to 49, or a heart health check for those over 45, or Aboriginal or Torres Strait Islander people over 30.</p>
<p>Treating high blood pressure and cholesterol and reducing smoking rates has prompted a massive decline in Australian heart disease deaths since their peak in the 1960s. However, women are less likely to have all risk factors for heart disease checked, and <a href="https://heart.bmj.com/content/103/7/492.abstract?casa_token=5JRZyGi0Cm4AAAAA:nAr-ZoQNtjGSJ-80ksWxqc90h24ubcmDzyV3wfYQoRhE9p8tozsDAXjF_xbXm2GKkUTj_J1jS24">younger women are less likely</a> to be put on blood pressure or cholesterol-lowering medication than men with the same risk level.</p>
<h2>Bowel cancer</h2>
<p>Bowel cancer screening is recommended by the National Bowel Cancer Screening Program for all Australians every two years between ages 50 to 74. This is done by a stool sample test, using a kit mailed by the National Bowel Cancer Screening Program and returned by post. This screening <a href="https://www.cochranelibrary.com/cdsr/doi/10.1002/14651858.CD001216.pub2/full?highlightAbstract=colourect%7Cscreening%7Ccolorectal%7Ccolorect%7Cscreen%7Ccancer%7Ccolourectal">reduces deaths</a> from bowel cancer by 16%.</p>
<p>GPs have worked hard to ensure their patients’ safety during the COVID-19 pandemic. But it’s also important the recommended preventive health checks are not delayed unnecessarily.</p>
<hr>
<p>This article previously stated that eight women in every 1,000 <em>diagnosed by screening</em> will be treated unnecessarily for breast cancers. In fact, eight women in every 1,000 <em>screened</em> will be treated unnecessarily. This has been corrected.</p>
<p>A previous version of this article said the National Bowel Cancer Screening Program was for people aged 50-75, this has now been amended.</p><img src="https://counter.theconversation.com/content/148575/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jenny Doust is a member of the RACGP and receives grant funding from the NHMRC.</span></em></p><p class="fine-print"><em><span>Gita Mishra receives funding from NHMRC, Commonwealth department of Health </span></em></p>Regular testing can mean potentially fatal diseases can be picked up and treated early.Jenny Doust, Clinical Professorial Research Fellow, The University of QueenslandGita Mishra, Professor of Life Course Epidemiology, Faculty of Medicine, The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1222492019-08-23T12:20:46Z2019-08-23T12:20:46ZNew blood screening may detect ovarian cancer two years before other methods<figure><img src="https://images.theconversation.com/files/289071/original/file-20190822-170956-zstdsq.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/real-female-hairless-fight-against-cancer-243554755?src=QqPUzHwuo1ierIyyU9MAMQ-1-2">fototip/Shutterstock</a></span></figcaption></figure><p>Ovarian cancer has a high mortality risk because it is so often diagnosed at <a href="https://onlinelibrary.wiley.com/doi/full/10.3322/caac.21456">a very late stage</a>. In a <a href="https://www.nature.com/articles/s41416-019-0544-0">new study</a>, our team has shown that detection rates can be significantly improved by screening for a specific set of proteins in the bloodstream. This could mean detection of ovarian cancer up to two years before current screenings allow.</p>
<p>Cancer tests walk a harsh line between missing cancer and misdiagnosing healthy people. If you make your test too strict, you will fail to detect traces of real cancers that are present. If it is too lenient you will falsely detect cancer where it doesn’t exist.</p>
<p>While it might seem obvious we should tip the scales in favour of catching every cancer, the burden this places on the health system <a href="https://theconversation.com/medical-researchers-raise-alarm-on-overdiagnosis-12471">can be unsustainable</a>. Not to mention the stress and potentially dangerous treatment it can mean for healthy people.</p>
<p>Our group is working to improve this balancing act in the diagnosis of ovarian cancer, the statistics for which speak for themselves. In 2016, 4,227 women <a href="https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/ovarian-cancer">died from ovarian cancer</a>. The overall five year survival for stage III & IV ovarian cancer (late stage) is only 22%, making this the <a href="https://www.ncbi.nlm.nih.gov/pubmed/22237781">most lethal</a> female reproductive cancer. When ovarian cancer is detected early, the patient’s prospects are much better, with approximately 90% of women diagnosed at stage I (early stage) <a href="https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/ovarian-cancer">surviving five years or more</a>.</p>
<h1>Red herrings in current cancer detection</h1>
<p>Unfortunately, ovarian cancers are often not caught early enough. Almost six in ten ovarian cancer cases are <a href="https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/ovarian-cancer">diagnosed at a late stage</a> in England and Northern Ireland today, resulting in a <a href="https://www.ncbi.nlm.nih.gov/pubmed/27903971">high death rate</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=338&fit=crop&dpr=1 600w, https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=338&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=338&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=424&fit=crop&dpr=1 754w, https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=424&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/289072/original/file-20190822-170946-1kcsan7.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=424&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<p>Late detection of ovarian cancers is mostly due to the “non-specific” nature of its symptoms. Currently most blood tests measure the levels of a <a href="https://en.wikipedia.org/wiki/CA-125">protein CA125</a>. But using this as a marker for cancer in the blood <a href="https://theconversation.com/why-single-blood-markers-for-disease-will-become-a-thing-of-the-past-41636">is not reliable</a> as it can also be elevated in pregnancy, during a woman’s period, and other non fatal conditions (such as <a href="https://www.nhs.uk/conditions/endometriosis/">endometriosis</a>). Additionally, not all cancer patients show this marker. Studies have shown it is <a href="https://www.ncbi.nlm.nih.gov/pubmed/2651469">only elevated in around 50%</a> of early stage cancers.</p>
<p>For this reason, our research team has been working with an international group of experts from the universities of New South Wales, Milan and Manchester, to develop a combination of proteins we can use to identify cancer earlier than is currently possible.</p>
<p><a href="https://www.ncbi.nlm.nih.gov/pubmed/28664912">Our previous work</a> lead to the identification of four <a href="https://www.ncbi.nlm.nih.gov/pubmed/26815306">possible markers</a> we could look for in the blood to maximise the power of our tests (protein CA125, phosphatidylcholine-sterol acyltransferase, vitamin K-dependent protein Z, and C-reactive protein).</p>
<h1>A time capsule of blood samples</h1>
<p>Armed with our panel of blood markers, the next stage was to test for effectiveness in a large group of women. Part of the success of our study came from the <a href="https://www.ncbi.nlm.nih.gov/pubmed/31388184">incredible dataset</a> we had access to thanks to the United Kingdom Collaborative Trial for Ovarian Cancer Screening (<a href="https://gtr.ukri.org/projects?ref=G0801228">UKCTOCS</a>). From the 200,000 women registered in this database, we were able to select 80 women (49 ovarian cancer cases, and 31 healthy people). Blood samples from these women had been taken every year for seven years before the ovarian cancer patients were diagnosed with the disease.</p>
<p>This provided us with a very powerful tool. With this time capsule of samples we were able to observe how levels of our four target proteins changed over time between patients and healthy individuals. In essence, it allowed us to see directly if the proteins differed between patients and the healthy people over time. Because the samples were taken over such a long period, we could track back over the seven years to see when the first time the proteins would allow us to detect the disease.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=262&fit=crop&dpr=1 600w, https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=262&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=262&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=329&fit=crop&dpr=1 754w, https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=329&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/289074/original/file-20190822-170922-ksv1jh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=329&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">shutterstock time.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-vector/pixel-flat-people-run-over-clocks-1427233007?src=rZUwIjIjoUMvNj22KHqosg-1-0">New Design Illustrations/ Shutterstock</a></span>
</figcaption>
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<p>We then developed a computerised tool that assessed changes in protein levels to determine the “predicted risk” of ovarian cancer for each person (cancer patients and healthy people). The tool was asked to grade the risk of ovarian cancer for each person at each point along the seven year timeline (rating them severe, elevated, intermediate, or normal).</p>
<p>This initial work demonstrated that the screening tool has the potential to diagnose ovarian cancer one to two years earlier than current diagnosis. Our results also suggest it could identify 60% of the most aggressive ovarian cancers around one year before currently possible.</p>
<h1>The future - digital biological maps</h1>
<p>The results of this study are encouraging but this research is still at an early stage. We are now setting up a study to verify our results in a large group, which will provide us with around 1,000 blood samples. By using a technique called <a href="https://www.atascientific.com.au/spectrometry/">SWATH mass spectrometry</a>, we can create a digital map of all the proteins in a person’s system at that time.</p>
<p>This means we do not have to rely on physical blood samples, which can get used up or expire. If future research suggests a new protein is important, we can come back in the future to look at these samples again and can share them easily with other research groups. We hope this study will provide the data we need to advocate for an ovarian cancer screening programme.</p>
<p>By optimising these methods we also hope we can move towards a stage where ovarian cancer is diagnosed in stages I and II in most women, when treatment can really make a difference.</p><img src="https://counter.theconversation.com/content/122249/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>This research was funded by the CRUK and the eve appeal . </span></em></p><p class="fine-print"><em><span>Ciaren Graham receives funding unrelated to the current study</span></em></p>We need to change diagnosis of ovarian cancer from late stage to early - scientists make stepsBobby Graham, Reader in the School of Biological Sciences, Queen's University BelfastCiaren Graham, Senior Lecturer in the School of Biological Sciences, Queen's University BelfastLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1052302018-11-29T10:00:46Z2018-11-29T10:00:46ZHaving children is linked to increased risk of heart disease, new study suggests – but don’t let that put you off<figure><img src="https://images.theconversation.com/files/243463/original/file-20181101-83657-7i315e.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Rugrats can seriously mess you up.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/286988390?src=XRGW3CmmHynXTWtP-oeT5g-1-0&size=medium_jpg">Kichigin/Shutterstock</a></span></figcaption></figure><p>Children are stressful. The more children you have, the more stress you have to manage. But that’s not all, having lots of children might raise more than just stress levels. Our <a href="https://www.liebertpub.com/doi/10.1089/jwh.2018.7161">latest research</a> suggests having kids might also be linked to an increased risk of getting cardiovascular disease. </p>
<p>This research has come from the Atherosclerosis Risk in Communities (ARIC) study, which followed more than 8,000 women from across the US for 30 years. Researchers found that the more children a woman has, the more likely she is to develop heart disease, strokes and heart failure in later life. Women who had five or more children were 26% more likely to have a heart attack, stroke or heart failure than women with one or two children. </p>
<p>There could be several reasons why having children could be linked to cardiovascular disease. A woman’s body makes huge, amazing adjustments during pregnancy. It’s not just the size of her belly that increases, a woman’s heart grows by almost 12% by the end of the nine months, which helps deal with the 50% increase in the volume of blood that has to be sent around her body. </p>
<p>Those big changes reflect the huge demands placed on a woman’s body during pregnancy. Although things return to normal after birth, there may be long-lasting effects.</p>
<p>But it’s not just the pregnancy that might have a negative effect. Anyone with children will tell you that they have next to no “me time”, between balancing childcare, home life and work. As for a social life? What’s that? </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=368&fit=crop&dpr=1 600w, https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=368&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=368&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=463&fit=crop&dpr=1 754w, https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=463&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/247318/original/file-20181126-140537-1wguj5r.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=463&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Not much time for this.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/1234723894?src=TpgsNS3wNJ32SroG_mWekw-1-64&size=medium_jpg">KieferPix/Shutterstock</a></span>
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<p>And the less time a woman has to take care of herself, to get enough sleep and to relax, the more likely she will be to reach for a quick fix. Grabbing the biscuits to give a sugar hit, having the extra glass of alcohol to relax; it all adds up to a less healthy, but totally understandable, lifestyle. </p>
<p>This doesn’t mean that dads get away scot-free; child-related stress is an equal opportunities enemy. A <a href="https://heart.bmj.com/content/104/13/1069.long">study</a> of more than 200,000 British men found a similar result. Men with four or more children were more likely to have heart disease than men with fewer children. </p>
<p>Does this suggest that not having children is best for the heart? Well, it depends. In the ARIC study, women who had never been pregnant were at lower risk of having heart disease, a stroke or heart failure than women with many children. However, women who had no children but had experienced pregnancy loss were 64% more likely to develop heart disease than women with one or two children. </p>
<p>Pregnancy loss, of course, is a hugely stressful event that can have psychological effects years after the pregnancy. This stress, along with some health conditions that might make pregnancy more challenging, may explain why these women were more likely to develop heart disease.</p>
<h2>And now for the good news</h2>
<p>All this research might be enough to put people off having kids forever, but there is good news. Children aren’t completely bad for your health. They might not be great for your heart and head, but having children appears to be protective against some cancers. The more children a woman has the less likely she is to get <a href="https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(94)90749-8/fulltext">ovarian cancer</a> and some kinds of <a href="https://www.sciencedirect.com/science/article/pii/S0140673602094540?via%3Dihub">breast cancer</a>, regardless of whether she breastfeeds. </p>
<p>So don’t let this new research put you off having kids. The demands of pregnancy and child-rearing may be bad for the heart, but it seems the break from the regular cycle of hormones during pregnancy may be good for the reproductive system. Plus, having kids is a great excuse to indulge in your own favourite childhood activities and wrestle with some tough questions, like: “What is time?” And if you have a good answer for that, let me know and I’ll pass it on to my five-year-old.</p><img src="https://counter.theconversation.com/content/105230/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Clare Oliver-Williams has received funding from Medical Research Council, the British Heart Foundation, and holds a fellowship at Homerton College, University of Cambridge, </span></em></p>Having children is linked to a greater risk of heart attacks and stroke, but kids aren’t completely bad for your health.Clare Oliver-Williams, Junior Research Fellow, University of CambridgeLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1025322018-09-17T11:10:48Z2018-09-17T11:10:48ZWhy we’re looking for cancer clues in urine<figure><img src="https://images.theconversation.com/files/236450/original/file-20180914-177947-4tbbm3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/doctor-examining-urine-laboratory-closeup-543466330?src=JrAs2rE7r_wsxrIOC0I6EQ-1-33">Africa Studio/Shutterstock</a></span></figcaption></figure><p>The human immune system is actually quite good at <a href="https://www.cancerresearchuk.org/about-cancer/what-is-cancer/body-systems-and-cancer/the-immune-system-and-cancer">killing cancer cells</a>. In fact, we believe it does so quite frequently. People who <a href="https://www.cancer.net/cancer-types/hivaids-related-cancer/statistics">have AIDS</a> or <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1600-6143.2007.01908.x">have had an organ transplant</a> have suppressed immune systems and go on to develop cancer more often than healthy individuals. And as people age, their immune systems don’t work as well and they <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222953/">develop cancer more often</a>.</p>
<p>But sometimes a tumour grows faster than the immune system can cope with, or can hide from the immune system’s surveillance. Many researchers are now trying to <a href="https://www.cancer.net/navigating-cancer-care/videos/treatments-tests-and-procedures/immunotherapy-introduction">boost the immune system</a> to create new and more effective treatments than conventional techniques such as chemotherapy.</p>
<p>For the last 19 years, I have been looking for proteins in the body that could help stimulate the immune system to kill cancer. And my colleagues and I have now discovered that one of these proteins could also be used to diagnose ovarian cancer much earlier than was thought possible. If it could be used in a simple urine test, it could pave the way for survival rates to increase from around 20% to as much as 90% for patients who have this protein in their wee.</p>
<p>These proteins are known as antigens, meaning they are recognised by the immune system. My interest in these proteins has earned me the nickname “the antigen miner” from grant reviewers. I have looked for antigens in leukaemias, lymphomas, colon cancer and, most recently, ovarian cancer.</p>
<p>The <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2141.2007.06892.x">biggest discovery</a> I have worked on was the realisation that a cancer-specific antigen can also <a href="http://www.bloodjournal.org/content/113/5/1203.short?sso-checked=true">provide insights</a> into how cancer starts and develops. Some <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/bjh.12352">of these proteins</a> can <a href="http://www.bloodjournal.org/content/113/5/1203.short?sso-checked=true">even indicate</a> how long a patient is likely to survive.</p>
<p>In these cases, we call the proteins “biomarkers”. They can also indicate the best treatments for someone’s cancer by telling clinicians which type of cancer someone has or by indicating what is the best treatment. This could improve the chances of patient survival and prevent time and money being wasted on treatments that are unlikely to work and only offer harsh side effects. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=479&fit=crop&dpr=1 600w, https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=479&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=479&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=602&fit=crop&dpr=1 754w, https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=602&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/236451/original/file-20180914-177950-1vblh5u.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=602&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Cancer produces detectable proteins.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/cancer-cells-3d-illustration-1009146757?src=oNDiBaQqiwjOhQR6iYqu0Q-1-50">Giovanni Cancemi/Shutterstock</a></span>
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<p>My favourite type of biomarker is one that could help us diagnose cancer sooner, and early diagnosis can make a huge difference to survival rates. Most ovarian cancer is diagnosed when it has reached stage III, when five-year survival rates are <a href="https://www.cancerresearchuk.org/about-cancer/ovarian-cancer/survival">less than 20%</a>.</p>
<p>But if we could diagnose patients earlier, in stages I or II, using a non-invasive urine test, that could massively increase patient survival, because we’d be treating patients while the tumour was small and more responsive to the treatment. In fact, the survival rate for patients with stage I of the disease is around 90%.</p>
<p>We realised that cancer-specific antigens could also be biomarkers because we looked at some of the antigens we had found and, with help from my colleague Professor Ken Mills, noted how some were associated with patient age, sex, disease subtype and survival. This has led us to identify one specific biomarker as a sign of ovarian cancer.</p>
<h2>Making a diagnosis</h2>
<p>We’re now looking to see if we can find this biomarker in urine. It’s a small protein and may well be excreted in this way. If it is, then we could adapt a pregnancy test to detect the biomarker instead of pregnancy hormones. Then it could be used to provide a simple screening test for early stage ovarian cancer.</p>
<p>Biomarkers are already used to detect other cancers such as prostate cancer via blood tests. And high levels of the biomarker CA125 in the blood can be an indicator of <a href="https://www.nhs.uk/conditions/ovarian-cancer/diagnosis/">ovarian cancer</a>. But these tests don’t give us enough information to make a diagnosis, and high levels of the biomarker don’t necessarily mean someone has ovarian cancer.</p>
<p>In many cases, it is best to look for several different biomarkers to get the information we need. It may be that urine tests of the future will look for biomarkers of both early and later stages of ovarian cancer, maximising the chance of detecting ovarian cancer before the patient develops symptoms.</p><img src="https://counter.theconversation.com/content/102532/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Barbara Guinn is an Ambassador for Cancer Research UK.</span></em></p>A urine test for ovarian cancer could increase survival rates from 20% to 90%.Barbara Guinn, Head of Biomedical Sciences, University of HullLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1030872018-09-12T17:03:49Z2018-09-12T17:03:49ZGene-editing technique CRISPR identifies dangerous breast cancer mutations<figure><img src="https://images.theconversation.com/files/235935/original/file-20180912-181248-1b284hk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Breast cancer type 1 (BRCA1) is a human tumor suppressor gene, found in all humans. Its protein, also called by the synonym BRCA1, is responsible for repairing DNA. </span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/brca1-3d-structure-human-tumor-suppressor-564987043?src=9vuGmVWb0R09Kyz8mhe8EQ-1-13">ibreakstock/Shutterstock.com</a></span></figcaption></figure><p>More than 1 million women have had genetic testing of BRCA1 and BRCA2, genes in which mutations can dramatically increase the risk for early onset breast and ovarian cancer. But for many women the test results have been ambiguous. That’s because it’s not clear where certain genetic variations are harmless or cause cancer. </p>
<p>BRCA1 was amongst the first cancer predisposition genes discovered, and it has been studied for over 20 years. The gene produces a protein that repairs DNA damage, which might otherwise lead to the formation of tumors. Since its discovery, researchers and clinicians have identified many genetic variations in BRCA1, but for most of these, we are unable to tell whether they impair function of the gene – raising the risk of cancer – or whether they are perfectly harmless. </p>
<p><a href="http://krishna.gs.washington.edu/index.html">Our research team</a> works in the emerging field of genomic medicine, which uses an individual’s genetic information to prescribe care. We recognized that such “variants of uncertain significance” limited the utility of genetic testing and the prospects for genomic medicine. We know that problem is likely to get worse, as the number of uncertain variants in BRCA1 and other “medically actionable” genes is expected to grow exponentially as genetic testing is expanded to entire populations.</p>
<p><a href="https://www.nature.com/articles/s41586-018-0461-z">In a study</a>, we set out to apply CRISPR genome editing to solve the challenge posed by these variants of uncertain significance. CRISPR has tremendous potential because the technology allows researchers like us to tinker with human genes. CRISPR allows us to make very specific changes, “edits” to our DNA – thus the phrase, “genome editing.” </p>
<p>Although there are many studies that are attempting to use CRISPR to treat disease, it can also be used to introduce specific mutations into human cells that grow in a dish, for the purposes of studying what effects these mutations have on the cell – for instance, whether or not they cause a gene to malfunction.</p>
<p><a href="https://www.nature.com/articles/s41586-018-0461-z">In our study</a>, we used CRISPR genome editing to deliberately engineer some 4,000 different variants of the BRCA1 gene in human cells, nearly all possible variants in the most important regions of this gene. Importantly, the survival of the human cells that we used is dependent on intact function of the BRCA1 gene. As a consequence, the cells containing mutations that disrupted the function of the BRCA1 gene were unable to survive. On the other hand, the cell containing mutations that had no effect on the function of the BRCA1 gene were just fine. Using DNA sequencing, we tracked which mutations were associated with cell death versus cell survival. </p>
<p>When we compared the mutations that caused cell death to variants that are known to increase cancer risk, we noticed that they were the same. This gave us the confidence to say that the behavior of these variants in the cells in the dish was predictive of cancer risk in humans. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=377&fit=crop&dpr=1 600w, https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=377&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=377&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=474&fit=crop&dpr=1 754w, https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=474&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/236035/original/file-20180912-133895-1rju0xs.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=474&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The research team first grew human cells in culture. We then used the gene-editing tool CRISPR to create variations in particular regions of the BRCA1 gene. We grew these edited cells for 11 days and then determined which variants had no effect; which ones damaged the BRCA1 protein, making it nonfunctional and resulting in the cells dying; and which ones were intermediate – only moderately impacting cell survival. When we compared these results with clinical data, our laboratory-based measurements matched the effects of the mutations in the patients.</span>
<span class="attribution"><span class="source">Findlay, et al., Nature.</span>, <a class="license" href="http://creativecommons.org/licenses/by-nd/4.0/">CC BY-ND</a></span>
</figcaption>
</figure>
<p>Although scientists have used laboratory assays to test variants in BRCA1 for many years, our work is different for three reasons. </p>
<p>First, we tested many more variants than have ever been tested, including thousands that have never been observed before but almost certainly exist in at least hundreds of living humans. </p>
<p>Second, historically BRCA1 variants have been tested in genes taken “out of context” – specifically, studying only the DNA sequences that encode the BRCA1 protein, rather than the surrounding sequences that regulate how it is expressed. CRISPR allows us, for the first time, to create and test the mutations in the human genome itself. </p>
<p>Finally, for the hundreds of BRCA1 variants seen in patients where we do have a good sense of whether or not they increase risk of breast and ovarian cancer, our predictions based on our CRISPR studies are nearly perfectly accurate. That is, the variants compatible with cell survival in our assay are benign in patients, while the variants that impair cell survival in our assay cause cancer risk. This gives us confidence in our predictions for other variants that have never before been observed but inevitably will be, particularly as more and more women are screened for mutations in this gene.</p>
<p>Because of this strong agreement with “gold standard” data derived from human studies, we predict our results can be used to provide better answers to women with challenging-to-interpret variants in BRCA1. This includes many women that have an elevated risk of cancer, but would previously have been missed by genetic testing. To these women, this knowledge of what their mutations mean may critically inform the medical care that they receive.</p><img src="https://counter.theconversation.com/content/103087/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jay Shendure receives funding from Brotman Baty Institute for Precision Medicine, National Institutes of Health, Allen Frontiers Foundation, Howard Hughes Medical Group. The authors are co-inventors on a patent application related to the saturation genome editing method, and the scores described here require a license from the University of Washington for for-profit or commercial use. </span></em></p><p class="fine-print"><em><span>Lea Starita is employed by the Brotman Baty Institute for Precision Medicine. </span></em></p><p class="fine-print"><em><span>Greg Findlay does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Mutations in BRCA genes are linked to the early onset of breast and ovarian cancers. But the effect of most mutations is unclear. Now new research can distinguish harmless from dangerous mutations.Jay Shendure, Professor of Genome Sciences, University of WashingtonGreg Findlay, M.D.-Ph.D. Student in Genome Sciences, University of WashingtonLea Starita, Research Assistant Professor of Genome Sciences, University of WashingtonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/902212018-01-18T19:17:24Z2018-01-18T19:17:24ZA new blood test can detect eight different cancers in their early stages<figure><img src="https://images.theconversation.com/files/202371/original/file-20180117-53310-9zjg6j.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Liquid biopsy is less invasive than standard biopsy, where a needle is put into a solid tumour to confirm a cancer diagnosis.</span> <span class="attribution"><span class="source">Shutterstock</span></span></figcaption></figure><p>Researchers have <a href="http://science.sciencemag.org/content/early/2018/01/17/science.aar3247">developed a blood test</a> that can detect the presence of eight common cancers. Called CancerSEEK, the blood test detects tiny amounts of DNA and proteins released into the blood stream from cancer cells. This can then indicate the presence of ovarian, liver, stomach, pancreatic, oesophageal, bowel, lung or breast cancers.</p>
<p>Known as a liquid biopsy, the test is distinctly different to a standard biopsy, where a needle is put into a solid tumour to confirm a cancer diagnosis. CancerSEEK, is also far less invasive. It can be performed without even knowing a cancer is present, and therefore allow for early diagnosis and more chance of a cure. </p>
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Read more:
<a href="https://theconversation.com/interactive-body-map-what-really-gives-you-cancer-52427">Interactive body map: what really gives you cancer?</a>
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<p>The test has been shown to reliably detect early stage and curable cancers. It has also been found to rarely be positive in people who don’t have cancer. This prevents significant anxiety and further invasive tests for those who don’t need them. </p>
<p>Several cancers can be screened for at once, and the test can be performed at the same time as routine blood tests, such as a cholesterol check. But the test is still some years away from being used in the clinic.</p>
<h2>How the test works</h2>
<p>Often long before causing any symptoms, even very small tumours will begin to release minute amounts of mutated DNA and abnormal proteins into blood. While DNA and proteins are also released from normal cells, the DNA and proteins from cancer cells are unique, containing multiple changes not present in normal cells. </p>
<p>The newly developed blood-based cancer DNA test is exquisitely sensitive, accurately detecting one mutated fragment of DNA among 10,000 normal DNA fragments, literally “finding the needle in the haystack”.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/202381/original/file-20180118-114739-vxgc1e.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Tumours release mutated DNA and abnormal proteins into blood.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>We used CancerSEEK in just over 1,000 people with different types of early stage cancers. It was shown to accurately detect the cancer, including in 70% or more of pancreas, ovary, liver, stomach and esophageal cancers. For each of these tumour types there are currently no screening tests available – blood based or otherwise. </p>
<p>Along with cancer detection, the blood test accurately predicted what type of cancer it was in 83% of cases. </p>
<p>Published in the journal <a href="http://science.sciencemag.org/content/early/2018/01/17/science.aar3247">Science</a>, the research was led by a team from John Hopkins University, with collaboration from Australian scientists at the Walter and Eliza Hall Institute. </p>
<h2>Why it’s important</h2>
<p>Steady progress continues to be made in the treatment of advanced cancers, including major gains in life expectancy. But this can come at significant physical and financial cost. Early diagnosis remains the key to avoiding the potentially devastating impact of many cancer treatments and to reducing cancer deaths. </p>
<p>However, where there are proven screening tests that lead to earlier diagnosis and better outcomes, such as colonoscopy screening for bowel cancer, these are typically unpleasant. They also have associated risks, only screen for one cancer at a time and population uptake is often poor. And for many major tumour types there are currently no effective screening tests.</p>
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<strong>
Read more:
<a href="https://theconversation.com/can-we-use-a-simple-blood-test-to-detect-cancer-63183">Can we use a simple blood test to detect cancer?</a>
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</em>
</p>
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<p>There are characteristic patterns of mutations and altered proteins that differ among cancer types. So CancerSEEK can not only detect that there is a cancer somewhere in the body but can also suggest where to start looking. </p>
<p>For example, if the pattern suggests a bowel cancer, then a colonoscopy is a logical next step. When blood samples were taken from over 800 apparently healthy controls, less than 1% scored a positive test. This means the test is rarely positive for people who don’t have cancer, thereby reducing the problem of overdiagnosis.</p>
<p>Overall, these results appear to be in stark contrast to previously developed blood-based tests for cancer screening. Currently the only widely used one of is the prostate specific antigen (PSA) test for prostate cancer. This has multiple limitations and some would argue the jury is still out on whether PSA based testing does more good than harm. </p>
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<em>
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Read more:
<a href="https://theconversation.com/four-reasons-i-wont-have-a-prostate-cancer-blood-test-35085">Four reasons I won't have a prostate cancer blood test</a>
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</em>
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<h2>What next?</h2>
<p>Large trials are now underway in the US, with CancerSEEK testing being offered to thousands of healthy people. Cancer incidence and outcomes in these people will be compared to a control group who do not have testing. Study results will be available in the next three to five years.</p><img src="https://counter.theconversation.com/content/90221/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Peter Gibbs received funding from NHMRC that supported some of the research described. </span></em></p>There are currently few effective and non-invasive methods to screen for early stages of cancer. But scientists have now developed a new blood test that promises to detect eight different cancers.Peter Gibbs, Professor and Laboratory Head, Walter and Eliza Hall InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/764722017-05-04T14:34:47Z2017-05-04T14:34:47ZCould taking vitamins in huge doses produce a health miracle after all?<figure><img src="https://images.theconversation.com/files/166628/original/file-20170425-27254-154fvs3.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Back in business?</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/human-raised-hands-mercy-right-trust-324636710?src=O9QKs31qre_88fzIbXgY1Q-1-8">CHOATphotographer</a></span></figcaption></figure><p>For decades, some people have embraced the idea that there might be major health benefits from taking vitamins in quantities well beyond the <a href="http://www.nhs.uk/Conditions/vitamins-minerals/Pages/vitamins-minerals.aspx">recommended</a> daily requirement. The concept was very popular for a while <a href="http://content.time.com/time/covers/0,16641,19920406,00.html">in the media</a>, but research findings to the contrary gradually made it virtually untouchable for scientists. </p>
<p>Yet it is now making a sort of comeback, thanks partly to <a href="http://www.cell.com/cancer-cell/fulltext/S1535-6108(17)30062-4">new findings</a> demonstrating that high doses of vitamin C can treat cancer. As we shall see, however, there are some important caveats here – as well as obstacles to unlocking different potential health benefits from other vitamin treatments. This is a cautionary tale of the dangers of black and white thinking, and how things are rarely as simple as they can be made to appear. </p>
<p>It is about a hundred years since vitamins first came to prominence. <a href="http://www.rsc.org/Education/Teachers/Resources/Contemporary/student/pop_casimir.html">Described</a> in the early days as “vital-amines”, important for “vitality” (life), the public’s knowledge was originally based on solid science. But <a href="http://www.alternet.org/personal-health/how-vitamin-industry-tricks-people-shelling-out-millions-bunk-products">from the 1940s</a>, the information <a href="https://www.quackwatch.org/01QuackeryRelatedTopics/spotquack.html">became conflicted</a> as food manufacturers and later the dietary supplements industry took over much of the education on nutrition. </p>
<p>One example of this advice that has endured to the present day is the idea that we need to bolster our diets with extra vitamins and minerals. This has been phenomenally profitable for everyone in this business, from producers of breakfast cereals to vitamin pills. The dietary supplements sector <a href="https://www.mordorintelligence.com/industry-reports/global-nutraceuticals-market-industry">was worth</a> US$205 billion (£160 billion) last year and <a href="https://globenewswire.com/news-release/2016/07/18/856668/0/en/Dietary-Supplements-Market-Size-Is-Projected-To-Reach-278-02-Billion-By-2024-Demand-In-Food-Beverage-Sector-Grand-View-Research-Inc.html">is predicted</a> to rise to nearly US$280 billion by 2024. </p>
<h2>The rollercoaster remedy</h2>
<p>The idea of miraculous healing properties from taking vitamins in much larger quantities has long been part of this line of thinking – largely thanks to a leading American scientist named Linus Pauling. </p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=849&fit=crop&dpr=1 600w, https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=849&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=849&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1066&fit=crop&dpr=1 754w, https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1066&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/167362/original/file-20170501-17316-112xzlt.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1066&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">Linus Pauling in 1962.</span>
<span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:Linus_Pauling_1962.jpg#/media/File:Linus_Pauling_1962.jpg">Wikimedia</a></span>
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</figure>
<p>I have written <a href="https://theconversation.com/taking-high-doses-of-vitamins-can-do-more-harm-than-good-15388">previously</a> in The Conversation about how Pauling, a double Nobel prize winner in chemistry and peace, became singularly committed in the 1960s and 1970s <a href="https://www.quackwatch.com/01QuackeryRelatedTopics/pauling.html">to the idea</a> that megadoses of vitamin C could treat diseases from the common cold to cancer. Pauling pushed these claims through a combination of exaggeration and selecting only studies showing positive effects – with a helping hand from the manufacturers. The story is described very well <a href="https://www.theatlantic.com/health/archive/2013/07/the-vitamin-myth-why-we-think-we-need-supplements/277947/">here</a>. </p>
<p>Other scientists <a href="http://www.nejm.org/doi/full/10.1056/NEJM197909273011303">began debunking</a> these claims as far back as the late 1970s, <a href="https://www.theatlantic.com/health/archive/2013/07/the-vitamin-myth-why-we-think-we-need-supplements/277947/">demonstrating</a> not only that Pauling was wrong but also that taking oral vitamin or mineral supplements can often do more harm than good – including in the treatment of <a href="https://www.ncbi.nlm.nih.gov/pubmed/24266867">certain cancers</a>. It soon reached the point that any idea of benefits from vitamin megadoses was considered dubious within the research community. </p>
<p>Some of this was <a href="https://theconversation.com/why-eat-your-vitamins-when-you-can-now-shoot-them-up-16298">absolutely right</a>, yet perhaps the backlash went too far. It overlooked <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3273429/pdf/1475-2891-11-7.pdf">some careful science</a> that had hinted, in selected cases, that megadoses of vitamins may treat certain diseases after all.</p>
<p>This is borne out by the new study I mentioned earlier, which <a href="http://www.cell.com/cancer-cell/fulltext/S1535-6108(17)30062-4">has shown that</a> taking high doses of vitamin C may help treat lung cancer and <a href="https://www.thebraintumourcharity.org/understanding-brain-tumours/types-of-brain-tumour-adult/glioblastoma/">certain brain tumours</a>. This follows on from <a href="http://stm.sciencemag.org/content/6/222/222ra18.full">previous work</a> proposing to test the use of vitamin C in the treatment of ovarian cancer. </p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/166629/original/file-20170425-12629-1jwuts1.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
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<span class="caption">C for cure?</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/stethoscope-red-love-medical-conceptual-text-555960676?src=BkejedQWbZBT1LzIl8KxJQ-1-82">Mawardi Bahar</a></span>
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</figure>
<p>The new findings come from <a href="http://www.cell.com/cancer-cell/fulltext/S1535-6108(17)30062-4">research</a> led by Dr Joshua Schoenfeld of the University of Iowa. The paper was published last month in the journal Cancer Cell, and showed that vitamin C does not fight cancer directly as a drug, but by rendering radiotherapy and certain chemotherapy treatments more effective. </p>
<p>But where Pauling and his followers extolled supplements, Schoenfeld et al are proposing to directly infuse vitamin C into the patient’s bloodstream. It builds on previous findings that <a href="http://annals.org/aim/article/717329/vitamin-c-pharmacokinetics-implications-oral-intravenous-use">showed that</a> tablets taken orally will not deliver enough vitamin C into the body to be effective. </p>
<p>The research has completed a first phase that found the treatment improving survival prospects in mice, and that the vitamin C is safe and tolerable in patients having radio-chemotherapy. But to stress, if there is a successful final outcome to these trials, any treatment would never involve vitamin C pills from the local pharmacy. It would require a well controlled intravenous infusion. </p>
<h2>The way forward</h2>
<p>This research is an example of meticulous science dissecting vitamin fact from fiction. I am optimistic that new discoveries using megadoses will be made in the future. High doses of vitamin C may also be used to treat the pain <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125947/">from postherpetic neuralgia</a>, a nerve-related condition linked to shingles; while preliminary results suggest it may also help treat <a href="http://www.sciencedirect.com/science/article/pii/S0012369216625643">blood poisoning</a> (sepsis). </p>
<p>Megadoses of other water-soluble vitamins have also been proposed, including administering vitamin B3 as a treatment for damaged nerve endings (peripheral neuropathies) after a <a href="https://www.ncbi.nlm.nih.gov/pubmed/?term=Nicotinamide+riboside%2C+a+form+of+vitamin+B3+and+NAD%2B+precursor%2C+relieves+the+nociceptive+and+aversive+dimensions+of+paclitaxel-induced+peripheral+neuropathy+in+female+rats.">promising study</a> on rats. </p>
<p>There is probably also undiscovered potential among the fat-soluble vitamins – A, D, E and K – but megadoses of them can be dangerous. Too much vitamin A <a href="http://www.healthline.com/health/hypervitaminosis-a">can damage</a> the liver, for instance; while too much vitamin D <a href="http://www.healthline.com/health/hypervitaminosis-d#overview1">can cause</a> everything from fatigue and tinnitus to heart arrhythmias from too much calcium in the blood. </p>
<p>In such cases, the answer might be to design molecules that provide the equivalent of a hyperdose of vitamins but in a very targeted way to reduce the side effects. That is what I have been working on with colleagues at the universities of Aberdeen and Durham, as explained in <a href="https://www.youtube.com/watch?v=8-jiMpNCScM&feature=youtu.be">the clip</a> below. </p>
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</figure>
<p>We are designing new compounds that activate only one part of the vitamin A response via the retinoic acid receptor, without triggering other receptors. It should be possible to achieve similar results for other vitamins with receptors, most obviously vitamin D. </p>
<p>In conclusion, it certainly looks as though the pendulum swung too far in the other direction in reaction to Pauling. Schoenfeld et al have shown how very precise and careful science can extract the benefits from vitamin supplementation. It’s certainly not a new argument for taking oral supplements, but it is worth watching this space to see what emerges next.</p><img src="https://counter.theconversation.com/content/76472/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Peter McCaffery receives funding from the BBSRC.</span></em></p>Something exciting is going on – no thanks to the supplements industry.Peter McCaffery, Professor of Biochemistry, University of AberdeenLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/642672016-08-25T12:07:08Z2016-08-25T12:07:08ZHow a nasty, brain-eating parasite could help us fight cancer<figure><img src="https://images.theconversation.com/files/135351/original/image-20160824-30216-1jqm3x5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Meet Toxoplasma gondii.</span> <span class="attribution"><span class="source">Ke Hu and John M. Murray/wikimedia</span>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>We’ve known since the turn of the 20th century that some infectious diseases are a major risk for developing specific cancers. More worryingly, about <a href="http://www.ncbi.nlm.nih.gov/pubmed/22575588">one-sixth</a> of cancers worldwide are attributable to infectious agents. Globally, more than 2m cancer cases <a href="http://www.ncbi.nlm.nih.gov/pubmed/27470177">are linked</a> to certain carcinogenic <a href="http://www.ncbi.nlm.nih.gov/pubmed/18490686?dopt=Abstract">viral</a>, <a href="http://www.jimmunol.org/content/196/1_Supplement/208.13.shortinfections">bacterial</a> or <a href="http://www.ncbi.nlm.nih.gov/pubmed/26840624">parasitic</a> agents. Two-thirds of these occur in developing countries.</p>
<p>Although we’ve been aware of the connection between parasites and cancer since <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927383">before the 18th century</a>, we’re increasingly linking certain parasites to an increased risk of developing specific forms of cancer. For example, the fish-borne parasitic worms <em>Opisthorchis viverrini</em> and <em>Clonorchis sinensis</em> have been <a href="http://www.cancer.org/cancer/bileductcancer/detailedguide/bile-duct-cancer-risk-factors">linked to</a> increased risk of developing cancer of the bile duct (the tube that connects the liver to the intestines). Also, infection with the parasitic worm <em>Schistosoma haematobium</em> <a href="http://www.cancer.org/cancer/bladdercancer/index">can cause bladder cancer</a>. Worldwide, these three parasitic infections accounted for <a href="http://www.ncbi.nlm.nih.gov/pubmed/27470177">8,300 new cancer cases</a> in 2012.</p>
<p>Infections <a href="http://www.ncbi.nlm.nih.gov/pubmed/25963599">can lead to cancer</a> by directly manipulating the genes that control growth of the affected host cell – causing the cell to grow out of control. They can also cause cancer through long-term inflammation that leads to changes in the affected cells and in nearby immune cells or by suppressing a person’s immune system that normally helps protect the body from some cancers. But we also know that the body’s own immune defences can be used to fight tumour cells. And now a <a href="http://journals.plos.org/plosgenetics/article?id=info:doi/10.1371/journal.pgen.1006189">new study</a> suggests that a brain-eating parasite that has been <a href="https://infectagentscancer.biomedcentral.com/articles/10.1186/1750-9378-8-8">incriminated in cases of brain cancer</a> can be reprogrammed to treat ovarian cancer. </p>
<p>The <a href="https://geiselmed.dartmouth.edu/faculty/facultydb/view.php?uid=129">team of investigators</a> behind the new study set out to harness the immune system’s reaction to the presence of the parasite <em>Toxoplasma gondii</em> (<em>T. gondii</em>), which can be found in cat faeces, as a tool to cure ovarian cancer. Specifically, they identified specific proteins secreted by <em>T. gondii</em> that enable the immune system to attack established ovarian tumours in mice. This involved uncovering parasite specific proteins and associated host mechanisms that are important for the development of potent antitumor responses. The researchers deleted genes for proteins that the parasite injects into a host cell to modulate cell functions and immune response during infection. They also used the genetically altered parasites to vaccinate mice with aggressive ovarian cancer.</p>
<p>The results showed that active parasite invasion along with specific proteins secreted before and after penetration of mouse cells elicited an antitumour response and increased survival by at least 40 days (mice only live a couple of years) compared to non-vaccinated mice. While surviving a longer period with cancer can be considered as an improvement, these results should be handled carefully because vaccinated mice didn’t get rid of the cancer completely and we do not know how this treatment could affect tumour regression in humans.</p>
<h2>Terrifying bug</h2>
<p>In the field of parasitology no single parasite is as popular as <em>T. gondii</em>. This single-cell parasite, which affects one third of the world’s human population, is best known for its ability to invade and damage the brain and <a href="https://theconversation.com/how-mind-controlling-parasites-can-get-inside-your-head-57131">alter the behaviour</a> of affected individuals. Long before the Zika virus became a serious concern for expectant mothers, infection with <em>T. gondii</em> was terrifying not only to pregnant women, but also to individuals with seriously compromised immune systems, such as HIV/AIDS patients or patients on cancer therapies. This parasite can be passed along from mothers to the fetus, putting the developing babies at risk of severe neurological and vision disorders. It is very intriguing that what used to be a disturbing infection could potentially now be the remedy for an even more terrifying disease.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=403&fit=crop&dpr=1 600w, https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=403&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=403&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=506&fit=crop&dpr=1 754w, https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=506&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/135356/original/image-20160824-30228-4qr2ie.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=506&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Toxoplasma gondii tissue cyst in mouse brain.</span>
<span class="attribution"><span class="source">Jitinder P. Dubey</span></span>
</figcaption>
</figure>
<p>The idea of turning immune defences, elicited by parasitic infection, against illnesses is not new. Some worms have been shown to lessen susceptibility to type 1 diabetes and other autoimmune and inflammatory diseases, as well as to promote wound healing. However, the potential of exploiting the immune responses associated with <em>T. gondii</em> to help the immune system recognise and attack ovarian cancer, which is difficult to treat, is definitely out-of-the-box thinking and deserves to be commended. The same group of investigators has previously shown that the use of attenuated <em>T. gondii</em> can generate longlasting immunity that protects against the recurrence of <a href="http://www.ncbi.nlm.nih.gov/pubmed/27141388">disseminated pancreatic cancer</a>. But it is early days and much more work needs to be done to determine if a similar mechanism happens in humans. </p>
<p>As more is learned about the dynamic cross-talks between this parasite, immune cells and tumours it may be possible that <em>T. gondii</em> or some of its proteins can one day become a real remedy that can be used to cure ovarian cancer and hopefully other forms of cancer, too.</p><img src="https://counter.theconversation.com/content/64267/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Hany Elsheikha is affiliated with The European Scientific Counsel for Companion Animal Parasites (ESCCAP) of UK & Ireland and serves as Patron for Vis-a-Vis Symposiums – Lyme Disease Charity. </span></em></p>Scientists are making the terrifying useful.Hany Elsheikha, Associate Professor of Parasitology, University of NottinghamLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/554692016-03-04T17:43:18Z2016-03-04T17:43:18ZCan talcum powder really cause ovarian cancer?<figure><img src="https://images.theconversation.com/files/113574/original/image-20160302-25866-1haczgt.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Is it safe to put in your pants?</span> <span class="attribution"><a class="source" href="http://www.shutterstock.com/cat.mhtml?lang=en&language=en&ref_site=photo&search_source=search_form&version=llv1&anyorall=all&safesearch=1&use_local_boost=1&autocomplete_id=&searchterm=talcum%20powder&show_color_wheel=1&orient=&commercial_ok=&media_type=images&search_cat=&searchtermx=&photographer_name=&people_gender=&people_age=&people_ethnicity=&people_number=&color=&page=1&inline=381112549">www.shutterstock.com</a></span></figcaption></figure><p>The debate about whether or not talcum powder causes ovarian cancer has rumbled on for decades. However, it recently reached fever pitch after a <a href="http://www.theguardian.com/world/2016/feb/24/johnson-johnson-72-millon-babuy-talcum-powder-ovarian-cancer">US court</a> awarded damages to the family of a woman who died of ovarian cancer, allegedly as a result of having used talc as a feminine hygiene product for many years. Does that mean women should avoid using talcum powder? What does the science say? </p>
<h2>Industrial safety</h2>
<p>Talc is a form of <a href="http://www.drugs.com/inactive/magnesium-silicate-122.html">magnesium silicate</a>. Its history dates from ancient Arabic times and there was widespread European and American talc mining and processing in the 19th century. Most people are familiar with talc as a cosmetic or hygiene product, but it has many industrial uses too. It’s used to make ceramics, paints, paper and roofing materials. It’s useful as an industrial lubricant as it can withstand very high temperatures, so it’s useful for things such as the smooth running of <a href="http://www.eurotalc.eu/innovation">conveyor belts</a>. </p>
<p>Safety concerns often emerge first in the workplace, where levels and lengths of exposure are usually much higher than in domestic settings. As talc deposits are often found near <a href="https://theconversation.com/why-the-health-threat-from-asbestos-is-not-a-thing-of-the-past-52060">asbestos ore</a>, mined talc can be contaminated with asbestos.</p>
<p>In the 1960s <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=Ovarian+cancer+and+asbestos.+Environ+Res">questions emerged</a> about links between workers exposed to talc and ovarian cancer after researchers found that asbestos could cause cancer of the lungs and pleural cavity (the lining of the lungs). This triggered <a href="http://www.ncbi.nlm.nih.gov/pubmed/?term=Consumer+talcums+and+powders%3A+mineral+and+chemical+characterization">more detailed studies</a> in the 1970s of talc’s mineral and chemical composition. Some of these studies looked at lung diseases in talc miners and millers. </p>
<h2>Body talc</h2>
<p>In the 20th century, body talc became widely used as a domestic product because of its ability to absorb moisture and eliminate friction. If used as a feminine hygiene product, it has been suggested that the powder can reach the ovaries by travelling through the <a href="http://www.cancer.org/cancer/cancercauses/othercarcinogens/athome/talcum-powder-and-cancer">vagina, uterus and fallopian tubes</a>.</p>
<p>Despite home talc products going <a href="http://www.cancer.org/cancer/cancercauses/othercarcinogens/athome/talcum-powder-and-cancer">asbestos-free in the 1970s</a>, there were still concerns that talc was linked to ovarian cancer and so the research focus moved to asbestos-free talc.</p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=568&fit=crop&dpr=1 600w, https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=568&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=568&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=714&fit=crop&dpr=1 754w, https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=714&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/113579/original/image-20160302-25908-im8d73.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=714&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">A block of talc. Also known as soapstone.</span>
<span class="attribution"><a class="source" href="https://upload.wikimedia.org/wikipedia/commons/f/fd/Talc_block.jpg">Wikimedia</a></span>
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</figure>
<h2>Ovarian cancer</h2>
<p>Ovarian cancer has several known risk factors. When health agencies list different risk factors they sometimes also give weight to each of these. For example the International Agency for Research on Cancer lists talc-based body powder as associated with ovarian cancer when applied between the legs, observing a “modest but unusually consistent excess in risk” in many <a href="http://monographs.iarc.fr/ENG/Monographs/vol93/mono93-8F.pdf">case-control studies</a>. This marks a change from its 1987 report which found there was inadequate evidence for talc causing cancer in humans. </p>
<p>The American Cancer Society noted that studies produced mixed findings and considered that, if there was a risk, the risk would be very small. Still, the society thought that because talc was so widely used in many different products more research should be done to establish if the risks were “<a href="http://www.cancer.org/cancer/cancercauses/othercarcinogens/athome/talcum-powder-and-cancer">real</a>”.</p>
<p>The <a href="http://www.eurotalc.eu/health-and-safety">European talc industry association</a> considered the suggested link between talc use between the legs and ovarian cancer in US case-control studies to be highly controversial because the observed differences in risk between the talc users and the non-talc users was slight. Instead, the association cites two studies from 2005 and 2006 to back its position. One of the studies – a prospective cohort study – did not find a “substantial association” between using talc on the genitals and an increase in ovarian cancer risk. (Prospective cohort studies are considered to be a higher quality of evidence than case-control studies.)</p>
<p>Cancer Research UK has examined various risk factors and preventive factors for ovarian cancer including age, genetics, weight, various other diseases and hormones as well as <a href="http://www.cancerresearchuk.org/about-cancer/type/ovarian-cancer/about/ovarian-cancer-risks-and-causes">talc use between the legs</a>. While it rates different levels of risk for these factors, its position on talc is that the risk is not clear and if any risk is found it will be “<a href="http://scienceblog.cancerresearchuk.org/2016/02/27/news-digest-pancreatic-cancer-redefined-chemo-tricks-to-tackle-cancer-evolution-talcum-powder-and-carrots/">fairly small</a>”. </p>
<p>But more recent scientific studies continue to confirm a trend that links talc use and epithelial ovarian cancer (the most common type of ovarian cancer). <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766843/">A 2013 analysis</a> led by Harvard University of 8,525 ovarian cancer cases and 9,859 controls concluded that genital talc powder use is associated with a small-to-moderate increase in risk of various sub-types of ovarian cancer. It found that “genital powder use was associated with a similar increased risk of borderline and invasive ovarian cancer overall”. They also noted that, as there are few ovarian cancer risks women can avoid, “avoidance of genital powders may be a possible strategy to reduce ovarian cancer incidence”. This would seem a wise precautionary policy.</p><img src="https://counter.theconversation.com/content/55469/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Andrew Watterson does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Some studies have found a link between the long-term use of talcum powder as a feminine hygiene product and an increased risk of ovarian cancer.Andrew Watterson, Chair in Health Effectiveness, University of StirlingLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/402462015-06-30T20:10:43Z2015-06-30T20:10:43ZBrace yourself, genetic testing might give you more than you bargained for<p>Drink red wine to prevent cancer. But don’t drink too much! Get some exercise. But don’t overdo it. Give up, it’s all genetic anyway – think of Angelina Jolie! </p>
<p>We are constantly bombarded with conflicting information about our risk of developing cancer. It is difficult to know who to believe, let alone how to respond. </p>
<p>What if you could take a simple test that would reveal your individual risk of developing not only a range of cancers, but hundreds of other diseases? Imagine if it could also tell you which drugs would be most effective for you, if you did develop cancer or other diseases. </p>
<p>The rapidly reducing cost of DNA sequencing has made this one-time fantastical idea an emerging reality. Only 10 years ago it <a href="https://www.nhmrc.gov.au/health-topics/genetics-and-human-health/genetics-101-overview/sequencing-your-genome">cost about US$10 million</a> to sequence a human genome, so there was little prospect that individuals would, or could, seek out their own unique genetic maps to find out more about their ancestry or their inherited health risks. </p>
<p>Recent advances in genetics mean genetic sequencing is <a href="https://www.scienceexchange.com/services/whole-genome-seq">more affordable</a> (US$1,000 to US$3,000) and already guiding treatment across a range of illnesses from cancer to degenerative brain diseases. </p>
<p>New unregulated direct-to-consumer businesses are emerging, making it possible for anyone to order their individual genetic profile by posting off a saliva sample taken at home. But do you really know what you are signing up for?</p>
<h2>The age of personalised medicine</h2>
<p>Personalised medicine means using a patient’s genome to both predict their likelihood of developing certain diseases, and to guide which treatments are most likely to be effective in a particular individual. It’s also called customised medicine, precision medicine, individualised medicine, bespoke medicine and targeted medicine. </p>
<p>Our genes hold our hereditary information. Every cell in the human body is made up of about 20,000 genes that are passed down from parents to child. Genes contain information that instructs the growth, development and function of the human body. Some genes control simple characteristics such as hair colour and height, others influence complex characteristics such as intelligence. Some genes control how other genes work, telling them when to switch on and off. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=397&fit=crop&dpr=1 600w, https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=397&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=397&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=499&fit=crop&dpr=1 754w, https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=499&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/84995/original/image-20150615-6496-1eh4xg.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=499&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
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<span class="caption">Some genes control simple characteristics such as hair colour and height, others influence more complex characteristics like intelligence.</span>
<span class="attribution"><span class="source">from www.shutterstock.com</span></span>
</figcaption>
</figure>
<p>We all have alterations, or mutations, in our DNA. Mutations can be passed down from parents to children, or can occur spontaneously, especially as we age. Some are harmless and may determine, for example, <a href="http://udel.edu/%7Emcdonald/mythearwax.html">whether our ear wax</a> is wet or dry.</p>
<p>However, a mutation in an important gene that prevents it from working properly, or a gene that is missing altogether, can have serious consequences. Early genetic testing focused on debilitating inherited diseases, such as cystic fibrosis and Huntington’s disease, that are caused by mutations in single genes. Tests looked only for a known mutation in a specific gene to confirm or rule out the associated condition. </p>
<p>As testing has become more sophisticated, we have been able to extend this approach to more complex conditions such as cancer. Mutations in two genes called BRCA1 and BRCA2 are associated with an increased risk of developing breast and ovarian cancer, and can be inherited within families. </p>
<p>BRCA1 and BRCA2 normally help clean up mistakes in our DNA that our cells can make when they divide, a process called DNA repair. When either of these genes is altered or mutated, this protective function is disabled, leading to uncontrolled replication of cells with mistakes. This can lead to cancer. </p>
<p>The good news is that we can test for these mutations, and patients can then use the results of this test to assess their risk of developing cancer, and make informed choices. This is the same hereditary genetic mutation that prompted Angelina Jolie to have a preventative <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=0">double mastectomy</a> two years ago, and preventative <a href="http://www.nytimes.com/2015/03/24/opinion/angelina-jolie-pitt-diary-of-a-surgery.html?referrer=&_r=3">surgery to remove her ovaries</a> this year.</p>
<p>The other good news is that in recent years scientists have discovered that patients with mutations in BRCA1 and BRCA2 are exquisitely sensitive to some forms of chemotherapy and a second type of drug called a PARP inhibitor. The same mutation that generates the mistakes in these cells can actually <a href="http://www.onclive.com/conference-coverage/mbcc-2015/Excitement-Building-for-PARP-Inhibitors-in-BRCA-Mutated-Breast-Cancer">make them more responsive</a> to this drug. Decisions about treatment can then be “personalised” to the individual.</p>
<h2>What does the future hold?</h2>
<p>Currently, health systems in Australia and overseas do not offer patients the option of sequencing their entire genome as a means of identifying and managing future health risks. Today genetic testing is only available in Australia for specific genes, is tightly regulated and is used only when symptoms are apparent, or a genetic risk is likely, such as a close relative developing a particular cancer or condition.</p>
<p>In five to 10 years’ time, however, we may be facing very different choices, including the option to look for future diseases before they actually occur. </p>
<p>As many cancers do not appear until middle age or later, a young healthy person might discover they have various elevated risks among the many anomalies a DNA test could throw up. Such results might not be provided by a medical professional, but by a commercial operator, and without genetic counselling to explain what they mean to the individual and their family.</p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=705&fit=crop&dpr=1 600w, https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=705&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=705&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=886&fit=crop&dpr=1 754w, https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=886&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/84996/original/image-20150615-6479-enisbm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=886&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Insurance companies could use genetic profiles to deny higher-risk individuals various types of insurance, or increase their premiums.</span>
<span class="attribution"><span class="source">from www.shutterstock.com</span></span>
</figcaption>
</figure>
<p>What might the implication be of a high-risk result? Should an individual’s relatives be informed, as their risk may also be high, or do they have a right not to know? And what about minors: will parents have the right, or even an obligation, to test babies and children for potential genetic risks, even if medical science offers no prevention or treatment options? </p>
<p>Are we psychologically equipped for these kinds of dilemmas and scientifically literate enough to interpret our own results? </p>
<p>There are currently many reasons to be cautious. First, there are potentially millions of genetic alterations. Most are still not understood. Personalised medicine cannot currently give anyone a comprehensive picture of individual risk simply because far too much remains unknown.</p>
<p>Second, personalised medicine can only indicate elevated risks, it cannot determine whether or not a patient will actually go on to develop a certain type of cancer. Environment and lifestyle also play a big role in our health. </p>
<p>Insurance companies, however, deal entirely in risk. That means genetic profiles could be used to deny higher-risk individuals various types of insurance, or increase their insurance premiums.</p>
<p>Third, health outcomes for some individuals may be based on the financial viability of developing drugs. Many drugs and therapies are currently used for large numbers of patients, making them financially viable for pharmaceutical companies to develop. Genetically targeted cancer drugs, suitable for much smaller groups of patients, may be extremely expensive or might not be brought onto the market at all if society is not willing or cannot afford to pay for them. </p>
<p>Fourth, we may be at risk of eroding our quality of life by creating a new state of “worried wellness”, waiting for disease to strike.</p>
<p>Finally, we may not be sufficiently savvy consumers. New commercial operators are coming onto the global market offering a range of largely unregulated services. Currently, you don’t get much more than details of your ancestry for a US$99 DNA test. But more specialised businesses are emerging that <a href="https://lifeletters.com/">offer</a>, for example, to “identify potential health risks that are present now or may develop in the future”. </p>
<p>Is this just hype, and offering unsubstantiated hope to consumers, or does this represent the first stage of patient empowerment over their own health and lifestyle choices? It will be fascinating to watch this new age of personalised medicine develop in the coming years.</p><img src="https://counter.theconversation.com/content/40246/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>What if you could take a simple test to reveal your individual risk of developing a range of cancers and hundreds of other diseases?Caroline Ford, Lab Head, Metastasis Research Group, Lowy Cancer Rearch Centre, UNSW SydneyOrin Chisholm, Program Authority and Senior Lecturer, Pharmaceutical Medicine, UNSW SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/393222015-03-26T11:08:39Z2015-03-26T11:08:39ZAngelina Jolie’s surgery got you worried? Here’s what you should know about ovarian cancer risk<p>Following <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html">her 2013 announcement</a> in the op-ed pages of The New York Times that she was having a double mastectomy, US actress <a href="http://www.nytimes.com/2015/03/25/science/experts-back-angelina-jolie-pitt-in-choices-for-cancer-prevention.html">Angelina Jolie Pitt has published another piece</a> this week discussing her decision to have her ovaries and fallopian tubes removed to mitigate her high genetic risk of cancer. </p>
<p>Jolie Pitt carries a faulty BRCA1 gene, which predisposes women to developing breast and ovarian cancer. Three women in her family – her mother, aunt and grandmother – were diagnosed with breast or ovarian cancer while still under the age of 60. All three died of their illness.</p>
<p>The publicity surrounding her double mastectomy led to what researchers and <a href="http://www.usatoday.com/story/life/movies/2015/03/24/angelina-jolie-alerts-women-to-cancer-threat-again/70372166/">the media have dubbed</a> the “Jolie effect”. An <a href="https://www.mja.com.au/insight/2013/44/genetic-testing-appropriate">Australian study</a> published six months after Jolie Pitt’s disclosure found referrals to familial cancer centres in Victoria more than doubled, and 64% involved people with a high risk of breast cancer. A <a href="http://breast-cancer-research.com/content/16/5/442">similar UK study</a> showed that in the year following her May 2013 announcement, referrals to 12 family history clinics increased over twofold. </p>
<p>But ovarian cancer, as you will see, is very different to breast cancer in that it’s very rare. So those of us who work in the field actually hope there’s no Jolie effect in this instance because it’s likely to cause a lot of worry to women who don’t need to be concerned and to divert resources away from those who do.</p>
<h2>BRCA and cancer risk</h2>
<p>The genes known as BRCA1 and BRCA2 usually help prevent cancers. Everyone has two copies of both but, in some people, one of the copies of either has an error or fault so it doesn’t work properly. The result is a high risk of developing breast and ovarian cancer at younger ages than usual.</p>
<p>The <a href="http://ovarian.org.uk/about-ovarian-cancer/ive-tested-positive-for-a-genetic-mutation">lifetime risk of ovarian cancer</a> for a woman with a faulty BRCA1 gene is about 40% to 60%. This risk increases from her late 30s and continues on an upward trajectory with age. Breast cancer risk is also higher for these women and can be up to 80% depending on family history. </p>
<p>The ovarian cancer risk for a BRCA2 fault is not as high as for BRCA1, at between 15% and 25%. </p>
<p><a href="http://jco.ascopubs.org/content/early/2012/06/18/JCO.2011.39.8545.abstract">An estimated one in five ovarian cancers</a> occurring at or before the age of 60 is due to a faulty BRCA gene. But only around 1% to 2% of women carry a faulty BRCA gene. Most women without it have only a 1% risk of developing ovarian cancer and a 10% risk of developing breast cancer. </p>
<p>Other gynaecological cancers, such as cervical or uterine cancer, are not known to be associated with the BRCA genes. </p>
<h2>Mitigating risk</h2>
<p>The surgery Jolie Pitt has just undergone involved the removal of both her ovaries, as well as fallopian tubes. That’s because <a href="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380637/">evidence suggests</a> cancer can start in the tubes and travel to the ovaries. </p>
<p>Removing both ovaries and tubes of women with a BRCA fault reduces ovarian cancer risk by 90%. The remaining risk is due to cancer cells that may have already travelled to other sites. </p>
<p>It’s important to note that some women with a BRCA fault who have had their ovaries and tubes removed go on to develop what’s called primary peritoneal cancer some years later. This can happen even if the tubes looked normal when they were removed. A cancerous cell may have already spread into the peritoneal cavity before surgery, or cancer could have developed there independently. Cells lining the peritoneum can cause a cancer that looks indistinguishable from ovarian cancer. </p>
<p>Removing both ovaries also has the benefit of reducing breast cancer risk by 50%, likely due to the onset of early menopause. A downside of having this surgery is that it prompts the change of life, or menopause, at a younger age. Most women having their ovaries and tubes removed because of a high ovarian cancer risk do so five to ten years before the age of natural menopause, which is around 50-years-old. </p>
<p>Early menopause can result in health issues such as an increased risk of heart disease and osteoporosis, which can be mitigated by hormone replacement therapy. Because of this, a doctor will advise the woman about whether she should use hormone replacement, which may also help delay or reduce the onset of menopausal symptoms, such as hot flushes, premature ageing of tissues, vaginal thinning (causing sexual discomfort) and decreased libido. </p>
<p>One way to reduce the risk of ovarian cancer is by using the oral contraceptive pill, <a href="http://www.ncbi.nlm.nih.gov/pubmed/19190154">which can halve your risk with five years of use</a>. </p>
<h2>Don’t panic</h2>
<p>Of course, it would be far better to have a reliable screening test to detect ovarian cancer at an early, curable stage before women develop symptoms. Sadly, neither of the two tools we have now can do this. </p>
<p>The CA-125 blood test is no longer recommended because it detects cancer at a point when it can no longer be cured. And internal pelvic ultrasounds, which look for abnormalities in the ovary, are not sensitive enough to pick up early changes. Both help diagnose established cancers that would usually be picked up within three months anyway because of symptoms. </p>
<p>Jolie said she had planned to have her ovaries and tubes removed ten years before the youngest woman in her family was diagnosed, but this is not a universal rule for women who carry a BRCA fault. Usually, we use the more blanket approach of surgery around 40 years of age, which is when most women have had their children. Earlier surgery would further increase the risk of problems associated with early menopause.</p>
<p>Women who have had ovarian cancer and are concerned about others in their family should ask their doctor whether the BRCA genes might have played a role in their illness. Those who have a close relative, such as a mother or a sister, who was diagnosed with ovarian cancer while younger than 70 should contact <a href="http://ovarian.org.uk/">Ovarian Cancer Action (UK)</a>, <a href="https://ovariancancer.net.au/">Ovarian Cancer Australia</a>, <a href="http://www.ovariancancer.org/">Ovarian Cancer National Alliance (US)</a> or consult their doctor. </p>
<p>Genetic counselling and testing through a familial cancer centre may be recommended for some. For women who have the faulty BRCA genes, there’s ongoing peer and professional support.</p>
<p>Women who don’t have a close relative with ovarian cancer do not need to seek advice based on the surgery Jolie has just undergone. </p>
<p>Jolie Pitt’s op-ed about her double mastectomy had a positive impact as it galvanised many women to have their risk of breast cancer assessed, including some who needed to be tested for the BRCA mutation. This latest announcement should not have the same effect as far fewer women are at high risk of ovarian cancer.</p>
<p><em><strong>Acknowledgement</strong>: This article was co-authored by Maira Kentwell, senior genetic counsellor and manager of the Department of Genetic Medicine and Familial Cancer Centre, The Royal Melbourne Hospital.</em></p><img src="https://counter.theconversation.com/content/39322/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Clare Scott does not work for or own shares in or receive funding from any company or organisation that would benefit from this article. She acts in an advisory capacity to AstraZeneca (all Honoraria donated to Medecins Sans Frontiers) and has received travel support from AstraZeneca.</span></em></p>Jolie Pitt has announced more surgery, this time to mitigate her risk of developing ovarian cancer. But this should ideally not have the same “Jolie effect” as her last operation.Clare Scott, Medical Oncologist and Laboratory Head, Walter and Eliza Hall InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/393292015-03-26T09:16:02Z2015-03-26T09:16:02ZAngelina Jolie Pitt’s surgery is just one option for women at risk of cancer<figure><img src="https://images.theconversation.com/files/75948/original/image-20150325-14526-zd2td.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Jolie Pitt: wants other women at risk to know about the options. </span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/gageskidmore/4840431698/in/photolist-8nJtGW-nDRoFv-bnJ6DC-8nJuQm-oXRRx5-nUhsSm-nVfwMi-2tcKwJ-BbQ6F-41Gn9-d8dPRj-d8dPGw-nEkL9X-zHfjD-e6gD6u-p9kwZ8-6uYDGk-7Ku9Wj-41Gnu-e6gD6b-6jVLTS-ogvd7c-qF7rAt-pkwGT2-auWwBn-41GmD-2D2hHu-41Gow-41GnY-9wq5f6-oENEMF-osnUD3-4fCohx-4Qt4vn-oXmMF8-bCKVtU-8JWa46-oZAqU8-o12Tq4-oejxCU-cS6oFh-p3jBkT-8U1SBa-oMbTBR-qB1bWU-pDbVjJ-82YwjC-d8dPNm-d8dPKC-d8dPWC">Gage Skidmore</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>Hollywood actress Angelina Jolie Pitt has <a href="http://www.nytimes.com/2015/03/24/opinion/angelina-jolie-pitt-diary-of-a-surgery.html?_r=0">revealed in the New York Times</a> that she had her ovaries and fallopian tubes removed to prevent ovarian cancer. Two years ago she underwent a double mastectomy and breast reconstruction after she was found to carry a mutation, or alteration, on the BRCA1 gene. This was inherited from her mother, who developed ovarian cancer aged 49.</p>
<p>The BRCA1 and BRCA2 genes were first identified more than 20 years ago. They can increase the risk of breast and ovarian cancer, if a person carries an alteration in one of these genes. The <a href="http://www.cancerresearchuk.org/about-cancer/type/breast-cancer/about/risks/breast-cancer-genes">risk of breast cancer</a> with BRCA1 and BRCA2 is around 50-80% over a lifetime and around 10-50% for ovarian cancer. </p>
<p>In addition to knowing she had alteration on her BRCA1 gene, Jolie Pitt also had other tests to monitor for signs of early cancer. These included an annual check for elevated levels of the protein CA-125 in her blood. She said she had been planning on removing her ovaries for some time but opted to have the operation sooner after other tests revealed an elevated “number of inflammatory markers” that could be together a sign of early cancer. </p>
<h2>The salpingo-oophorectomy</h2>
<p>Jolie Pitt’s decision to undergo a <a href="http://www.obgyn.med.umich.edu/sites/obgyn.med.umich.edu/files/handouts/ph_lap_bilat_salpingo-oopherectomy.pdf">laparoscopic bilateral salpingo-oophorectomy</a> – when both ovaries and fallopian tubes are removed using a fibre-optic camera and surgical tools inserted through several small incisions in the abdomen – was linked to her family history. Her mother, grandmother and aunt all died of the disease. As she put it: “I know my children will never have to say, ‘Mom died of ovarian cancer.’” </p>
<figure class="align-left zoomable">
<a href="https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=562&fit=crop&dpr=1 600w, https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=562&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=562&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=707&fit=crop&dpr=1 754w, https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=707&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/75950/original/image-20150325-14494-1f026nk.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=707&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">fallopian.</span>
<span class="attribution"><a class="source" href="http://en.wikipedia.org/wiki/Fallopian_tube#/media/File:Scheme_female_reproductive_system-en.svg">Mysid</a></span>
</figcaption>
</figure>
<p>Up to 70% of female BRCA carriers, like Angelina, opt for this kind of surgery, which reduces the risk of developing ovarian cancer by around 95%. It is usually offered to women who are at high risk of developing ovarian cancer but have completed their family – and not usually before the age of 35-40. If this type of surgery is carried out before a woman is 45 it can also reduce her risk of getting breast cancer. There is a small risk of complications including bleeding and infection, but women can return to full activity after two to six weeks. However they will enter the menopause early afterwards and will be offered hormone replacement therapy.</p>
<p>However, as Jolie Pitt acknowledged, there are different options out there for women who are at risk of cancer through a mutation in one or both genes. Options include monitoring signs of early cancer, or removing fallopian tubes but keeping ovaries, which would leave the option for having more children or avoiding early menopause. </p>
<h2>Tests, drugs and screening</h2>
<p>Breast MRI scans are carried out annually in the UK for women between the ages of 30 and 50 (and mammograms from 40). But extra breast screening is offered to women in the who carry a BRCA gene alteration. </p>
<p>We still don’t know how far drugs can prevent cancer developing in BRCA gene carriers. Tamoxifen, for example, can help protect against breast cancers that respond to the female hormone oestrogen, but data on its use in BRCA carriers is limited.</p>
<p>Ovarian screening is unproven. Research studies <a href="http://www.instituteforwomenshealth.ucl.ac.uk/womens-cancer/gcrc/ukfocss">such as UKFOCSS</a> (the UK ovarian cancer screening study), which recruited 5,000 high-risk women to an ovarian screening programme where they were offered annual ultrasound and CA-125 blood tests, has not yet shown any definite benefit in detecting the cancer early. Symptoms of ovarian cancer are non-specific, and often diagnosis is delayed. </p>
<p>A number of research groups are looking for new markers for ovarian cancer to improve detection, such as the <a href="http://www.ucl.ac.uk/hbrc/research/cancer_screening/understanding_screening_attitudes_behaviour/promise16">PROMISE 2016 project</a> at UCL’s Institute for Women’s Health. These tests are not yet ready for clinical use. </p>
<p>The contraceptive pill and tubal ligation (where the fallopian tubes are cut or tied in a woman who has completed her family) may reduce ovarian cancer risk, but for BRCA carriers this risk remains significantly increased.</p>
<p>Testing for BRCA1 and BRCA2 is <a href="https://theconversation.com/greater-access-to-genetic-testing-in-nhs-will-help-cancer-fight-14448">becoming more widely available</a>, and women who have breast or ovarian cancer may not need a family history to be offered genetic testing. This group includes women under 50 who have a type of breast cancer called triple negative, and women with high-grade serous ovarian cancer. The outlook for women with BRCA gene alterations will improve, with greater access to genetic testing and screening and risk reducing surgery for women who have not yet developed cancer. </p>
<p>As Jolie Pitt said, there are options but not easy decisions, and “you can seek advice, learn about the options and make choices that are right for you.”</p><img src="https://counter.theconversation.com/content/39329/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Lucy Side receives grant funding from Cancer Research UK, looking at risk prediction for ovarian cancer at UCL's Institute for Women's Health, and Eve Appeal
</span></em></p>Genetic testing for cancer will become more common and risk reducing surgery is one way to cut the risk.Lucy Side, Consultant Senior Lecturer in Clinical Genetics, UCLLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/326392014-10-07T12:56:25Z2014-10-07T12:56:25ZFirst pictures of BRCA2 protein shows role in DNA repair and cancer risk<p>It is <a href="https://theconversation.com/panicking-about-breast-cancer-heres-what-you-need-to-know-14256">well established that faults</a> in the BRCA2 gene (and the BRCA1 gene that <a href="https://theconversation.com/panicking-about-breast-cancer-heres-what-you-need-to-know-14256">prompted actress Angelina Jolie</a> to undergo a mastectomy) <a href="http://www.cancerresearchuk.org/about-cancer/type/breast-cancer/about/risks/breast-cancer-genes">increase the risk</a> of breast, ovarian, prostate and other cancers. And since its discovery 20 years ago, this gene and its protein product, also called BRCA2, have been under intensive investigation. </p>
<p>The importance of the BRCA2 protein lies in the central roles it plays in DNA damage repair – but we’ve never actually seen it before now. Using electron microscopy, we’ve been able to get 3D pictures of the BRCA2 protein for the first time. These pictures, <a href="http://www.nature.com/nsmb/journal/vaop/ncurrent/full/nsmb.2899.html">published in</a> Nature Structural and Molecular Biology, not only reveal its structure and how it interacts with other proteins and DNA but will help in further understanding its role in DNA repair and <a href="https://theconversation.com/greater-access-to-genetic-testing-in-nhs-will-help-cancer-fight-14448">cancer risk</a>.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=469&fit=crop&dpr=1 600w, https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=469&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=469&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=589&fit=crop&dpr=1 754w, https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=589&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/61037/original/yjccj5yt-1412677096.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=589&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Reconstruction of BRCA2 in 3D.</span>
<span class="attribution"><span class="source">Nature Structural and Molecular Biology</span></span>
</figcaption>
</figure>
<h2>When repair goes wrong</h2>
<p>The risk of breast cancer with BRCA1 and BRCA2 is around 50-80% over a lifetime and around 10-40% for ovarian cancer.</p>
<p>Our genomic DNA contains the information required for replication as well as instructions for making proteins, which then carry out the majority of cellular activities. So the integrity and fidelity of DNA are extremely important for the function and proliferation of the cells. However, due to toxic chemicals, UV irradiation and other natural metabolic by-products, our DNA suffers tens of thousands of events each day that cause damage. </p>
<p>Among the various forms of DNA damage, the most severe type is DNA double-strand breaks, as un-repaired or incorrectly repaired breaks can lead to mutations, chromosomes translocation (an abnormality caused by rearrangement of parts between chromosomes with the same genes) and deletion, all of which can contribute to cell death or cancer development. </p>
<p>BRCA2 plays a central role in repair, which uses an undamaged sister chromatin (a family of macromolecules that consist of DNA, protein and RNA in cells) as a template for faithful repair. In this process, the damaged DNA is first processed to create a single stranded DNA tail. Molecules called RAD51 form well-ordered filaments on the single stranded DNA tail, aided by BRCA2, and this long filament is then used to search for matching strands in the sister chromatin. </p>
<p>But if there are mutations in BRCA2 this can cause defects in this repair process, making the repair inefficient or forcing cells to use alternative repair methods that are prone to mistakes, all of which contribute to mutations in the genomic DNA and so increase the risk of cancer developing. </p>
<p>If we could understand how intact BRCA2 protein repairs DNA, and the nature of the mutations, we could then develop methods to correct the defects in BRCA2 to ensure repair is carried out properly. Alternatively, we could develop ways to hamper repair in cancer cells so that they are left to die.</p>
<h2>Extracting proteins</h2>
<p>One of the most powerful methods to investigate how a protein works is knowing its 3D structure. These 3D structures not only tell us what a protein or a protein complex looks like, but also how they work. However, to study protein structures we need to find a way to extract the protein of interest from other proteins in the cell. With 3,418 amino acids as building blocks, BRCA2 is one of the largest proteins in the cell – and one of the most difficult. </p>
<p>In 2010, three independent groups finally accomplished the task of <a href="http://www.nature.com/nsmb/journal/v17/n10/full/nsmb.1905.html">purifying the BRCA2 protein</a>; among them was Stephen West of the Cancer Research UK London Research Institute, who is also joint lead author of our research. This enabled us to use electron microscopy to image thousands of purified BRCA2 molecules or BRCA2-RAD51 complexes that could subsequently be analysed using computers and algorithms. This allowed us to determine and align differently oriented molecules to generate 3D structures of BRCA2 as well as its complex with RAD51.</p>
<h2>What we discovered</h2>
<p>Our study reveals that BRCA2 proteins exist as pairs and a BRCA2 pair recruits two sets of RAD51 molecules. Our study also showed how a single-stranded DNA binds across the BRCA2. We also showed that BRCA2 increases the number of short RAD51 filaments on the DNA. These multiple filaments are then linked to form a longer filament, which is required for searching for the matching strand. These results not only define the precise roles of BRCA2 in helping RAD51 form filaments, but how it helps RAD51 load onto single-stranded DNA. </p>
<p>Our studies set the foundation for a greater understanding of BRCA2 protein’s structures and mechanisms. With increasing knowledge of the workings of this important protein, we will be a step closer to develop therapeutics to protect healthy cells and to combat cancer.</p><img src="https://counter.theconversation.com/content/32639/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Xiaodong Zhang receives funding from Wellcome Trust, MRC, BBSRC, Cancer Research UK and the Royal Society</span></em></p>It is well established that faults in the BRCA2 gene (and the BRCA1 gene that prompted actress Angelina Jolie to undergo a mastectomy) increase the risk of breast, ovarian, prostate and other cancers…Xiaodong Zhang, Professor of Macromolecular Structure and Function, Imperial College LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/293052014-07-18T05:30:31Z2014-07-18T05:30:31ZStitching mice together reveals how ovarian cancer spreads<figure><img src="https://images.theconversation.com/files/54136/original/3rcpzg78-1405607385.jpg?ixlib=rb-1.1.0&rect=0%2C91%2C2186%2C1704&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Not cancer's only target.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/hey__paul/6122874024/">hey__paul</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>Ovarian cancer is the fifth highest killer in women when it comes to cancer, according to statistics from the <a href="http://www.cancer.org/cancer/ovariancancer/detailedguide/ovarian-cancer-key-statistics">American Cancer Society</a>, with about 14,000 deaths in the United States alone this year. The disease is particularly nasty because it starts to spread to other tissues much earlier than other cancers do.</p>
<p>Once the spread starts, the tissue that suffers first tends to be belly fat. Previously it was thought this spreading occurred through simpler means. However, new research published in the journal <a href="http://www.cell.com/cancer-cell/abstract/S1535-6108(14)00192-5">Cancer Cell</a> shows that the spreading actually happens via the blood. This could help develop new ways to prevent the spread.</p>
<p>The fatty tissue in the abdomen is a prime target for ovarian cancer cells because they produce a protein called NRG1. Once cancer cells have access to NRG1, they activate another protein, called HER3, which lets them multiply rapidly. Once the spread begins to the fat cells in the abdominal area, cancer cells can spread easily to the liver or lungs. </p>
<p>Since that abdominal area is so close to the ovary, researchers had assumed that the cancer cells simply detach from the ovary and float in the fluid filling the area till they reach the abdominal area. Yet, doctors would often observe that patients had tumours at the side of the fatty tissue that was quite far away from the ovary. Sometimes patients would show metastatic tumours in other organs like the liver or lungs but not in the abdominal area surrounding the ovary. Could it be that cancer cells were also using blood vessels to make their escape?</p>
<p>Researchers at MD Anderson Cancer Centre of the University of Texas, led by cancer biologist <a href="http://faculty.mdanderson.org/Anil_Sood/">Anil Sood</a>, came up with an innovative experiment to find the route cancer cells take. They physically joined two mice by stitching their skin together from hip to shoulder. After the surgery, the two mice ended up sharing a common blood circulatory system with their blood vessels fusing. </p>
<p>One of the mice among the artificially conjoined twins was made to develop ovarian cancer. If only the twin with ovarian cancer saw a spread of cancer to the abdominal area, it would prove that the previous theory about how ovarian cancer spread was right. But, instead, if the both twins saw development of cancer in their respective abdominal area, then the only way that could happen was through spreading via the blood.</p>
<p>Sood’s observation confirmed the latter scenario. Since the healthy twin’s abdomen was not physically close to the diseased ovary but still develop cancer, those cancer cells must have spread via the blood.</p>
<p>Interestingly, comparing the cancer cells that reached the healthy twin with the ones in the diseased ovary, the researchers found the travelling cancer cells were producing high amounts of a protein called HER3. In fact, cancer cells with more HER3 formed larger tumours in the abdominal area. And reducing the amount of HER3 protein in the cancer cells shrank the tumours in that area.</p>
<p>Sood thinks what preferentially brought the cancer cells to the healthy twin’s abdominal fat was the NRG1 protein, which then switches on HER3. To confirm that this happens in humans too, Sood checked patient records and found that those who had higher levels of HER3 protein in the tumour succumbed to the disease faster. </p>
<p>The discovery could help in developing better treatments. HER3 is a close cousin of the protein HER2 that is famous for being a drug target in breast cancer. Drugs that block HER2 may work against HER3 as well. In fact, a drug called pertuzumab, developed for breast cancer patients with high levels of HER2, is currently undergoing <a href="http://clinicaltrials.gov/show/NCT01684878">clinical trials</a> for patients with ovarian cancer, conducted by Hoffmann-La Roche. </p>
<hr>
<p><em>Next, read this: <a href="https://theconversation.com/now-we-know-why-drugs-dont-work-on-pancreatic-cancer-28420">Now we know why drugs don’t work on pancreatic cancer</a></em></p><img src="https://counter.theconversation.com/content/29305/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Anwesha Ghosh does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Ovarian cancer is the fifth highest killer in women when it comes to cancer, according to statistics from the American Cancer Society, with about 14,000 deaths in the United States alone this year. The…Anwesha Ghosh, PhD student in Biology, University of RochesterLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/248682014-03-31T05:13:43Z2014-03-31T05:13:43ZIf you have a genetic predisposition to cancer, it’s better to know about it<figure><img src="https://images.theconversation.com/files/44943/original/hhpwgdfv-1395940757.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">What's on your plate?</span> <span class="attribution"><a class="source" href="http://www.flickr.com/photos/35168673@N03/7227543906/sizes/l">libertygrace0</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>Most cancers happen by chance and there is no obvious inherited reason for them. However a small proportion of cancers occur as a result of a genetic predisposition because a gene passed down through generation of a family carries a mutation – this was <a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">the reason behind</a> actress Angelina Jolie’s decision to opt for a double mastectomy last year. </p>
<p>People with a strong family history of cancer – especially if many members of their family have been diagnosed with cancer, especially at a young age – may be carrying one of these genes. That is why it is important for everyone to find out their family’s cancer history. It may be difficult to broach the subject with relatives, but talking about cancer among families has the power to prevent later problems, improve access to early treatment and raise awareness. Families with a high incidence of breast and ovarian cancers are one example. </p>
<p>In the 1990s, scientists discovered that germline mutations in the “BReast CAncer” genes (BRCA1 and BRCA2) caused familial breast and ovarian cancer. <a href="http://www.cancerresearchuk.org/cancer-help/type/breast-cancer/about/risks/breast-cancer-genes">We now know that</a> mutations in BRCA1 or 2 account for around 10% of all ovarian cancers. Women who carry a BRCA1 gene mutation have up to a 90% lifetime risk of getting breast cancer, and up to 60% risk of ovarian cancer. For BRCA2 the rates are 80% and 30% respectively. </p>
<p>Members of BRCA-mutation carrying families may have developed their cancers at a younger age than the general population (for example when they were under 40). These are usually on one side of the family and can occasionally affect male relatives (causing male breast cancer) also. The mutation is passed down in a Mandelian fashion, which means a parent (either father or mother) who carries the mutation has a 50% chance of passing it to their children. </p>
<p>Fathers may be unaffected clinically but act as carriers and can pass the mutation to their children. The cancer therefore may skip a generation. If a person has breast or ovarian cancer they can have genetic testing in the form of a blood test to see if they carry BRCA gene defects. If a BRCA mutation is identified, other relatives that could potentially have inherited the mutation can be offered tests. </p>
<p>So how does it help to know whether carry a mutation? If you carry a BRCA mutation, you can significantly reduce your risk of getting breast or ovarian cancer by having surgery to remove these organs or have screening for breast cancer for early diagnosis. For example, removal of both ovaries dramatically reduces the risk of developing ovarian cancer. Similarly, a mastectomy is effective in reducing the risk of breast cancer. Deciding whether or not to have these operations is difficult, but knowing one’s genetic status is useful in making an informed choice. </p>
<p>Everyone has a different perception of risk, so some will opt for screening while others prefer surgery. The choices may be wide ranging. If a young woman finds out she has BRCA gene mutation, she may decide to have children at a younger age so that she can have her ovaries and breasts removed afterwards. </p>
<p>Although BRCA gene mutation is much talked about and has had a lot of publicity recently, there are other genetic predispositions that are worth mentioning. For example Lynch Syndrome may be inherited and passed on in families and can result in significant increase in risk of bowel cancer, endometrial cancer and ovarian cancer. There may be effective screening or chemo-preventative measures that can be offered such as colonoscopy for bowel cancer or mammography for breast cancer or <a href="http://www.health.harvard.edu/blog/taking-aspirin-linked-to-lower-risk-of-colorectal-cancer-201307166473">use of aspirin</a> in reducing risk of bowel cancer. </p>
<p>But knowing your family history is vitally important and as ovarian cancer awareness month draws to a close, what better time to think about talking to parents and grandparents about your family tree. If a person knows they have a mutation in any of these genes, they have the choice to make informed decisions about their health and future. Most people don’t leave important things to chance, why should we leave our health to chance? When it comes to cancer risk within families, it is definitely good to talk.</p><img src="https://counter.theconversation.com/content/24868/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sadaf Ghaem-Maghami is interim Chair of the Scientific Advisory Committee of the Royal College of Obstetricians and Gynaecologists. She is a researcher in the Ovarian Cancer Action Research Centre at Imperial College London.</span></em></p>Most cancers happen by chance and there is no obvious inherited reason for them. However a small proportion of cancers occur as a result of a genetic predisposition because a gene passed down through generation…Sadaf Ghaem-Maghami, senior Lecturer and consultant in gynaecological oncology, Imperial College LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/165842013-08-05T04:32:34Z2013-08-05T04:32:34ZTool to predict women’s cancer risk could prompt lifestyle changes<figure><img src="https://images.theconversation.com/files/28530/original/6dz84zc8-1375408197.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The predictive tool might help women make decisions about changing their lifestyle.</span> <span class="attribution"><span class="source">Image from shutterstock.com</span></span></figcaption></figure><p>Researchers in the United States have <a href="http://www.plosmedicine.org/article/info%3Adoi%2F10.1371%2Fjournal.pmed.1001492">developed a new model</a> to predict women’s risk of developing breast, uterine and ovarian cancer, based on individual lifestyle factors. These three cancers make up one-third of all invasive cancers diagnosed among Australian women, with <a href="http://www.aihw.gov.au/acim-books/">more than 17,000</a> diagnosed each year. </p>
<p>While the prognosis for women who are diagnosed with these cancers is improving, due in part to earlier detection and more effective treatment, <a href="http://www.aihw.gov.au/acim-books/">nearly 4,000 Australian women</a> died due to one of these cancers in 2007. Added to this is the impact a cancer diagnosis has on quality of life and psychological well-being.</p>
<p>The ideal way of reducing the impact of cancer is to prevent the development of cancer in the first place. An estimated <a href="http://cancerforum.org.au/Issues/2012/March/Forum/Impact_future_cancer_incidence.htm">one-third of cancers</a> can be prevented through improvements in lifestyle behaviours, such as not smoking, reducing alcohol intake, increasing physical activity and having a more nutritious diet. </p>
<p>So, how does the new tool work, and how accurate is it likely to be?</p>
<h2>Assessing risk</h2>
<p>The researchers used the results of a <a href="http://dietandhealth.cancer.gov/">large study of almost 200,000 healthy women aged over 50 </a> to develop mathematical models that tries to estimate a woman’s risk of each type of cancer. They then analysed a <a href="http://www.ncbi.nlm.nih.gov/pubmed/21642681">separate cohort</a> of 64,440 initially healthy women aged 55 to see how the model performed.</p>
<p>The model is based on the combination of known risk factors a woman has, including body mass index, smoking status and level of alcohol consumption. It also takes into account other factors such as: </p>
<ul>
<li>age at birth of first child </li>
<li>number of children </li>
<li>family history of breast of ovarian cancer </li>
<li>age at menopause</li>
<li>the use of oral contraceptives and hormone replacement therapy. </li>
</ul>
<p>The magnitude and direction of these associations depend on the specific cancer. </p>
<p>The idea behind these models was that having an estimate of future risk would help women and their doctors make more informed decisions about cancer screening, prophylactic surgery, improving preventive behaviours, and use of specific medicines.</p>
<p>Although there have been previous risk factor models for breast cancer, this is the first study that has examined models for breast cancer, endometrial cancer and ovarian cancer from the one cohort.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/28564/original/2n4t2pqy-1375427403.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The new tool takes into account the age at birth of first child and number of children, which affect cancer risk.</span>
<span class="attribution"><span class="source">Image from shutterstock.com</span></span>
</figcaption>
</figure>
<p>There are two ways in which this tool could be used. First, the relative risk estimates show the impact each risk factor has on subsequent risk, and so could provide motivation of modify those risks. A woman who drinks at least one alcoholic drink per day has about a 25% greater risk of endometrial cancer than a teetotaller. So in terms of endometrial cancer risk, a woman is better off not drinking alcohol.</p>
<p>The second use is to estimate, based on a specific combination of risk factors, a woman’s risk (or probability) is of being diagnosed with one of these cancers in the next 20 years. These absolute estimates are <a href="http://www.qrisk.org/">often provided</a> through web-based dissemination tools, such as this one for cardiovascular disease. </p>
<p>At present, <a href="http://dceg.cancer.gov/tools/risk-assessment/br_en_oc_ram">it seems</a> the researchers of the tool have only made computer codes available for statistical software.</p>
<h2>The down sides</h2>
<p>The model has some shortcomings. These studies only include Caucasian women aged 50 years and over. So we cannot extrapolate the results to younger women, nor to women of other races or nationalities.</p>
<p>Also, the cohorts did not include all eligible women. The <a href="http://www.ncbi.nlm.nih.gov/pubmed/11744517">response rate</a> for the original study cohort, for example, was only 17.6% (approximately 570,000 out of 3.5 million people).</p>
<p>It is possible that the people who responded to the study had different characteristics to those who didn’t. They might have been healthier or more interested in health issues, both of which may impact on their risk of cancer and so on the final results.</p>
<p>The authors also acknowledge the models aren’t intended to predict the probability of the three cancers among women at much higher risk, such as those with the BRCA1 or BRCA2 mutations.</p>
<h2>How do the models perform?</h2>
<p>Performance is typically measured in two ways – calibration and discrimination.</p>
<p>Calibration measures how well the model, developed in the initial cohort, corresponds to the real outcome possibility: in this case, the observed proportion of cancer diagnoses in the second cohort.</p>
<p>In contrast, discrimination measures the ability of the model to predict a given outcome (that is, a cancer diagnosis) based on the combination of risk factors for a specific person.</p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=751&fit=crop&dpr=1 600w, https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=751&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=751&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=944&fit=crop&dpr=1 754w, https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=944&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/28565/original/d4zyqdsj-1375427720.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=944&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The model is only slightly better than tossing a coin at calculating the risk of breast and ovarian cancer for an individual woman.</span>
<span class="attribution"><span class="source">Image from shutterstock.com</span></span>
</figcaption>
</figure>
<p>In terms of calibration, the predictive risk model performed well. Although it over-estimated the overall risk of endometrial cancer by about 20%, the predicted risk for breast and ovarian cancers agreed closely with the observed risk.</p>
<p>Discrimination, however, was not so impressive. When considering that a value of 0.5 is analogous to tossing a coin, and 1.0 is perfect prediction, the discrimination values for breast cancer and ovarian cancer were 0.58 and 0.59 respectively. The predictive capacity for endometrial cancer was slightly better at 0.68.</p>
<h2>What these results mean in practice?</h2>
<p>These models provide important insights into the absolute burden of these cancers in a population of white women aged 50 years and over. It’s also useful in gauging the potential for how the population risk of cancer could be reduced using preventive interventions among this population.</p>
<p>But it’s not very effective at predicting individual woman’s risk of cancer. While the factors included in the statistical models explain some of the risk, there remain other unmeasured factors that dictate whether a woman will get one of these cancers. </p>
<p>This means that a woman might have none of the risk factors and still be diagnosed with breast cancer, or she might have all of the risk factors and not be diagnosed in the next 20 years. Given that there is still a lot to be learnt about the causes of most types of cancer, this conclusion is not really surprising.</p>
<p>The take-home message of this research is that there are measures by which women can reduce their risk of getting these types of cancer, and hopefully these results increase their motivation to do so.</p><img src="https://counter.theconversation.com/content/16584/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Peter Baade receives funding from the National Health and Medical Research Council (NHMRC).</span></em></p>Researchers in the United States have developed a new model to predict women’s risk of developing breast, uterine and ovarian cancer, based on individual lifestyle factors. These three cancers make up…Peter Baade, Senior Research Fellow, Cancer Council QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/144482013-05-21T04:55:31Z2013-05-21T04:55:31ZGreater access to genetic testing in NHS will help cancer fight<figure><img src="https://images.theconversation.com/files/24141/original/hjygs4zz-1369045929.jpg?ixlib=rb-1.1.0&rect=3%2C10%2C2358%2C1601&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Angelina Jolie's double mastectomy has sparked a series of reports about preventative surgery.</span> <span class="attribution"><span class="source">PA/Alastair Grant</span></span></figcaption></figure><p>Following Hollywood actress Angelina Jolie’s <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?hp&_r=1&">revelation last week</a> that she’d undergone a double mastectomy to prevent breast cancer, it has emerged that a 53-year-old man <a href="http://www.telegraph.co.uk/health/healthnews/10067019/Brit-becomes-first-in-world-to-have-prostate-removed-due-to-faulty-gene.html">had his prostate removed</a> after abnormal cells were discovered during <a href="http://clinicaltrials.gov/show/NCT00261456">a study into early cancer detection</a>.</p>
<p>We are becoming more aware about the role of genes that run in families and which increase the chances of getting cancer. <a href="https://theconversation.com/angelina-jolie-has-had-a-double-mastectomy-so-what-is-brca1-14227">BRCA1 and BRCA2 genes</a>, discovered in the 1990s, can increase the risk of breast and ovarian cancer if a person carries a mutation in one of them - also called a gene alteration. In invasive ovarian cancer, for example, around 10% of women carry a BRCA gene.</p>
<p>Breast cancer is <a href="http://www.guardian.co.uk/news/datablog/2013/may/14/breast-cancer-worldwide-uk">increasing across the UK</a> and affects around <a href="http://www.nhs.uk/Livewell/Breastcancer/Pages/Breastcancersymptoms.aspx">one in 10 women in England</a> during their lifetime. The majority of women who develop breast cancer do not carry a high risk gene. </p>
<p>Population-based studies have shown that <a href="http://www.ndsu.edu/pubweb/%7Emcclean/plsc431/students98/rivera.htm">around 5% of women with breast cancer</a> under the age of 50 carry a gene alteration in their BRCA1 or BRCA2 gene that increases their cancer risk; this <a href="http://www.macmillan.org.uk/Cancerinformation/Cancertypes/Breast/Aboutbreastcancer/Typesandrelatedconditions/Triplenegativebreastcancer.aspx">may be higher in certain groups</a>.</p>
<p>BRCA gene alterations are more frequent in certain ethnic groups, such as people of Ashkenazi Jewish and Polish ancestry. <a href="http://annonc.oxfordjournals.org/content/18/suppl_6/vi93.abstract">These groups have “founder mutations”</a>, thought to be inherited from a common ancestor. These are easier to find and test for. But in the majority of cases in the UK, genetic testing is more difficult as we need to look through the whole gene to find the fault.</p>
<p>Both men and women can carry BRCA gene alterations but the cancer risk is higher in women. The <a href="http://www.cancerresearchuk.org/cancer-help/type/breast-cancer/about/risks/breast-cancer-genes">risk of breast cancer with BRCA1 and BRCA2</a> is around 50-80% over a lifetime and around 10-40% for ovarian cancer. </p>
<p>There is also a link to risk in prostate cancer and male breast cancer. Male cancers are more strongly associated with BRCA2 and the man who underwent surgery to have his prostate removed was found to be carrying BRCA2 - recently <a href="http://jco.ascopubs.org/content/early/2013/04/08/JCO.2012.43.1882.short?rss=1">linked to more aggressive prostate cancer</a> - and had family members who had suffered from breast and prostate cancers. Men are also offered the choice of BRCA gene testing on the NHS if there’s a family risk, or a BRCA gene mutation is found in other family members.</p>
<h2>Who is offered BRCA1 and BRCA2 testing?</h2>
<p>Generally in the UK testing is only offered to a person affected with a BRCA-related cancer if they have a family history. If a significant genetic alteration is found then testing can also be offered to people in their wider family.</p>
<p>In about 10% of cases a “variant of uncertain significance” or VUS is found in the gene. VUSs are often difficult to interpret as they may be associated with the risk of cancer but we don’t have enough information to be certain. </p>
<p>Although Jolie urged <a href="http://www.guardian.co.uk/film/2013/may/19/angelina-jolie-cancer-row-genetic-technology">the price of testing in the US</a> to be reduced from more than $3000, the cost to the NHS in the UK is around £600 for testing both genes.</p>
<p>The Wellcome Trust has just announced £2.7m to test breast and ovarian cancer patients for nearly <a href="http://www.bbc.co.uk/news/health-22599402#?utm_source=feedly">100 risk genes from 2014</a>.</p>
<h2>What if you’re a carrier?</h2>
<p>Since 2006, the National Institute for Clinical Excellence has recommended <a href="https://www.google.co.uk/url?sa=t&rct=j&q=&esrc=s&source=web&cd=1&cad=rja&ved=0CCsQFjAA&url=http%3A%2F%2Fwww.nice.org.uk%2Fnicemedia%2Fpdf%2FCG41NICEguidance.pdf&ei=df2ZUeuNAc7M0AWkh4DQCA&usg=AFQjCNGMawsuXUVPEihfEjw7S91ppN9ITw&bvm=bv.46751780,d.d2k">offering annual MRI breast screening</a> for all female BRCA gene carriers between the age of 30 and 50, and annual mammograms from 40 onwards. </p>
<p>Breast screening does not prevent cancer, so some women choose to have <a href="http://www.macmillan.org.uk/Cancerinformation/Causesriskfactors/Genetics/Risk-reducingbreastsurgery/Risk-reducingbreastsurgery.aspx">risk-reducing mastectomies</a> along with reconstructive surgery, either using implants or tissue flaps, which is usually done at the same time as the mastectomies. </p>
<p>This service is available on the NHS to female BRCA gene carriers and can <a href="http://www.breastcancer.org/treatment/surgery/prophylactic_mast">reduce breast cancer risk by 90-95%</a>. </p>
<p>Several appointments are offered, including one with a clinical psychologist to discuss sexual and mental health issues, so that a woman can be certain surgery is the right choice for her. Around a third of female BRCA carriers in the UK are thought to choose to have breast surgery. It’s rare but sometimes an “occult” or hidden cancer is also discovered at the time of surgery.</p>
<p>Surgery can also be offered to prevent ovarian cancer by removing both ovaries and fallopian tubes - usually after a woman has had her family, so not before the age of 35. If this type of surgery is carried out before a woman is 45 it can also reduce her risk of getting breast cancer by a half. Up to 70% of female BRCA carriers opt for this kind of surgery.</p>
<p>Because BRCA2 <a href="http://www.bbc.co.uk/news/health-22065289">is linked with more aggressive prostate cancer</a>, it is likely that early prostate screening will be offered to these men so that removing the prostate can be carried out while the cancer is still at a very early stage. However, side effects can be serious, including infertility and possible permanent incontinence.</p>
<p>We still don’t know how far drugs can prevent cancer developing in BRCA gene carriers. Tamoxifen, for example, can help protect against breast cancers that respond to the female hormone oestrogen, but data on its use in BRCA carriers is limited. In BRCA1, the majority of cancers do not respond to oestrogen. </p>
<p>To complicate matters, the oral contraceptive pill protects against ovarian cancer but increases breast cancer risk.</p>
<h2>Wider testing likely on the NHS</h2>
<p>Testing for BRCA1 and BRCA2 is likely to become more widely available on the NHS. And more tests for other genes that could cause breast cancer may start to be offered too. Women who already have breast or ovarian cancer may not need a family history to be offered genetic testing. </p>
<p>As technology improves, we may offer testing more widely to unaffected women with a family history. We’ll also begin to understand more about the VUSs or uncertain variants in BRCA genes. In the case of television presenter Kirstie Allsop and her sister Sofie, for example, <a href="http://www.telegraph.co.uk/health/women_shealth/10065827/Kirsty-Allsopp-and-her-sister-speak-about-their-breast-cancer-dilemna.html">BRCA1 and BRCA2 weren’t found</a> but their history suggested a genetic cause for the cancers in their family.</p>
<p>The outlook for women with BRCA genes will improve, with greater access to genetic testing and screening and risk reducing surgery for women who have not yet developed cancer.</p><img src="https://counter.theconversation.com/content/14448/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Lucy Side receives grant funding from Cancer Research UK, looking at risk prediction for ovarian cancer at UCL's Institute for Women's Health, and Eve Appeal</span></em></p>Following Hollywood actress Angelina Jolie’s revelation last week that she’d undergone a double mastectomy to prevent breast cancer, it has emerged that a 53-year-old man had his prostate removed after…Lucy Side, Consultant Senior Lecturer in Clinical Genetics, UCLLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/142562013-05-16T20:06:55Z2013-05-16T20:06:55ZPanicking about breast cancer? Here’s what you need to know<figure><img src="https://images.theconversation.com/files/23947/original/tp7jgxrd-1368686268.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Angelina Jolie should be seen as a model for seeking information about her options and making a decision that best suited her.</span> <span class="attribution"><span class="source">EPA/Facundo Arrizabalaga</span></span></figcaption></figure><p>Angelina Jolie’s recent announcement about her double mastectomy likely caused many women to think about their own chance of developing breast cancer. But before you rush off to have a bunch of possibly unnecessary tests, take a deep breath and read on.</p>
<p>When celebrities such as Jolie and Kylie Minogue talk about their personal experiences, the statistics about breast cancer risk suddenly become very real. This seems to be particularly true when those celebrities are young women. </p>
<p>Media reports of Kylie Minogue’s breast cancer, for instance, <a href="https://www.mja.com.au/journal/2005/183/5/impact-news-celebrity-illness-breast-cancer-screening-kylie-minogues-breast">led to a 40% increase</a> in overall bookings for cancer screening within two weeks.</p>
<h2>“Faulty” genes and other risks</h2>
<p>In the <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=3&">New York Times op-ed</a> where Jolie made her surgery public, she spoke about the “faulty” gene that can cause both breast and ovarian cancer. The way these genes (BRCA1 and BRCA2) are sometimes described can be confusing because, usually, they help stop cancers from developing. </p>
<p>Everyone has two copies of BRCA1 and BRCA2. But, in some people, like Jolie, one of the copies has a fault and doesn’t work properly to prevent cancer. The result of inheriting a faulty copy of either BRCA1 or BRCA2 is a high risk of developing breast and ovarian cancer at younger ages than usual.</p>
<p>Even though all women have some risk of being diagnosed with breast cancer, most of us are not in Jolie’s situation. In fact, roughly ten out of every 11 women not carrying one of the gene mutations won’t ever develop breast cancer. </p>
<p>Most breast cancer is diagnosed in women older than 50. For this reason, and because breast cancer is one of the more common cancers, Australian women over 50 are encouraged to have a free mammogram every second year through the BreastScreen program.</p>
<p>We now know more about the factors that can increase breast cancer risk. Some of these can be changed, for example by drinking less alcohol and avoiding weight gain after menopause. Cancer Australia has an <a href="http://canceraustralia.gov.au/affected-cancer/cancer-types/breast-cancer/your-risk/calculate">online risk calculator</a> you can check out. </p>
<p>Family history also plays a large part, but breast cancer is quite common, so many people have a relative who has had it. </p>
<p>The <a href="http://canceraustralia.gov.au/sites/default/files/publications/nbocc-bog-2010-web-a4-printable_504af02a673fd.pdf">National Breast and Ovarian Cancer Centre</a> describes women who have not had breast cancer as being in one of three categories based on how many of their blood relatives on the same side of the family have had breast cancer and the age at which their cancer was diagnosed (as well as a few rarer features).</p>
<h2>What you need to do</h2>
<p>Media coverage of a celebrity’s experience, a friend’s revelation that she has cancer or turning the same age as a close relative when she was diagnosed can provoke quite a lot of anxiety about the illness. People respond in different ways to these feelings with some actively seeking testing and check-ups, while others avoid information for fear that it will make them feel worse. </p>
<p>What you need is good advice tailored to your own situation so you can avoid the harms from too many unnecessary tests or too few beneficial ones.</p>
<p>The first step is to have an initial assessment through a general practitioner or the Cancer Helpline (13 11 20). They will ask you questions about your family’s medical history and suggest the appropriate next step based on your level of risk. </p>
<p>Women with a high-risk family history can be referred to a <a href="http://www.genetics.edu.au/Genetics-Services/family-cancer-services">family cancer service</a>, where medical professionals and genetic counsellors provide specialised advice and information about inherited cancer risk, testing and management options. These services are in public hospitals so there’s no direct cost to the patient for a consultation.</p>
<p>About one in 1000 women has a faulty BRCA1 or BRCA2 gene. Testing to find an error in these genes is usually performed through a familial cancer service, either on women with breast or ovarian cancer and a high risk of having inherited cancer (rather than it occurring by chance alone). </p>
<p>The test, which is paid for by the service, costs approximately A$2500, but is very unlikely to be informative for other women. If a gene mutation is found in a woman with cancer, her relatives can be tested to see if they’ve inherited it too.</p>
<p>Although testing sounds straightforward, it can have a large impact on those undergoing it. And this impact is often not only on the person tested but also on her or his children, who – like Jolie’s biological children – may learn they have a risk of inheriting a tendency to develop breast or ovarian cancer. </p>
<p>Genetic counselling helps people prepare for the potential emotional and social consequences of testing and provides support as needed afterwards. Medical advice provides options to lessen the chance of developing breast and ovarian cancer, and for early detection.</p>
<h2>Choosing the right path</h2>
<p>Jolie said that surgery to reduce her risk was the right option for her. After discussion with their doctors, some women with BRCA mutations do choose to go down that path. But others prefer to have regular examinations and mammograms. </p>
<p>Some women at high risk are also eligible for screening by MRI. And hormone treatment with Tamoxifen is another option to reduce risk. </p>
<p>Each of these options has pros and cons that need consideration. Women with BRCA mutations also have a higher risk of ovarian cancer and are advised to have their ovaries and tubes removed (for example, around the age of 40) as there’s currently no effective way of detecting ovarian cancer early.</p>
<p>The decision to have surgery is a very personal one and should be made after full discussion with specialists. Risk management clinics provide this service to women with BRCA mutations. </p>
<p>Surgery and breast reconstruction is covered within the public hospital system in Australia when performed to reduce a high risk of breast cancer. But the majority of women do not have a risk high enough to warrant surgery.</p>
<p>Jolie finished her piece by saying that the challenges we can take control of shouldn’t scare us. Remember that control is as much about not pursuing unnecessary tests and procedures as it is about doing those that are beneficial. </p>
<p>Jolie clearly obtained information about her personal risks and options, and then made difficult decisions based on her own values and circumstances. It’s important to remember that her situation is a relatively uncommon one and many women wouldn’t need to make the same choice. </p>
<p>Instead of being blindly followed, Jolie should be seen as a model for having sought to better understand her risk, received medical help to become aware of her options and then made a decision that best suits herself and her family. </p>
<p>If you are worried about your risk of developing breast cancer, take the online risk assessment test or contact the cancer helpline, then seek guidance from your doctor.</p><img src="https://counter.theconversation.com/content/14256/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Clare Scott receives funding from Cancer Council Victoria and the Victorian Cancer Agency (Sir Edward Dunlop Cancer Research Fellowship). She is affiliated with Cancer Council Victoria, as well as The Royal Women's Hospital and The Royal Melbourne Hospital where she is a consultant medical oncologist.</span></em></p><p class="fine-print"><em><span>Clara Gaff does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Angelina Jolie’s recent announcement about her double mastectomy likely caused many women to think about their own chance of developing breast cancer. But before you rush off to have a bunch of possibly…Clara Gaff, Program Leader, Melbourne Genomics Health Alliance, Walter and Eliza Hall InstituteClare Scott, Medical Oncologist and Laboratory Head, Walter and Eliza Hall InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/142272013-05-14T08:31:49Z2013-05-14T08:31:49ZAngelina Jolie has had a double mastectomy, so what is BRCA1?<figure><img src="https://images.theconversation.com/files/23716/original/7ykqwt8b-1368515629.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">American actress Angelina Jolie has had a double mastectomy because she carries the faulty gene BRCA1.</span> <span class="attribution"><span class="source">EPA/FACUNDO ARRIZABALAGA</span></span></figcaption></figure><p>Actress Angelina Jolie’s <a href="http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=2&">op-ed in the New York Times</a> explained that she opted to have a double mastectomy because she carries the hereditary BRCA1 gene, which she says increases her risk of breast cancer by 87%. Her mother died from cancer after a ten-year struggle at the age of 56.</p>
<p>We asked an expert in breast cancer and genetics to explain more about the breast cancer genetic mutation and what it means for women.</p>
<hr>
<p><strong>What are the BRCA1 (and BRCA2) gene mutations?</strong></p>
<p>BRCA1 and BRCA2 are genes that have been linked to hereditary breast and ovarian cancer. Women who inherit one of these faulty genes are at an increased risk of breast or ovarian cancer. Men who inherit a faulty gene may be at increased risk of prostate cancer. Breast cancer in men carrying BRCA2 has also been described in the medical literature.</p>
<p>These genes are important in helping repair breaks in the DNA in our cells, so a faulty gene can mean that DNA repair is less than optimal. In some people this can lead to the development of cancer.</p>
<p><strong>Should I be getting tested for them?</strong></p>
<p>Not routinely. In general terms, genetic testing should be carried out following counselling in a familial cancer centre after a proper assessment of risk. </p>
<p>Testing is offered to people who have developed breast or ovarian cancer where there are features that might suggest a mutation is present. </p>
<p>These can include an early age of onset of cancer, or cancer in both breasts, multiple cancers in the family, male breast cancer, ovarian cancer, certain ancestry (such eastern European Jewish ancestry), or where there is a known mutation in the family. </p>
<p>Sometimes the appearance of a tumour, reported by the pathologist can help make a decision regarding whether testing is necessary.</p>
<p><strong>How are they tested for?</strong></p>
<p>This is generally done through a blood sample.</p>
<p><strong>What is the cost of the test/s and why?</strong></p>
<p>At present testing for these genes in is expensive – but costs are coming down. </p>
<p>Once a mutation has been identified in a family member, other members can be tested and this is much cheaper. </p>
<p><strong>How many people are affected?</strong></p>
<p>About 5% of all breast cancers are hereditary, and can involve the BRCA1 or BRCA2 gene. That is why it is important to look for special features that suggest risk. </p>
<p>In our community the risk of carrying a gene is relatively rare at about 1:800 for each of the mutations.</p>
<p><strong>Say I have the gene/s, what is the likelihood that I will develop (a) breast cancer and (b) ovarian cancer?</strong></p>
<p>Having the gene does not mean that a woman will definitely develop either of the cancers. </p>
<p>The risk is believed to be on average somewhere between 40% and 65% for breast and 15% to 40% for ovary, depending on the gene.</p>
<p>In her op-ed, Angelina Jolie said her risk of developing breast cancer was 87% and that she had a 50% risk of developing ovarian cancer. This is because the risk for BRCA1 carriers can be higher than for BRCA2 carriers. </p>
<p>Jolie has reported the upper end of risk for breast cancer that was first described when the gene was discovered. Looking at the general population, the risk is probably less, but for some families with very striking family histories, it could be this high.</p>
<p><strong>What are the treatment options?</strong></p>
<p><em>If</em> a cancer develops, it is often treated in a very similar fashion to other breast or ovarian cancers. </p>
<p>For breast cancer, sometimes women might consider more extensive surgery (such as mastectomies). There are new drugs called PARP inhibitors that are being developed tested for BRCA-associated cancers.</p>
<p><strong>What are the prevention options?</strong> </p>
<p>There are a number of options. For breast cancer, this includes close monitoring which includes MRI scans and mammograms starting at a suitable age. </p>
<p>Breast cancer prevention drugs such as Tamoxifen are likely to be helpful and may even halve the risk of getting breast cancer. </p>
<p>Some women may consider mastectomy with breast reconstruction. The uptake of this option differs fro.</p>
<p>Importantly, due to the potential risk of ovarian cancer some women will be advised to have their fallopian tubes and ovaries removed at a suitable age (and after they have had children). </p>
<p>If this is carried out at age 40, it can halve breast cancer risk. It is known to be safe to give women hormone replacement therapy in most cases, so that they don’t experience menopausal symptoms.</p>
<p><strong>What are the side-effects of mastectomies, if any?</strong></p>
<p>These are generally minimal. In the short term, there can be surgical risks of infection and bleeding and, of course, cosmetic results (breast reconstruction) may differ. </p>
<p><strong>What are the chances of survival for preventative measures vs treatment options?</strong></p>
<p>The chances of survival for preventative measures are excellent and the risk of breast cancer is very substantially reduced. Since screening can detect cancer early, this helps improve outcomes. </p>
<p>Treatment for breast cancer has substantially improved over the last two decades, including for BRCA1 and BRCA2-associated cancers, so with proper treatment of early cancers, the outlook can be very good.</p><img src="https://counter.theconversation.com/content/14227/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Geoff Lindeman receives funding from NHMRC and the Victorian State Government and the National Breast Cancer Foundation.</span></em></p>Actress Angelina Jolie’s op-ed in the New York Times explained that she opted to have a double mastectomy because she carries the hereditary BRCA1 gene, which she says increases her risk of breast cancer…Geoff Lindeman, Professor of Oncology, Head of the RMH Familial Cancer Centre and Joint Head, Breast Cancer Laboratory, Walter and Eliza Hall InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/122402013-02-16T05:15:07Z2013-02-16T05:15:07ZGene patenting: Australian court rules BRCA1 patent is legal<figure><img src="https://images.theconversation.com/files/20320/original/h6r8nkdh-1360991583.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The BRCA1 gene is thought to account for 45% of hereditary breast cancer, and at least 80% of hereditary cancer involving both breast and ovarian cancers.</span> <span class="attribution"><span class="source">Tips Times</span></span></figcaption></figure><p>“The issue that arises in this case is of considerable importance. It relates to the patentability of genes, or gene sequences, and the practice of gene patenting”. So began the reasons for judgement of the Federal Court of Australia in <a href="http://www.judgments.fedcourt.gov.au/judgments/Judgments/fca/single/2013/2013fca0065"><strong>Cancer Voices Australia v Myriad Genetics Inc</strong></a>, published on Friday.</p>
<p>This is the first Australian court decision on the patentability of isolated <a href="http://en.wikipedia.org/wiki/Dna">DNA</a> or <a href="http://en.wikipedia.org/wiki/Rna">RNA</a> sequences. Myriad Genetics, claiming a patent related to the <a href="http://en.wikipedia.org/wiki/Brca1">BRCA1</a> gene, won the case and the challenge to their patent was dismissed. </p>
<p>Three things will help understanding why.</p>
<h2>What is BRCA1?</h2>
<p>It’s a human breast and ovarian cancer-disposing gene. According to the disputed patent, mutation of the BRCA1 gene is thought to account for 45% of hereditary breast cancer, and at least 80% of hereditary cancer involving both breast and ovarian cancers.</p>
<h2>Can genes as such be patented?</h2>
<p>No. Patents cannot be granted for products of nature. There’s no doubt that naturally occurring DNA and RNA as they exist inside the cells of the human body cannot be the subject of a valid patent.</p>
<h2>Was this particular patent valid?</h2>
<p>This was the core of the debate. <a href="http://www.myriad.com/">Myriad Genetics</a> argued that its patent related to isolated DNA and RNA, extracted from cells removed from human body and purged of other biological material with which it is associated in the cell. </p>
<p><a href="http://www.cancervoicesaustralia.org/">Cancer Voices Australia</a> argued that there’s no significant or material difference between nucleic acid in its natural and isolated states. Scientific experts gave evidence on these issues, to assist the court.</p>
<h2>Key question</h2>
<p>In analysing the competing arguments, the Court said that a composition of matter may be patentable if it consists of an artificial state of affairs, with some discernible effect, of economic utility and the result of some human intervention. </p>
<p>The Judge said:</p>
<blockquote>
<p>The real problem lies in knowing, or rather not knowing, what degree of human intervention is necessary before it can be concluded that the requisite artificial state of affairs exists. It is an especially difficult problem in the present case, not so much because the authorities provide no clear solution to it, but because the problem has an almost metaphysical dimension to it.</p>
</blockquote>
<h2>The outcome</h2>
<p>Ultimately, the court decided that there was the necessary artificial state of affairs, explaining:</p>
<ul>
<li><p>earlier cases binding on the court regarding similar issues had used expansive language,</p></li>
<li><p>in the absence of human intervention, naturally occurring nucleic acid does not exist outside the cell, and isolated nucleic acid does not exist inside the cell, and</p></li>
<li><p>it would lead to very odd results if a person whose skill and effort culminated in the isolation of an DNA sequence could not be independently rewarded by the grant of a patent.</p></li>
</ul>
<h2>An appeal</h2>
<p>The Australian judicial system is transparent and reviewable. Transparent, so anyone can freely access online the full reasons for judgement in <a href="http://www.judgments.fedcourt.gov.au/judgments/Judgments/fca/single/2013/2013fca0065">Cancer Voices Australia v Myriad Genetics Inc</a>. Reviewable, so dissatisfaction with the outcome may be tested in an appeal from the decision - perhaps even two appeals, should the issues warrant determination by the High Court.</p>
<h2>Changes to the law</h2>
<p>The <a href="http://www.austlii.edu.au/au/legis/cth/consol_act/pa1990109/">Patents Act</a> is crafted by the Australian parliament. Should it wish, the parliament may amend the legislation to provide a different balance between private and public rights. Reform in this area has been considered in the past. </p>
<p>In its report <a href="http://www.alrc.gov.au/publications/report-99">Genes and Ingenuity: Gene Patenting and Human Health</a>, the <a href="http://www.alrc.gov.au/">Australian Law Reform Commission</a> recognised that concerns could be raised in relation to patents for isolated biological materials. </p>
<p>The <a href="http://www.alrc.gov.au/news-media/2011/government-response-alrcs-2004-report-genes-and-ingenuity-gene-patenting-and-human-h">Australian government’s 2011 response</a> accepted the recommendation that the legislation not be amended to exclude genetic materials and technologies from patentable subject matter, though some <a href="http://www.austlii.edu.au/au/legis/cth/num_act/iplatba2012517/">other amendments</a> to intellectual property laws have recently been made.</p>
<h2>What next?</h2>
<p>Similar arguments about gene patients are soon to be considered by courts elsewhere. <a href="http://edition.cnn.com/2013/02/15/world/asia/australia-breast-cancer-gene-patent/index.html">CNN quickly reported</a> the recent Australian decision, noting that that the same gene, along with <a href="http://en.wikipedia.org/wiki/BRCA2">BRCA2</a>, is at the centre of a high-profile lawsuit set to be heard by the United States Supreme Court in April of this year.</p>
<p>The frontier of genetic medical research seems likely to remain on the Australian and international judicial and parliamentary agenda for some time to come.</p><img src="https://counter.theconversation.com/content/12240/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Bill Madden is also a lawyer in private practice with Slater & Gordon Limited, however that firm was not involved in the litigation referred to in this article.</span></em></p>“The issue that arises in this case is of considerable importance. It relates to the patentability of genes, or gene sequences, and the practice of gene patenting”. So began the reasons for judgement of…Bill Madden, Adjunct Fellow, Western Sydney UniversityLicensed as Creative Commons – attribution, no derivatives.