{"id":3988,"date":"2019-04-09T16:00:00","date_gmt":"2019-04-09T16:00:00","guid":{"rendered":"https:\/\/www.cancer.gov\/news-events\/cancer-currents-blog\/2019\/ovarian-breast-cancer-testing-inherited-genetic-mutations"},"modified":"2024-11-03T15:17:14","modified_gmt":"2024-11-03T15:17:14","slug":"fewer-women-with-ovarian-breast-cancer-undergo-genetic-testing-than-expected","status":"publish","type":"post","link":"https:\/\/ogkologos.com\/en\/fewer-women-with-ovarian-breast-cancer-undergo-genetic-testing-than-expected\/","title":{"rendered":"Fewer Women with Ovarian, Breast Cancer Undergo Genetic Testing than Expected"},"content":{"rendered":"

April 9, 2019, by NCI Staff<\/p>\n

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Many women diagnosed with ovarian and breast cancers are not receiving tests for inherited genetic mutations, according to a new study.<\/span><\/p>\n

Credit: iStock<\/p>\n<\/div>\n<\/figcaption><\/figure>\n

Tests for inherited genetic mutations can provide women diagnosed with ovarian or breast cancer with important information that can have implications for family members and potentially guide treatment decisions and longer-term screening for second cancers. However, many women with ovarian and breast cancers are not receiving these genetic tests, a new study suggests.<\/p>\n

An NCI-funded analysis of data on more than 83,000 women from large cancer registries in California and Georgia found that, in 2013 and 2014, only about one-quarter of women with breast cancer and one-third of women with ovarian cancer underwent testing for known harmful variants in breast and ovarian cancer susceptibility genes.<\/p>\n

The study also found that among patients who did receive genetic testing<\/a>, 8% of breast cancer patients and 15% of ovarian cancer patients had \u201cactionable\u201d gene variants, meaning variants that might warrant changes in treatment, screening, and risk-reduction strategies.<\/p>\n

The findings, published April 9, 2019, in the Journal of Clinical Oncology<\/em>, were surprising, especially the low rate of testing among women with ovarian cancer<\/a>, said lead author Allison Kurian, M.D., M.Sc., of Stanford University School of Medicine.<\/p>\n

\u201cGenetic testing has become quite cheap and accessible, and this study includes a time period when it was becoming much cheaper, so it\u2019s striking that we still see low rates of testing,\u201d Dr. Kurian said. \u201cI think that suggests that there are most likely other barriers outside of cost.\u201d<\/p>\n

The study also revealed racial and socioeconomic disparities in testing rates among women diagnosed with ovarian cancer. Genetic testing rates were far lower for black women than for white women, and they were also lower for uninsured patients than for insured patients.<\/p>\n

\u201cThese findings have uncovered a [disparities] gap that is much more substantial than I would have thought,\u201d Dr. Kurian said.<\/p>\n

Reasons and Recommendations for Genetic Testing<\/h2>\n

About 15% of ovarian cancers are caused by inherited mutations, and several medical organizations recommend that all women diagnosed with ovarian cancer receive genetic testing.<\/p>\n

For women with breast cancer, the recommendations for genetic counseling<\/a> and testing are generally more limited, typically relying on factors such as age at cancer diagnosis and family history<\/a>. However, some organizations, including the American Society of Breast Surgeons<\/span>, recommend that genetic testing be made available to all women diagnosed with breast cancer.<\/p>\n

There are many reasons why women with ovarian and breast cancer would get tested, Dr. Kurian explained.<\/p>\n

\u201cWe know that if patients have a specific inherited gene mutation, they will likely have more benefit from a new class of drugs called PARP<\/a> inhibitors,\u201d she said.<\/p>\n

The Food and Drug Administration has approved three PARP inhibitors for BRCA1<\/a>–\u00a0<\/em>and BRCA2<\/a><\/em>-associated ovarian cancer and two for BRCA1\/2<\/em>-associated metastatic breast cancer. Harmful variants of both BRCA1<\/em> and BRCA2<\/em> are known to increase the risk of breast and ovarian cancer, as well as of several other types of cancer.<\/p>\n

\u201cAnother reason to get tested is that patients with a genetic mutation that is associated with breast or ovarian cancer may be at higher risk of a second cancer, so you don\u2019t want to miss a second cancer that could be a problem,\u201d Dr. Kurian said.<\/p>\n

\u201cThe findings could also be life-saving information for a patient\u2019s relatives. If you find that she carries a mutation, every first-degree relative, male or female, has a 50% chance of having the same mutation,\u201d she said.<\/p>\n

Testing, then, could allow for enhanced screening and prevention for family members who are carriers, she explained.<\/p>\n

A \u201cBaseline\u201d Population-Based Genetic Testing Study<\/h2>\n

The study included all women older than age 20 who were diagnosed with breast or ovarian cancer in California and Georgia from 2013\u20132014 and whose data were reported to NCI\u2019s Surveillance, Epidemiology and End Results (SEER) registries<\/a><\/span>. There were 77,085 patients with breast cancer and 6,001 with ovarian cancer. The registry data were linked to results from four laboratories that performed nearly all the genetic testing for inherited, or germline, mutations in these states during the study period.<\/p>\n

According to the authors, this is the first population study<\/span> of hereditary cancer genetic testing in the United States with laboratory-confirmed testing results.<\/p>\n

\u201cWe\u2019ve never had this kind of linkage available before, giving us a baseline to let us know if the standard of care<\/a> [for testing] was being followed,\u201d said study coauthor Lynne Penberthy, M.D., M.P.H., associate director for NCI\u2019s Surveillance Research Program<\/a><\/span>. \u201cThat\u2019s why this is really important. These data can be used to see where we are and where we\u2019re going. We can continue to provide this information, so people can see, hopefully, an increase in the appropriate use of genetic testing over time.\u201d<\/p>\n

Linking the SEER registry data to the testing data in this study provides \u201creally objective data about the massive undertesting of ovarian cancer patients,\u201d said Susan Domchek, M.D., executive director of the Basser Center for BRCA at the University of Pennsylvania Abramson Cancer Center, who was not involved in the study.<\/p>\n

\u201cTesting is recommended for all patients with ovarian cancer,\u201d she added, so the fact that only one-third of these patients had it done in this time period \u201cis a clear-cut example that we\u2019re not testing ovarian cancer patients the way that we should be.\u201d<\/p>\n

Unexpected Disparities and Low Testing Rates<\/h2>\n

While large racial and socioeconomic disparities in testing rates were not observed among women with breast cancer, among women with ovarian cancer, testing rates were far lower in black women than white women (21.6% versus 33.8%) and in uninsured women than insured women (20.8% versus 35.3%).<\/p>\n

Understanding why genetic testing rates are so low in women with ovarian cancer and why racial and socioeconomic disparities in testing exist among women with the disease is tricky, Dr. Kurian said.<\/p>\n

\u201cTesting in ovarian cancer has not been widely studied before\u2014definitely not at the population level\u2014and not in such a diverse population,\u201d she added, \u201cso there\u2019s a lot we don\u2019t know about barriers.\u201d<\/p>\n

For example, she said, it\u2019s unclear whether genetic testing is on the radar screen of doctors treating patients with ovarian cancer as much as it is for patients with breast cancer. Dr. Domchek said there could also be misconceptions among patients about the costs of genetic testing.<\/p>\n

\u201cBut if access to genetic counseling or information on testing is difficult, clearing up these misconceptions can be a challenge,\u201d she said. \u201cSo, trying to figure out how to better streamline [counseling and education] into practice to make sure all of these individuals with ovarian cancer get tested is a subject of ongoing research.\u201d<\/p>\n

Dr. Domchek noted that NCI is looking to fund studies<\/a><\/span> that offer genetic testing to women with a personal or family history of ovarian cancer to see if it can help to identify members of their families who may be at increased cancer risk.<\/p>\n

More Than BRCA<\/em><\/h2>\n

Although variants in the BRCA1<\/em> and BRCA2<\/em> genes were the most frequently found in the study, the laboratories also looked for other inherited cancer-related genetic mutations using tests known as multigene panels.<\/p>\n

The results provide \u201can understanding, on a broader scale, of how common these mutations are,\u201d Dr. Kurian said.<\/p>\n

The multigene panel testing led to other noteworthy findings, Dr. Penberthy said.<\/p>\n

\u201cWhat was really interesting was that while BRCA1<\/em> and BRCA2<\/em> were the most common germline mutations that we found in the study, there were other mutations that were not uncommon and that were actionable in terms of treatment as well,\u201d she explained.<\/p>\n

For example, 60 women with breast cancer in the study had a mutation in the CDH1<\/em>, PALB2<\/em>, or PTEN<\/a><\/em> genes. These mutations are associated with a substantially increased breast cancer risk, Dr. Kurian said, so women who have these mutations may consider having both breasts removed (a risk-reducing bilateral mastectomy), rather than just the breast in which the tumor was found.<\/p>\n

And widely used clinical guidelines recommend that women with breast cancer who have certain inherited genetic mutations,\u00a0including in genes such as ATM<\/em> and CHEK2,\u00a0<\/em>undergo more intensive screening for second cancers. In the study, mutations in ATM<\/em> and CHEK2<\/em> were found in 0.7% and 1.6% of women with breast cancer, respectively.<\/p>\n

Mutations in CHEK2<\/em> and PALB2<\/em>\u00a0and several other genes were found both in women with breast cancer and women with ovarian cancer. Studies haven\u2019t yet linked these genes with increased ovarian cancer risk, so further study is warranted, the authors wrote.<\/p>\n

However, the key message from this study is the undertesting of ovarian cancer patients, who clearly need it, Dr. Domchek said.<\/p>\n

\u201cIt\u2019s not to say we shouldn\u2019t debate population screening [for inherited mutations], or which genes to test for, and how we\u2019re going to do it,\u201d she said. \u201cBut first, for heaven\u2019s sake, let\u2019s test the people who absolutely need testing, not only because it impacts family members, but also because now we have first-line therapy with PARP inhibitors<\/a><\/span>. Every woman with ovarian cancer should know her BRCA1<\/em> or BRCA2<\/em> status.\u201d<\/p>\n

Source<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

April 9, 2019, by NCI Staff Many women diagnosed with ovarian and breast cancers are not receiving tests for inherited genetic mutations, according to a new study. Credit: iStock Tests for inherited genetic mutations can provide women diagnosed with ovarian or breast cancer with important information that can have implications for family members and potentially […]<\/p>\n","protected":false},"author":2,"featured_media":3989,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"footnotes":""},"categories":[5137],"tags":[],"class_list":["post-3988","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-world-news"],"_links":{"self":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/3988","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/comments?post=3988"}],"version-history":[{"count":1,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/3988\/revisions"}],"predecessor-version":[{"id":44540,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/3988\/revisions\/44540"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/media\/3989"}],"wp:attachment":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/media?parent=3988"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/categories?post=3988"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/tags?post=3988"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}