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All Ashkenazi Jewish Women Should be Tested for BRCA

[additional-authors]
September 12, 2014

Mutations in two genes called BRCA1 and BRCA2 greatly increase the risk of breast and ovarian cancer. Last year I wrote about ” target=”_blank”>A study carried out in Israel and published this month in the Proceedings of the National Academy of Sciences sought to answer this question in an ingenious way. The study enrolled about 8,000 Israeli Ashkenazi men without a history of cancer and tested them for BRCA mutations. 175 of them were found to carry harmful BRCA mutations. The first degree female relatives of these 175 men (their mothers, sisters and daughters) were invited to undergo BRCA testing. This identified 211 female BRCA mutation carriers, many of whom had no family history of breast cancer. By studying the medical histories of the identified female mutation carriers, their risk of ovarian and breast cancer was calculated.

The results showed that a woman with a BRCA1 mutation has an 83% risk of developing breast or ovarian cancer by age 80. BRCA2 mutation carriers have a 76% risk of breast or ovarian cancer by age 80. These numbers are very similar to those from studies that only counted women with strong family histories of cancer. That means that a family history is not necessary to identify women who benefit from screening, and suggests that all Ashkenazi Jewish women should be tested for BRCA mutations.

National groups that evaluate scientific data and make testing recommendations like the American Cancer Society and the US Preventive Services Task Force haven’t had a chance to digest the news yet. They still recommend BRCA testing only for women with strong family histories of breast and ovarian cancer.

A medical geneticist I spoke with said that BRCA testing costs about $400 and is generally not covered by insurance. If you’d like to pursue testing, the first step is asking your doctor to refer you to a medical geneticist for pre-testing counseling.

Population screening for specific genetic diseases, like Tay-Sachs, has proven in the past to make enormous reductions in the societal burden of disease. Screening all Ashkenazi Jewish women for BRCA holds out the promise of similar gains against breast and ovarian cancer.

Learn more:

” target=”_blank”>Israeli research team: Screen all Ashkenazi-Jewish women for BRCA mutations (The Jerusalem Post)
” target=”_blank”>Understanding Angelina (My post from 2013 explaining the BRCA testing recommendations at that time)

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