Up until last week, Ashkenazi Jewish women who had relatives with breast or ovarian cancer were told to be tested for the BRCA1 and BRCA2 genetic mutations. These (BR)east (CA)ncer markers can highly predict the development of deadly cancers in women.

But the results of a new study recommends that ALL Jewish women of Ashkenazi heritage be tested for the genes, even if no member of their family has developed the cancer.

Dr. Ephrat Levy-Lahad, the director of the Medical Genetics Institute at Shaare Zedek Medical Center in Jerusalem and the senior author of the study, published in the Proceedings of the National Academy of Sciences, said that Jewish women should be universally screened for the genetic mutation. Her studies were funded in part by the Breast Cancer Research Foundation.

According to the study, among Ashkenazi Jewish women residing in Israel, 11% of breast cancer and 40% of ovarian cancer illnesses are due to three inherited mutations: genes BRCA1 and BRCA2. They found the genes among women who had no family histories of cancer. In the study female relatives of the gene mutation carriers were enrolled in the study and genotyped. Among the female relatives with BRCA1 or BRCA2 mutations, cumulative risk of developing either breast or ovarian cancer by age 60 and 80, respectively, were 60% (± 0.07) and 83% (± 0.07) for BRCA1 carriers and 33% (± 0.09) and 76% (± 0.13) for BRCA2 carriers. Risks were higher in recent vs. earlier birth cohorts. Therefore general screening would identify many carriers who are not evaluated by genetic testing based on family history criteria.

Their study offered the genetic testing to over 8,000 cancer-free Ashkenazi Jewish MEN 30 and older, eventually identifying 175 who carried one of three harmful BRCA1 and BRCA2 mutations. The researchers then asked the female relatives of the 175 male mutation carriers to be tested. They found 211 women who were carriers of the cancer-causing genes. About 48% had little or no family history of breast or ovarian cancer.

Many of the Israeli women that the research project identified had no idea they were at risk.

Dr. Levy-Lahad asked “Would you rather find out about it when you get ovarian cancer at 45, or when you’re 30 and you’re healthy and can prevent it?”

Over the past week since the study was released, some physicians were skeptical. For example, the (male led) United States Preventive Services Task Force recommends against routine genetic counseling or BRCA testing for women whose family history does NOT indicate a risk of harmful mutations. Dr. J. Leonard Lichtenfeld, the American Cancer Society’s deputy chief medical officer, said that the study was “thought provoking” but that routine screening for BRCA mutations had “not been on the table” in the United States and would have to be discussed extensively and in great detail. (Len is not a fan of unnecessary screening. A few years ago, I recall that a nodule was found on his lung, and he did not screen it further, since he thought the radiation from CT scans were more dangerous than a most likely benign growth on his lung)

For more information, contact your physician, make them aware of the study, and weigh your options

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