Should All Ashkenazi Women Get Tested for BRCA Gene Mutations?

Posted By on September 13, 2014

New Study Says Yes Experts Are Divided

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Life-Saving Screening: A radiology technician examines a mammography test.

No family history of cancer? Get tested anyway suggests a recently-published study, but medical experts are deeply divided.

The study indicates that even Ashkenazi women with no family history of the disease but who test positive for a cancer-causing genetic mutation have high rates of breast and ovarian cancer.

At the heart of the dispute is the question of whether all women of Ashkenazi Jewish descent should now get genetic testing to determine if they have the mutations of the BRCA1 or BRCA2 gene. And, if they do get tested, what should they do if the results show mutations?

Ashkenazim are at a particularly high risk for these mutations: One in 40 carries a BRCA mutation as compared to one in 345 in the general population. But until now, the United States Preventive Services Task Force has recommended against routine genetic counseling or BRCA testing for women who had no family history of cancer.

Citing their findings, published September 5 on the website of the Proceedings of the National Academy of Sciences, the studys authors recommended routine screening of all women of Ashkenazi backgrounds for harmful mutations in the BRCA genes. Some prominent experts agree.

I think it is going to be a game changer, said Dr. Harry Ostrer, a noted geneticist at the Albert Einstein College of Medicine, in New York, referring to the study results. I think it puts the U.S. Preventive Services Task Force on notice.

Ostrer said he had just returned from a bar mitzvah, where the study was making waves. People were walking up to me and saying, Gee, I want to be tested. How do I do that? he said.

Originally posted here:

Should All Ashkenazi Women Get Tested for BRCA Gene Mutations?

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