Abstract
Whether all adult Ashkenazi women should be offered population screening for recurrent [...]
Highlights
By 2003, many, many additional studies had been conducted
The U.S Preventive Services Task Force gave a grade of “D” to BRCA1/2 testing in the absence of family history, it did not provide a specific recommendation on founder mutation screening in Ashkenazi women[8]
The investigators report that 100% of the women who tested positive underwent breast magnetic resonance imaging in the subsequent year, and 90% underwent prophylactic oophorectomy within 2 years
Summary
By 2003, many, many additional studies had been conducted. One study of note was the New York Breast Cancer Study, which reported that 10% of 1008 unselected Ashkenazi Jewish breast cancer patients carried a BRCA1/2 founder mutation[3]. In 2008, the American College of Medical Genetics declined to include BRCA1/2 testing in their recommendations for reproductive screening of the Ashkenazi Jewish population, offering doubts similar to those from 1997: “the penetrance of these mutations is not fully understood and adequate laboratory and clinical resources for performing the testing and genetic counseling are not currently available. To further address those concerns, Levy-Lahad and colleagues went on to complete a multi-year study of cancer risk in the Israeli Ashkenazi population starting with 8105 unselected Jewish men[6].
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