Study: Genetic Testing for Ashkenazi Jews

Posted on: September 10, 2014

Study: Ashkenazi Jewish Descent as a Criterion for Genetic Testing
by Nancy Cohen, MS, CGC

Nancy Cohen Genetic Counselor WestchesterA new study, Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2 (abstract available in PubMed), suggests that population screening of Ashkenazi Jews for BRCA mutations may be beneficial because the cancer risks of those without a family history suggestive of a BRCA gene mutation were shown to be very similar cancer risks to those with such a history.

Since 2.5% of Ashkenazi Jews harbor BRCA mutations, and increased cancer surveillance and cancer risk reduction have been shown to improve outcomes for mutation carriers, such screening may have a useful role in this population. It will be interesting to see whether or not the guidelines from the NCCN will be adjsted to reflect this study.

Interestingly, Mary-Claire King, who was instrumental in the discovery in the BRCA1 gene, has suggested (JAMA. 2014 Sep 8) that not only Ashkenazi Jewish women be offered BRCA testing but that population screening for BRCA (and ultimately other genes) be made available to all women age 30 and over.

Of course, anyone who has concerns regarding their risk factors for a hereditary cancer syndrome risk or this study is welcome to make an appointment for genetic counseling to review their personal and family history in greater detail.

Nancy Cohen, MS, CGC
Certified Genetic Counselor
Northern Westchester Hospital
Cancer Treatment and Wellness Center

Editor’s Note:  Find New York Times article : Study of Jewish Women Shows Link to Cancer Without Family History