Should All Women Be Screened for BRCA1 and BRCA2 Mutations?

The U.S. Preventive Services Task Force recommends against routine genetic counseling or BRCA testing in women whose family histories are not associated with excess risk for BRCA mutations. Dr. Mary-Claire King, Lasker-Koshland Award–winning discoverer of the BRCA1 mutation, makes the case for universal screening of women in their 30s, positing that population-based screening would lower mortality from ovarian and breast cancer. One concern regarding universal screening is that, unlike mutation carriers with foreboding family or personal cancer histories, the clinical implications of mutation carrier status without such histories are uncertain.

In a JAMA Viewpoint, Dr. King and coauthors discuss their recent study in which healthy Ashkenazi Jewish men were screened (Proc Natl Acad Sci U S A Sep 8 2014 [e-pub ahead of print]). Female relatives of male mutation carriers who were also identified as being BRCA1 mutation carriers had a 60% and 83% risk for breast and/or ovarian cancer by age 60 and 80, respectively. Based on other data, the authors point out that 50% of families with BRCA1 or 2 mutations have no ominous histories of breast or ovarian cancer, and that female mutation carriers within such families have cancer risks similar to those seen in carriers from families with numerous affected relatives.