Among women age 40 years or younger, rates of genetic testing for BRCA1 and BRCA2 mutations have increased, according to a recent study. These results align with National Comprehensive Cancer Network guidelines, which recommend that all women younger than 50 years with breast cancer should be offered counseling and genetic testing.1

In women younger than 40 years in the United States, breast cancer is the most commonly diagnosed cancer. BRCA1 and BRCA2 mutation carriers are at increased risk of developing early onset breast cancer. So, BRCA genetic risk influences treatment decisions after a breast cancer diagnosis.

This study, published in JAMA Oncology, examined data from 897 women 40 years or younger with breast cancer diagnosed at 11 different academic and community medical centers. The data were collected from 2006 to 2013 as part of the Helping Ourselves, Helping Others: Young Women’s Breast Cancer Study, an ongoing prospective cohort study.

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Of these women, 780 (87.0%) reported undergoing BRCA testing by 1 year after breast cancer diagnosis. The rate of BRCA testing increased over time. Among the 39 women in the study with breast cancer diagnosed in 2006, 30 (76.9%) reported genetic testing. In 2007, 87 of 124 (70.2%) women with a breast cancer diagnosis reported genetic testing. Each year after 2007, the rate of genetic testing increased. By 2013, 123 of 129 (95.3%) women with a breast cancer diagnosis reported genetic testing.

Genetic risk seemed to influence subsequent treatment decisions. A greater proportion of BRCA mutation carriers chose double mastectomies than did noncarriers. Double mastectomy was chosen by 76 (86.4%) of 88 mutation carriers and 82 (51.2%) of 160 noncarriers (P < .001).

“Rates of BRCA1 and BRCA2 mutation testing are increasing in young women with breast cancer. Given that knowledge and concern about genetic risk influence surgical decisions and may affect systemic therapy trial eligibility, all young women with breast cancer should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines,” concluded the authors. Ann Partridge, MD, MPH, founder and director, Program for Young Women with Breast Cancer, the Dana-Farber Cancer Institute, Boston, Massachussetts, led the team.


1. Rosenberg SM, Ruddy KJ, Tamimi RM, et al. BRCA1 and BRCA2 mutation testing in young women with breast cancer [published online ahead of print February 11, 2016]. JAMA Oncology. doi:10.1001/jamaoncol.2015.5941.