Increased Frequency of BRCA Mutation Testing in Young Women With Breast Cancer


Key Points

  • An increasing proportion of patients diagnosed with breast cancer at age ≤ 40 years have undergone BRCA mutation testing.
  • Test results influenced decisions regarding surgical treatment.

Rosenberg et al found that the proportion of women diagnosed with breast cancer at age ≤ 40 years who have undergone BRCA1 and BRCA2 testing has increased during recent years. These findings, which were reported in JAMA Oncology, were part of the ongoing prospective Helping Ourselves, Helping Others: Young Women’s Breast Cancer Study.

Increased Proportion Tested

The study included data on 897 women from 11 academic and community medical centers diagnosed between August 2006 and December 2013. Of them, 780 (87.0%) reported BRCA testing by 1 year after diagnosis. The proportions of women undergoing testing were 76.9% (30 of 36) in 2006 and 70.2% (87 of 124) in 2007 and increased to 96.6% (141 of 146) in 2012 and 95.3% (123 of 129) in 2013 (P < .001 overall).

Women undergoing testing had a lower mean age at diagnosis (35.3 vs 36.9 years, P < .001). Among 117 untested women, 31.6% did not report discussion of the possibility of having a BRCA mutation with a physician or genetic counselor, and 36.8% reported the possibility of testing in the future.

Effect of Testing on Treatment Decisions

Among 831 women who were tested and reported a positive or negative result, 248 (29.8%) indicated that knowledge/concern about genetic risk influenced decisions regarding surgery, with 76 of 88 mutation carriers (86.4%) vs 82 of 160 noncarriers (51.2%) choosing bilateral mastectomy (P < .001) and 47 (53.4%) vs 4 (2.5%) choosing salpingo-oophorectomy (P < .001). Smaller numbers of patients indicated that testing influenced decisions regarding systemic treatments, with no significant differences being observed between carriers and noncarriers with regard to selection of tamoxifen, an aromatase inhibitor, ovarian suppression, or chemotherapy on the basis of mutation status.

The investigators concluded: “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.”

The study was funded by Susan G. Komen for the Cure, the National Institutes of Health, and The Pink Agenda.

Ann H. Partridge, MD, MPH, of Dana-Farber Cancer Institute, is the corresponding author of the JAMA Oncology article.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.