Main purpose: Germline BRCA mutations (BRCAm) strongly influence the risk of developing breast cancer. This study aimed to understand the role of BRCAm testing in affected individuals and to assess its impact on the outcome of BRCAm carriers compared to non-carriers (BRCAwt) with breast cancer.

Research question: The research question is "Does standard of care testing for BRCAm improve survival outcomes of breast cancer patients?"

Methods: In a single institution observational cohort study, demographic and clinical characteristics were compared between breast cancer patients with and without BRCAm. Frequency of BRCA testing was assessed. Survival outcomes were assessed by initial treatment setting stratified by BRCA status.

Results: Of 5712 identified women with breast cancer, 14.6% (n = 835) were tested for a BRCA mutation and had a documented result. The total number and proportion of women tested for a BRCAm increased between 2000 and 2014, resulting in an increased number of BRCAm carriers identified. However, the proportion of women who underwent testing and had a BRCAm decreased during the study period from 27.5% in 2000-2004 to 13.3% in 2010-2014. Disease-free survival was similar in the adjuvant and neoadjuvant treatment settings between BRCAm and BRCAwt patients. Progression-free survival on first line treatment and overall survival for patients with metastatic disease was also similar between BRCAm and BRCAwt patients.

Conclusions: The proportion of women tested and the number of BRCAm identified increased during the study period despite a decreasing proportion of positive results among women tested.

Stenehjem DD, Telford C, Unni SK, Bauer H, Sainski A, Deka R, Schauerhamer MB, Ye X, Tak CR, Ma J, Dalvi TB, Gutierrez L, Kaye JA, Tyczynski JE, Brixner DI, Biskupiak JE. BRCA testing and outcomes in women with breast cancer. Breast Cancer Res Treat. 2021 Apr;186(3):839-850. doi: 10.1007/s10549-020-06038-x. Epub 2021 Jan 3. PMID: 33389410.