BRCA1/2 MUTATIONS AND TRIPLE NEGATIVE BREAST CANCERS Beth N. Peshkin, MS, CGC, Fisher Center for Familial Cancer Research, Georgetown University, Lombardi Comprehensive Cancer Center, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC 20007-2401, Phone: 202.687.2716, Fax: 202.687.0305 Michelle L. Alabek, MS, and Norton Cancer Institute, 3991 Dutchmans Lane, Suburban Plaza II, Suite 405, Louisville, KY 40207, Phone: 502.899.6818, Fax: 502.899.6763 Claudine Isaacs, MD Fisher Center for Familial Cancer Research, Georgetown University, Lombardi Comprehensive Cancer Center, 3800 Reservoir Road, NW, Washington, DC 20007, Phone: 202.444.3677, Fax: 202. 444.9429 Beth N. Peshkin: peshkinb@georgetown.edu; Michelle L. Alabek: Michelle.Alabek@nortonhealthcare.org; Claudine Isaacs: isaacsc@georgetown.edu Abstract Identifying breast cancer patients at increased risk for carrying a mutation in the BRCA1 and BRCA2 genes is an important objective in clinical practice. Although age at diagnosis, family history of breast and/or ovarian cancer, and ethnicity are all essential parameters to consider when assessing risk, there are limitations as to how well such factors accurately predict BRCA1/2 status, even when quantitative risk models are applied. Integrating information about triple negative (TN) disease may help refine these estimates. Among newly diagnosed breast cancer patients, fewer than 10% have a mutation in the BRCA1 or BRCA2 genes, and up to 20% present with TN disease. However, among BRCA1 mutation carriers at least one-third have TN breast cancers. In this paper, we review key studies that have assessed breast cancer cases with a known BRCA1/2 status and triple marker data. We also discuss how integrating such information into qualitative and quantitative risk assessments of BRCA1/2 carrier probability may improve the ability to identify women who are appropriate candidates for genetic testing. Identifying women at increased risk is critical as knowledge of mutation status may impact surgical and systemic treatment in newly diagnosed patients, as well as recommendations for ovarian cancer risk management. Keywords BRCA1; BRCA2; genetic counseling; genetic testing; triple negative breast cancer; BRCA mutation prediction models; BRCAPRO Correspondence to: Beth N. Peshkin, peshkinb@georgetown.edu. Disclaimer: None of the authors has a financial conflict of interest. This research was supported in part by the Jess and Mildred Fisher Center for Familial Cancer Research, Georgetown University, Lombardi Comprehensive Cancer Center. NIH Public Access Author Manuscript Breast Dis. Author manuscript; available in PMC 2013 December 21. Published in final edited form as: Breast Dis. 2010 ; 32(0): . doi:10.3233/BD-2010-0306. NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author Manuscript