BRCA Mutations and Breast Cancer Prevention

Abstract

Women who inherit a deleterious BRCA1 or BRCA2 mutation face substantially increased risks of developing breast cancer, which is estimated at 70%. Although annual screening with magnetic resonance imaging (MRI) and mammography promotes the earlier detection of the disease, the gold standard for the primary prevention of breast cancer remains bilateral mastectomy. In the current paper, I review the evidence regarding the management of healthy BRCA mutation carriers, including key risk factors and protective factors, and also discuss potential chemoprevention options. I also provide an overview of the key findings from the literature published to date, with a focus on data from studies that are well-powered, and preferably prospective in nature.