Management of women with BRCA1/2 mutation-associated breast cancer

Abstract

SUMMARY BRCA mutation-associated breast cancer differs from sporadic breast cancer as studies show that mutation carriers have a higher risk of breast and ovarian cancer, and also have differential sensitivity to chemotherapeutic agents. With the more readily available BRCA genetic testing, BRCA mutation status should be considered in high-risk women, including women who are diagnosed with breast cancer at an early age, have a strong family history or have tumors with triple-negative status. This article reviews the risk-reducing surgeries, including the prophylactic contralateral mastectomy and bilateral salpingo-oophorectomy, in women diagnosed with BRCA-associated breast cancer. Additionally, the sensitivity of BRCA-defective breast cancer cell lines to platinum cytotoxic compounds, PARP and endocrine therapy is reviewed.