Management of women at increased risk for hereditary breast cancer

This chapter reviews the management of women at increased risk for hereditary breast cancer. Screening strategies, emphasizing new data regarding magnetic resonance imaging (MRI), are discussed. It is recommended that women at risk for hereditary breast cancer consider annual MRI in addition to mammography and clinical breast examinations. Next, currently available data regarding chemoprevention and surgical prophylaxis for women at high risk for hereditary breast cancer are reviewed. Chemoprevention with tamoxifen reduces the risk of breast cancer by approximately 50% in a heterogeneous population of high risk women; however, the benefit in women at risk for hereditary breast cancer is less clear. In contrast, surgical prophylaxis with bilateral mastectomy reduces the risk of breast cancer by at least 90% and bilateral oophorectomy reduces the risk of breast cancer by approximately 50% among high risk women. Next, ways in which BRCA mutation-associated breast cancers differ from sporadic breast cancers are reviewed. Unique management issues pertaining to women with hereditary breast cancer are then discussed with an emphasis on surgical decision making and peri-diagnostic genetic counseling and testing. Finally, the management of women at risk for hereditary breast cancer in whom deleterious mutations are not identified is reviewed.