Educational review: Role of the surgeon in hereditary breast cancer

Up to 10% of the breast cancers detected in the United States are related t o an inherited germline mutation. usually in the BRCA1 or BRCA2 genes, and the majority of these patients will at some point require surgical evaluati on and/or treatment. Women who harbor a genetic predisposition for breast c ancer face an increased risk for early onset disease. bilateral tumors, and other non-breast malignancies, such as ovarian cancer. These issues raise questions regarding the appropriate surveillance regimen. and the potential efficacy of risk reduction strategies that should be considered. Once a br east cancer diagnosis has been established. the prognosis appears to be sim ilar to stage-controlled sporadic breast cancer, despite an increased preva lence of adverse primary tumor features. However. the role of breast conser vation therapy for these patients and the optimal means of addressing the s ubstantially increased risk for contralateral tumors is not yet defined. Th e reported literature in this area, including a discussion of the value of genetic counseling and genetic testing, is reviewed.