Ms E, a 41-year-old BRCA1 mutation carrier, was diagnosed 4 years ago as having breast cancer and opted for breast-conserving therapy. Prior to receiving chemotherapy, she harvested her eggs through in vitro fertilization and subsequently used preimplantation genetic diagnosis; 3 months ago she delivered a healthy boy. This review examines the prevalence of BRCA mutations in women with breast cancer, as well as current recommendations for surgery and systemic therapy in these women. In particular, the risk of a contralateral breast cancer is reviewed to help guide the choice of prophylactic mastectomies vs breast-conserving therapy. The technology of preimplantation genetic diagnosis and genetic testing in relatives of mutation carriers is discussed.
A, Axial MRI showing left axillary adenopathy (arrowhead). B, Axial MRI showing the primary breast cancer (arrowhead). C, Coronal MRI reconstruction showing left axillary adenopathy (arrowheads). D. Sagittal MRI reconstruction showing the primary tumor (blue arrowhead) and axillary adenopathy (yellow arrowheads).
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