遺伝性乳癌とゲノム医療について

Hereditary breast and ovarian cancer（HBOC）syndrome is an autosomal dominant genetic disease, which represents about ５% of all breast cancers. The pathogenic mutations in the BRCA １／２genes involved in DNA repair pathway are known to be associated with an increased risk of not only breast cancer and ovarian cancer but also prostate cancer, pancreatic cancer and male breast cancer. The risk reduction management is required for BRCA mutation-positive patients. The surveillance using breast magnetic resonance imaging（MRI）is recommended for early detection of breast cancer in HBOC patients. Furthermore, it has been reported that risk reducing salpingooophorectomy（RRSO）reduces mortality caused by breast cancer and ovarian cancer, and contralateral risk-reducing mastectomy（CRRM）improves the overall survival in postoperative breast cancer patients.