Hereditary Breast Cancer

Claudine Isaacs, Timothy R. Rebbeck

Introduction. OVERVIEW OF HEREDITARY BREAST CANCER. Genetic Epidemiology of Hereditary Breast Cancer. Breast Cancer Risk Estimation Models. Bioethics of Genetic Testing for Hereditary Breast Cancer. HBC SYNDROMES WITH KNOWN GENETIC ETIOLOGIES. Cancer Risks in BRCA1 and BRCA2 Mutation Carriers. Cowden's Syndrome. Li-Fraumeni Syndrome. Other Syndromes that Include Breast Cancer as a Component. Low penetrance genes. ASSESSMENT AND DISSEMINATION OF CLINICAL RISKS FOR BRCA1/2 MUTATION CARRIERS. Biology of BRCA1/2-associated Carcinogenesis. Genetic Testing and Counseling Issues. Molecular Diagnostics: Methods and Limitations. Cancer Risk Modifiers. BRCA1/2 in underserved or special populations. Psychological Impact of Genetic Testing. SCREENING AND PREVENTION OF HBC. Breast Cancer Screening and Prevention Options. Ovarian Cancer Screening and Prevention Options. Management of mutation-negative women. CLINICAL MANAGEMENT OF HBC. Pathology of Breast Tumors in Hereditary Breast Cancer. Pathology of Ovarian Tumors in Mutation Carriers. Local treatment Issues in HBC. Breast Cancer in Mutation Carriers.Impact on Systemic Therapy.