Hereditary Breast Cancer Syndromes: Molecular Pathogenesis and Diagnostics

摘要: Breast cancer is a major cause of morbidity and mortality worldwide. Approximately, 20% breast cases are due to familial predisposition. Most these cancers mutations in well-known genes linked cancer, such as BRCA1, BRCA2, TP53, CHEK2, PTEN, CDH1, STK11/LKB1, RAD50, BRIP1 PALB2. Some are, however, (a combination of) lower penetrance or some show no relationship with known susceptibility genes. In this article, we describe the function recently genes, molecular pathogenesis histopathology hereditary syndromes. This may provide better understanding classification offer tools for diagnosis selection patients sensitive specific targeted therapies. Key Concepts Breast most frequent diagnosed women worldwide. In 5–10% total cases, there susceptibility. Hereditary clear Mendelian inheritance pattern. Breast can be divided into high-, intermediate- low-risk which high-risk BRCA1 BRCA2 best known. Breast mostly involve DNA repair mechanisms. The discovery has improved our knowledge carcinogenesis, including morphological, immunohistochemical characterisation cancer. Moreover, biological processes underlying offers screening, prevention management. Keywords: hereditary cancer; BRCA1; BRCA2; pathology; genetics