Genetics of Breast Cancer

摘要: Familial breast cancer is characterized by young age at diagnosis, an increased risk of bilateral cancer, increasing in conjunction with numbers affected family members, and a strong association ovarian cancer. At least eight candidate susceptibility genes have been identified. Mutations BRCA1, BRCA2, p53, the Cowden disease gene are relatively uncommon, highly penetrant, produce striking familial clusters BRCA1 BRCA2 most important these, accounting for estimated 80% hereditary 5 to 6% all cancers. Specific mutations particular importance population subgroups, such as those identified among Jewish women central European (Ashkenazi) origin. ataxia-telangiectasia rare HRAS1 variable number tandem repeats polymorphisms much more common but also less penetrant. They do not dramatic aggregations may prove be responsible substantial proportion cancers if their epidemiologic confirmed. Predictive genetic testing under way. Oncologists primary-care physicians must become familiar these disorders issues surrounding predictive order make appropriate management decisions about thought high