[BRCA1 and BRCA2: mutations and other genetic changes--practical relevance]

Abstract

Genetic predisposition is responsible for 5-10% of all breast cancer. Within the past 10 years the major susceptibility genes for breast cancer, BRCA1 and BRCA2, have been identified. Both genes are considered to be tumor-suppressor genes, but their function is poorly understood. Current genetic testing for mutated BRCA1 and BRCA2 is the basis for estimating disease risk for women with a strong family history of breast cancer and will provide important information on the prevention and treatment of familial breast cancer.