Update on breast cancer susceptibility genes.

摘要: Approximately 7% of breast cancer and 10% ovarian in the United States is thought to be due presence an autosomal dominant susceptibility allele. Two genes (BRCA1 BRCA2) now have been identified (Miki et al. 1994; Wooster 1995; Tavtigian 1996) a third (BRCA3) being actively sought. Breast families with mutations these appears as trait, affecting many half women each generation. Thus, both are considered high penetrance genes, majority individuals alterations will ultimately develop cancer. Mutations several other such p53 (associated Li-Fraumeni syndrome) MSH2 hereditary non-polyposis colon cancer) also causes cancer, but extremely rare general population. It very likely that contribute inherited where incidence elevated, appearance more scattered, because fewer numbers carriers result lower genes. These genetic complex what little known about candidates for low not yet clinical use.