Hereditary breast cancer.
作者： Leif W. Ellisen, MD, PhD , Daniel A. Haber, MD, PhD
DOI: 10.1146/ANNUREV.MED.49.1.425
关键词: Cancer 、 Li–Fraumeni syndrome 、 Presymptomatic Testing 、 Population 、 Cowden syndrome 、 PTEN 、 Medicine 、 Breast cancer 、 Genetic predisposition 、 Cancer research 、 Bioinformatics
摘要: Genetic predisposition is responsible for 5-10% of all breast cancer, and a much larger percent early-onset disease. Within the past few years, number genes associated with high risk cancer have been identified, including BRCA1, BRCA2, p53, Cowden disease gene PTEN/MMAC1. These appear to function as tumor suppressors, although their mutation frequency in general population low, certain populations carrier up 1% particular BRCA1 BRCA2 mutations. The isolation these likely provide important insight into pathogenesis human cancer. clinical application molecular discoveries raises controversial issues regarding presymptomatic testing patients suspected harboring predisposing
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