Gerdes Anne-Marie A, Ejlertsen Bent
Odense Universitetshospital, Afdeling for Biokemi, Farmakologi og Genetik, DK-5000 Odense C.
Ugeskr Laeger. 2006 Jun 12;168(24):2367-9.
Most breast and ovarian cancers are sporadic, but approximately 5% are the result of inherited predisposition. Patients and their families may, through genetic risk assessment, be classified as subject to hereditary breast and/or ovarian cancers with an autosomal dominant inheritance. Mutations in the BRCA1 and BRCA2 genes have been identified in most breast and ovarian cancer families, although other genes may be involved. National guidelines for clinical intervention in the cases of high-risk individuals have been established.
大多数乳腺癌和卵巢癌是散发性的,但约5%是遗传易感性所致。通过基因风险评估,患者及其家族可能被归类为患有常染色体显性遗传的遗传性乳腺癌和/或卵巢癌。在大多数乳腺癌和卵巢癌家族中已发现BRCA1和BRCA2基因的突变,不过可能还涉及其他基因。针对高危个体的临床干预国家指南已经制定。