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遗传性非息肉病性结直肠癌 (HNPCC)是一常染色体显性遗传性疾病 ,肿瘤主要发生在右半结肠 ,同时性和异时性癌发生率高 ,并较常发生结肠外肿瘤。HNPCC的发生因于干细胞错配修复基因(MMR)的突变 ,目前为止 ,已克隆出 6种人类MMR ,其中 4种与HNPCC相关 ,并且MMR基因突变的内容(基因型 )与临床表现 (表型 )有联系。由于分子遗传学的进展 ,对HNPCC的诊断 ,建立了Bethesda指南。在癌发之前 ,基因检测使个体得到对癌的监控和处理方法的选择 ,对有癌风险的家庭成员作出较准确的判断 ,对癌患者 ,MMR检测能为外科手术方式的选择提供依据。
Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant hereditary disease. The tumors mainly occur in the right colon, with a high incidence of simultaneous and metachronous cancers and extracolonic tumors. The occurrence of HNPCC is caused by the mutation of the stem cell mismatch repair gene (MMR). So far, six human MMRs have been cloned, of which four are related to HNPCC, and the content (genotype) and clinical manifestation (phenotype) of MMR gene mutations )Connected. Because of the progress in molecular genetics, the Bethesda guidelines for the diagnosis of HNPCC have been established. Before the onset of cancer, genetic testing allows individuals to have the choice of monitoring and treatment of cancer, and to make more accurate judgments on family members who are at risk of cancer. For cancer patients, MMR testing can provide a basis for the choice of surgical methods.