Hereditary and Familial Colorectal Cancers-Lynch Syndrome (HNPCC) and Familial Colon Cancer Type X

来源 :BIT‘s2nd Annual World Cancer Congess-2009 (2009第二届癌症大会) | 被引量 : 0次 | 上传用户:a1a1a1a1a1a1a1
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  Hereditary colorectal cancer syndromes are classified according to the presence of unusually large number of adenomatous or hamartomatous polyps, or their absence.The latter category includes.Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC), which refers to autosomal dominant predisposition to colorectal, endometrial, and a spectrum of other cancers.The syndrome is due to heterozygous germ line mutations in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2.Amsterdam Ⅰ and Ⅱ criteria for clinical diagnosis and Bethesda guidelines for molecular testing of suspected patients usually point out additional families in which there is no evidence of mismatch repair deficiency.Hence, the term "Lynch syndrome" should be restricted to those families with germ line mutations in one of the mismatch repair genes.
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