Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations.
作者： E Thompson , CJ Meldrum , R Crooks , M McPhillips , L Thomas
DOI: 10.1111/J.1399-0004.2004.00214.X
关键词: Biology 、 Denaturing high performance liquid chromatography 、 Disease 、 Colorectal cancer 、 Gene 、 DNA mismatch repair 、 Mutation 、 Genetics 、 Rectal disease 、 Clinical phenotype
摘要: Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant, inherited condition that characterized primarily by the development of early-onset and a number other epithelial malignancies. The underlying genetic basis disease associated with breakdown DNA-mismatch repair. There are many genes involved in repair, five them have been implicated HNPCC. Two (hMSH2 hMLH1) account for majority HNPCC families (approximately 60%), it not known what exact contributions remaining three (hPMS1, hPMS2, hMSH6) relation to this condition. In addition, sixth gene (hEXO1) has phenotype consistent Current estimates suggest all four these genes, combined, may up 5% families. report, we examine contribution hPMS2 hEXO1 well-defined set fulfill diagnostic criteria hEXO1, were studied denaturing high performance liquid chromatography (DHPLC) analysis 21 previously determined mutations hMSH2 or hMLH1. accounts small proportion families, none deemed be hEXO1. Mutations appear adhering Amsterdam II criteria, whereas does
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