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- W2370194643 abstract "Objective To analyze the clinical features of Chinese hereditary nonpolyposis colorectal cancer families and to screen the germline mutations of human mismatch repair gene hMLH1 and hMSH2 in the probands. Methods Thirty-one independent Chinese families were collected in Zhejiang province. All of them met Chinese HNPCC criteria. PCR and DHPLC were employed to screen the mutations. Sequencing analysis was followed to find out the exact mutation site and character in samples showing abnormal DHPLC profiles. Results One hundred and thirty-six malignant neoplasms were found in 107 patients, with 106 cases being diagnosed as colorectal cancer. Gastric cancer is the most common extracolonic cancer (10. 3%) in these families. Twenty-three different sequence variations in hMLH1 and hMSH2 genes were found in 17 families. Fifteen sequence variations were located in the exons, including 5 SNPs, 3 silent mutations, 3 missense mutations, 2 nonsense mutation and 2 frameshift mutations. Conclusions(1)Germline mutations of hMLH1 and hMSH2 genes were identified in about one-third HNPCC kindreds fulfilling Chinese HNPCC criteria. Missense mutation and silent mutation were often seen. (2)Chinese HNPCC families had some particular clinical features, such as a left-sided predominance, less synchronous or metachronous colorectal cancers, and frequent gastric cancer occurrence." @default.
- W2370194643 created "2016-06-24" @default.
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- W2370194643 date "2006-01-01" @default.
- W2370194643 modified "2023-09-23" @default.
- W2370194643 title "Clinical and genetic characterization of Chinese hereditary nonpolyposis colorectal cancer families" @default.
- W2370194643 hasPublicationYear "2006" @default.
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