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- W2911965345 abstract "FigurePurpose: Determining the MMR gene mutation careers in HNPCC families to prevent advanced disease by early diagnosis through recommended screening tests, decreasing both mortality and morbidity rates. Methods: 592 unselected colorectal cancer patients were screened for MMR mutations by immunohistochemical analysis. For patients with defects in expression of at least one of the MMR proteins, full mutational analysis was performed by PCR amplification of each exon of the respective gene, including the flanking intronic regions, follwed by bidirectional sequencing. Any variation in DNA sequence was confirmed on an independent PCR product. Paired tumoral and genomic DNA samples were used for microsatellite instability testing.Table: Clinical characteristics of 56 cases with colorectal cancer who met the Amsterdam II CriteriaResults: 56/592 families fulfilled the Amsterdam Criteria II. 47/592 patients had lack of expression of MMR protein(s); 17(36%) MLH1, 25(53%) MSH2 and 5(11%) PMS2. Among them, we have found 20 mutations in 18/47 families so far. 7 mutations were novel mutations and were reported to the GenBank (GenBank accession numbers: EF570785-EF570789, EF583852 and EF125076). Genetic tests were offered to at risk family members of these patients. Conclusion: Our results provide further insight into the mutational spectrum of MMR genes in Iranian HNPCC families." @default.
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- W2911965345 date "2007-09-01" @default.
- W2911965345 modified "2023-09-26" @default.
- W2911965345 title "Mismatch Repair Gene Mutations in Iranian HNPCC Families" @default.
- W2911965345 doi "https://doi.org/10.14309/00000434-200709002-01208" @default.
- W2911965345 hasPublicationYear "2007" @default.
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