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Curr Opin Genet Dev. 2000 Apr;10(2):157-61.

Mismatch repair defects in cancer.

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  • 1Institute of Medical Radiobiology of the University of Zürich, Paul Scherrer Institute, Zürich, CH-8008, Switzerland. jiricny@imr.unizh. ch


Post-replicative mismatch repair in humans utilises the hMSH2, hMSH6, hMSH3, hMLH1 and hPMS2 genes and possibly the newly identified hMLH3 gene. Recently, a link has been established between hMSH6 mutations and 'atypical' hereditary non-polyposis colon cancer (HNPCC) with an increased incidence of endometrial cancers. To satisfy the need for a diagnostic test capable of differentiating between pathogenic mutations and polymorphisms, several functional assays that fulfil these criteria have been described. These should allow for better diagnosis of HNPCC.

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