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Chapter 35,316

Mismatch repair defects in cancer

Jiricny, J.; Nyström-Lahti, M.

Current Opinion in Genetics and Development 10(2): 157-161

2000


ISSN/ISBN: 0959-437X
PMID: 10753784
DOI: 10.1016/s0959-437x(00)00066-6
Accession: 035315424

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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