Mismatch repair defects in cancer.
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.
Jiricny
J
J
Institute of Medical Radiobiology of the University of Zürich, Paul Scherrer Institute, Zürich, CH-8008, Switzerland. jiricny@imr.unizh. ch
Nyström-Lahti
M
M
D000818:Animals; D020137:Base Pair Mismatch / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D006801:Humans