Excess ofhMLH1 germline mutations in Swiss families with hereditary non-polyposis colorectal cancer

摘要: Lynch syndrome, or hereditary non-polyposis colorectal cancer (HNPCC), is a consequence of dominantly inherited susceptibility to accumulate somatic mutations. The disorder manifested as familial aggregation cancers diagnosed at an early age and, lesser degree, the endometrium, ovary, urinary tract, and organs gastrointestinal tract other than colon. In more half HNPCC families investigated, predisposition has been linked germline mutations in one 2 genes hMLH1 hMSH2, involved post-replicative DNA-mismatch repair. Twenty-four Swiss affected with were screened for these genes, pathogenic identified over 70% fulfilling Amsterdam criteria (AC), but only 10% not completely criteria. One reported mutations, discovered extended kindred from Alps, shown be founding mutation. Unexpectedly, all are gene, where novel sequence alterations. Our data suggest that unusually high proportion patients may harbour mutation gene. Int. J. Cancer 78:680–684, 1998. © 1998 Wiley-Liss, Inc.