Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer
- 1 September 1994
- journal article
- letter
- Published by Springer Nature in Nature
- Vol. 371 (6492), 75-80
- https://doi.org/10.1038/371075a0
Abstract
HEREDITARY nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases1. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease28. In particular, hMSH2 and hMLHl homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases916. Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMSl and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMSl and hPMS2 were found to be mutated in the germline of HNPCC patients. This doubles the number of genes implicated in HNPCC and may help explain the relatively high incidence of this disease.Keywords
This publication has 28 references indexed in Scilit:
- Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.Proceedings of the National Academy of Sciences, 1994
- Hypermutability and mismatch repair deficiency in RER+ tumor cellsCell, 1993
- Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancerNature Genetics, 1993
- Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repairNature, 1993
- Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesisNature, 1993
- Microsatellite Instability in Cancer of the Proximal ColonScience, 1993
- Genetic Mapping of a Locus Predisposing to Human Colorectal CancerScience, 1993
- Clues to the Pathogenesis of Familial Colorectal CancerScience, 1993
- Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: An updated reviewGastroenterology, 1993
- Isolation and characterization of allelic losses and gains in colorectal tumors by arbitrarily primed polymerase chain reaction.Proceedings of the National Academy of Sciences, 1992