Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer

Nicholas C. Nicolaides, Nickolas Papadopoulos, Bo Liu, Ying-fei Weit, Kenneth C. Carter, Steven M. Ruben, Craig A. Rosen, William A. Haseltine, Robert D. Fleischmann, Claire M. Fraser, Mark D. Adams, J. Craig Venter, Malcolm G. Dunlop, Stanley R. Hamilton, Gloria M. Petersen, Albert De La Chapelle, Bert Vogelstein, Kenneth W. Kinzler

Research output: Contribution to journalLetterpeer-review

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of man's commonest hereditary diseases. Several studies have implicated a defect in DNA mismatch repair in the pathogenesis of this disease. In particular, hMSH2 and hMLH1 homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases. Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMS1 and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMS1 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.
Original languageEnglish
Pages (from-to)75-80
JournalNature
Volume371
Issue number6492
DOIs
Publication statusPublished - 1 Sep 1994

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