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

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1378 Scopus citations

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 disease2-8. In particular, and homologues of the bacterial DNA mismatch repair genes and mutL, respectively, were shown to be mutated in a subset of HNPCC cases 9-16. Here we report the nucleotide sequence, chromosome localization and mutational analysis of and two additional homologues of the prokaryotic mutL gene. Both and 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 (US)
Pages (from-to)75-80
Number of pages6
JournalNature
Volume371
Issue number6492
DOIs
StatePublished - Jan 1 1994

ASJC Scopus subject areas

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    Nicolaides, N. C., Papadopoulos, N., Liu, B., Weit, Y. F., Carter, K. C., Ruben, S. M., Rosen, C. A., Haseltine, W. A., Fleischmann, R. D., Fraser, C. M., Adams, M. D., Venter, J. C., Dunlop, M. G., Hamilton, S. R., Petersen, G. M., De La Chapelle, A., Vogelstein, B., & Kinzler, K. W. (1994). Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer. Nature, 371(6492), 75-80. https://doi.org/10.1038/371075a0