Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

Nicholas C. Nicolaldes, Nickolas Papadopoulos, Bo Liu, Ying Fel Wel, Kenneth C. Carter, Steven M. Ruben, Cralg 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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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 (US)
Pages (from-to)75-80
Number of pages6
Issue number6492
StatePublished - Sep 1 1994


ASJC Scopus subject areas

  • General

Cite this

Nicolaldes, N. C., Papadopoulos, N., Liu, B., Wel, 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 PMS homologues in hereditary nonpolyposis colon cancer. Nature, 371(6492), 75-80.