Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994 Sep 1;371(6492):75-80.
doi: 10.1038/371075a0.

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

N C Nicolaides  1 , N Papadopoulos, B Liu, Y F Wei, K C Carter, S M Ruben, C A Rosen, W A Haseltine, R D Fleischmann, C M Fraser, et al.
Affiliations

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

N C Nicolaides et al. Nature. .

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.

PubMed Disclaimer

Publication types

Associated data