Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

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.

journal_name

Nature

journal_title

Nature

authors

Nicolaides NC,Papadopoulos N,Liu B,Wei YF,Carter KC,Ruben SM,Rosen CA,Haseltine WA,Fleischmann RD,Fraser CM

doi

10.1038/371075a0

subject

Has Abstract,Author List Incomplete

pub_date

1994-09-01 00:00:00

pages

75-80

issue

6492

eissn

0028-0836

issn

1476-4687

journal_volume

371

pub_type

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