RGD Reference Report - Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. - Rat Genome Database

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Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.

Authors: Nicolaides, NC  Papadopoulos, N  Liu, B  Wei, YF  Carter, KC  Ruben, SM  Rosen, CA  Haseltine, WA  Fleischmann, RD  Fraser, CM 
Citation: Nicolaides NC, etal., Nature. 1994 Sep 1;371(6492):75-80.
RGD ID: 1599137
Pubmed: PMID:8072530   (View Abstract at PubMed)
DOI: DOI:10.1038/371075a0   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Lynch syndrome  IAGP 1599137; 1599137 RGD 
Lynch syndrome  ISOPMS1 (Homo sapiens)1599137 RGD 
Lynch syndrome  ISOPMS2 (Homo sapiens)1599137; 1599137 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pms1  (PMS1 homolog 1, mismatch repair system component)
Pms2  (PMS1 homolog 2, mismatch repair system component)

Genes (Mus musculus)
Pms2  (PMS1 homolog2, mismatch repair system component)

Genes (Homo sapiens)
PMS1  (PMS1 homolog 1, mismatch repair system component)
PMS2  (PMS1 homolog 2, mismatch repair system component)


Additional Information