Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-09

AUTHORS

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

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, hMSH2 and hMLHl homologues of the bacterial DNA mismatch repair genes mutS and mutL, respectively, were shown to be mutated in a subset of HNPCC cases9–16. Here we report the nucleotide sequence, chromosome localization and mutational analysis of hPMSl and hPMS2, two additional homologues of the prokaryotic mutL gene. Both hPMSl 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. More... »

PAGES

75-80

Journal

TITLE

Nature

ISSUE

6492

VOLUME

371

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/371075a0

    DOI

    http://dx.doi.org/10.1038/371075a0

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1024767107

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8072530


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    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/371075a0'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/371075a0'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/371075a0'


     

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