Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-02

AUTHORS

B Liu, R Parsons, N Papadopoulos, N C Nicolaides, H T Lynch, P Watson, J R Jass, M Dunlop, A Wyllie, P Peltomäki, A de la Chapelle, S R Hamilton, B Vogelstein, K W Kinzler

ABSTRACT

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disorder characterized by the early onset of colorectal cancer and linked to germline defects in at least four mismatch repair genes. Although much has been learned about the molecular pathogenesis of this disease, questions related to effective presymptomatic diagnosis are largely unanswered because of its genetic complexity. In this study, we evaluated tumors from 74 HNPCC kindreds for genomic instability characteristic of a mismatch repair deficiency and found such instability in 92% of the kindreds. The entire coding regions of the five known human mismatch repair genes were evaluated in 48 kindreds with instability, and mutations were identified in 70%. This study demonstrates that a combination of techniques can be used to genetically diagnose tumor susceptibility in the majority of HNPCC kindreds and lays the foundation for genetic testing of this relatively common disease. More... »

PAGES

169-174

Journal

TITLE

Nature Medicine

ISSUE

2

VOLUME

2

Author Affiliations

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/nm0296-169

    DOI

    http://dx.doi.org/10.1038/nm0296-169

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1028904279

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/8574961


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