Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients

Bo Liu, Ramon Parsons, Nickolas Papadopoulos, Nicholas C. Nicolaides, Henry T. Lynch, Patrice Watson, Jeremy R. Jass, Malcolm Dunlop, Andrew Wyllie, Païvi Peltomäki, Albert De La Chapelle, Stanley R. Hamilton, Bert Vogelstein, Kenneth W. Kinzler

Research output: Contribution to journalArticlepeer-review

865 Scopus citations


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.

Original languageEnglish
Pages (from-to)169-174
Number of pages6
JournalNature Medicine
Issue number2
StatePublished - 1996
Externally publishedYes


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