Mismatch repair deficiency in phenotypically normal human cells

Ramon Parsons, Guo Min Li, Matthew Longley, Paul Modrich, Bo Liu, Theresa Berk, Stanley R. Hamilton, Kenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

290 Scopus citations


Tumor cells in patients with hereditary nonpolyposis colorectal cancer (HNPCC) are characterized by a genetic hypermutability caused by defects in DNA mismatch repair. A subset of HNPCC patients was found to have widespread mutations not only in their tumors, but also in their non-neoplastic cells. Although these patients had numerous mutations in all tissues examined, they had very few tumors. The hypermutability was associated with a profound defect in mismatch repair at the biochemical level. These results have implications for the relation between mutagenesis and carcinogenesis, and they suggest that mismatch repair deficiency is compatible with normal human development.

Original languageEnglish (US)
Pages (from-to)738-740
Number of pages3
Issue number5211
StatePublished - May 5 1995

ASJC Scopus subject areas

  • General


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