Mutation of a mutL homolog in hereditary colon cancer

Nickolas Papadopoulos, Nicholas C. Nicolaides, Ying Fei Wei, Steven M. Ruben, Kenneth C. Carter, Craig A. Rosen, William A. Haseltine, Robert D. Fleischmann, Claire M. Fraser, Mark D. Adams, J. Craig Venter, Stanley R. Hamilton, Gloria M. Petersen, Patrice Watson, Henry T. Lynch, Päivi Peltomäki, Jukka Pekka Mecklin, Albert De La Chapelle, Kenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journalArticlepeer-review

1706 Scopus citations


Some cases of hereditary nonpolyposis colorectal cancer (HNPCC) are due to alterations in a mutS-related mismatch repair gene. A search of a large database of expressed sequence tags derived from random complementary DNA clones revealed three additional human mismatch repair genes, all related to the bacterial mutL gene. One of these genes (hMLH1) resides on chromosome 3p21, within 1 centimorgan of markers previously linked to cancer susceptibility in HNPCC kindreds. Mutations of hMLH1 that would disrupt the gene product were identified in such kindreds, demonstrating that this gene is responsible for the disease. These results suggest that defects in any of several mismatch repair genes can cause HNPCC.

Original languageEnglish (US)
Pages (from-to)1625-1629
Number of pages5
Issue number5153
StatePublished - 1994

ASJC Scopus subject areas

  • General


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