Paper Title

Mutation of a mutL Homolog in Hereditary Colon Cancer

Authors

Profile picture of Bert Vogelstein
Bert Vogelstein
Profile picture of Kenneth W. Kinzler
Kenneth W. Kinzler
Profile picture of Nickolas Papadopoulos
Nickolas Papadopoulos
Profile picture of Jukka-Pekka Mecklin
Jukka-Pekka Mecklin
Profile picture of Päivi T Peltomaki
Päivi T Peltomaki
Profile picture of Kenneth C. Carter
Kenneth C. Carter
Profile picture of Claire M. Fraser
Claire M. Fraser
Profile picture of Mark Adams
Mark Adams

Journal

Science External link

Research Impact Tools

DOI

DOI Icon 10.1126/science.8128251

Publication Info

Volume: 263 | Issue: 5153 | Pages: 1625-1629

Published On

March, 1994

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Abstract

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.

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