Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Fredrick S. Leach; Nicholas C. Nicolaides; Nickolas Papadopoulos; Bo Liu; Jin Jen; Ramon Parsons; Päivi Peltomäki; Pertti Sistonen; Lauri A. Aaltonen; Minna Nyström-Lahti; X. Y. Guan; Ji Zhang; Paul S. Meltzer; Jing Wei Yu; Fa Ten Kao; David J. Chen; Karen M. Cerosaletti; R. E.Keith Fournier; Sean Todd; Tracey Lewis; Robin J. Leach; Susan L. Naylor; Jean Weissenbach; Jukka Pekka Mecklin; Heikki Järvinen; Gloria M. Petersen; Stanley R. Hamilton; Jane Green; Jeremy Jass; Patrice Watson; Henry T. Lynch; Jeffrey M. Trent; Albert de la Chapelle; Kenneth W. Kinzler; Bert Vogelstein

doi:10.1016/0092-8674(93)90330-S

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Journal article

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Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Fredrick S. Leach, Nicholas C. Nicolaides, Nickolas Papadopoulos, Bo Liu, Jin Jen, Ramon Parsons, Päivi Peltomäki, Pertti Sistonen, Lauri A. Aaltonen, Minna Nyström-Lahti, …

Cell, Vol.75(6), pp.1215-1225

12/17/1993

DOI: https://doi.org/10.1016/0092-8674(93)90330-S

PMID: 8261515

Abstract

Biochemistry, Genetics and Molecular Biology(all)

Recent studies have shown that a locus responsible for hereditary nonpolyposis colorectal cancer (HNPCC) is on chromosome 2p and that tumors developing in these patients contain alterations in microsatellite sequences (RER+ phenotype). We have used chromosome microdissection to obtain highly polymorphic markers from chromosome 2p16. These and other markers were ordered in a panel of somatic cell hybrids and used to define a 0.8 Mb interval containing the HNPCC locus. Candidate genes were then mapped, and one was found to lie within the 0.8 Mb interval. We identified this candidate by virtue of its homology to mutS mismatch repair genes. cDNA clones were obtained and the sequence used to detect germline mutations, including those producing termination codons, in HNPCC kindreds. Somatic as well as germline mutations of the gene were identified in RER+ tumor cells. This mutS homolog is therefore likely to be responsible for HNPCC.

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Title: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
Creators: Fredrick S. Leach (Author) - Johns Hopkins University
Nicholas C. Nicolaides (Author) - Johns Hopkins University
Nickolas Papadopoulos (Author) - Johns Hopkins University
Bo Liu (Author) - Johns Hopkins University
Jin Jen (Author) - Johns Hopkins University
Ramon Parsons (Author) - Johns Hopkins University
Päivi Peltomäki (Author) - University of Helsinki
Pertti Sistonen (Author) - University of Helsinki
Lauri A. Aaltonen (Author) - University of Helsinki
Minna Nyström-Lahti (Author) - University of Helsinki
X. Y. Guan (Author) - National Institutes of Health
Ji Zhang (Author) - National Institutes of Health
Paul S. Meltzer (Author) - National Institutes of Health
Jing Wei Yu (Author) - University of Denver
Fa Ten Kao (Author) - University of Denver
David J. Chen (Author) - Los Alamos National Laboratory
Karen M. Cerosaletti (Author) - Fred Hutchinson Cancer Research Center
R. E.Keith Fournier (Author) - Fred Hutchinson Cancer Research Center
Sean Todd (Author) - University of Texas Health Science Center at San Antonio
Tracey Lewis (Author) - University of Texas Health Science Center at San Antonio
Robin J. Leach (Author) - University of Texas Health Science Center at San Antonio
Susan L. Naylor (Author) - University of Texas Health Science Center at San Antonio
Jean Weissenbach (Author) - CNRS
Jukka Pekka Mecklin (Author) - University of Helsinki
Heikki Järvinen (Author) - University of Helsinki
Gloria M. Petersen (Author) - Johns Hopkins University
Stanley R. Hamilton (Author) - Johns Hopkins University
Jane Green (Author) - Memorial University of Newfoundland
Jeremy Jass (Author) - The University of Auckland
Patrice Watson (Author) - Creighton University
Henry T. Lynch (Author) - Department of Preventive Medicine
Jeffrey M. Trent (Author) - National Institutes of Health
Albert de la Chapelle (Author) - University of Helsinki
Kenneth W. Kinzler (Author) - Johns Hopkins University
Bert Vogelstein (Author) - Johns Hopkins University
Publication Details: Cell, Vol.75(6), pp.1215-1225
Series: 75
Number of pages: 11
Identifiers: 991005929706902656
Academic Unit: Prev. Medicine & Public Health
Language: English
Resource Type: Journal article

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

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