PMID: 8581513Oct 1, 1995Paper

Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients

Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte
M MiyakiM Chiba

Abstract

Mutations in hMSH2 and hMLH1 genes were analyzed in patients from 11 Japanese families that had been diagnosed as carrying hereditary nonpolyposis colorectal cancer (HNPCC) by clinical examination. Germ line mutations of hMSH2 gene were identified in 5 independent families in which colorectal (87% of patients), endometrial (30%), ovarian (17%), gastric (14%), and other cancers existed. Five mutations detected between codons 136 and 811 included single-base substitutions (C-->T and T-->G), a T deletion, and an A insertion, all of which produced stop codons resulting in truncated proteins, and an A-->T substitution at splice donor site of exon 5 which resulted in deletion of this exon. Moreover, one HNPCC family was presumed to have germ line mutation of hMSH2 gene because a somatic mutation of hMSH2 gene was detected in a cancer from a patient in this family. In addition to these 11 families already diagnosed with HNPCC, 3 new families with germ line mutations of hMSH2 gene and hMLH1 gene were found through analysis of DNA from patients who had multiple cancers with alteration in microsatellite DNA. These mutations included an AG deletion at codons 877-878 of hMSH2 gene, an AAG deletion at codons 616-618 of hMLH1 gene, and a C--...Continue Reading

Citations

Oct 23, 1997·Diseases of the Colon and Rectum·S Baba
Mar 20, 2002·Biochimie·Sandrine Jacob, Françoise Praz
Oct 13, 2011·Colorectal Disease : the Official Journal of the Association of Coloproctology of Great Britain and Ireland·R ZhangC-X Li
Sep 9, 2000·Journal of Medical Genetics·D C DesaiA de La Chapelle
Aug 31, 2013·Familial Cancer·Yael GoldbergTamar Peretz
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Jan 1, 1997·Human Mutation·N Papadopoulos, A Lindblom
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May 20, 1998·Cancer·I I ArzimanoglouH R Barber
Jul 1, 2006·World Journal of Gastroenterology : WJG·Xu-Lin WangShu Zheng

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