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Article

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.

International journal of cancer - 20 Feb 2003

Wang Yaping, Friedl Waltraut, Lamberti Christof, Jungck Matthias, Mathiak Micaela, Pagenstecher Constanze, Propping Peter, Mangold Elisabeth

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is often caused by a deficiency in DNA mismatch repair. By using conventional methods of mutation analysis, point mutations in the DNA mismatch repair genes MSH2 and MLH1 have been detected in up to 64% of patients suspected of HNPCC. However, lar...

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Share to Adaptor Proteins, Signal Transducing
Share to Base Pair Mismatch

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Share to MutS Homolog 2 Protein

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Source

Identifiers

PMID: 12494471
DOI: 10.1002/ijc.10869

Genes

MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12494471-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes.PMID 12494471Read ↗

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes <i>MSH2</i>, <i>MLH1</i>, <i>MSH6,</i> and <i>PMS2</i> responsible for hereditary nonpolyposis colorectal cancer (HNPCC)Semantic proximity Read ↗

Deletions Account for 17% of Pathogenic Germline Alterations in <i>MLH1</i> and <i>MSH2</i> in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) FamiliesSemantic proximity Read ↗

Spectrum and frequencies of mutations inMSH2 andMLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancerSemantic proximity Read ↗

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