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Article

Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer.

Familial cancer - 1 Jan 2001

Lucci-Cordisco E, Rovella V, Carrara S, Percesepe A, Pedroni M, Bellacosa A, Caluseriu O, Forasarig M, Anti M, Neri G, Ponz de Leon M, Viel A, Genuardi M

Abstract excerpt

Mutations of the mismatch repair (MMR) genes MLH1 and MSH2 are associated with hereditary nonpolyposis colorectal cancer (HNPCC), a highly penetrant autosomal dominant condition characterized by hypermutability of short tandemly repeated sequences in tumor DNA. Mutations of another MMR gene, MSH6, seem to be less common than MLH1 and MSH2 defects, and have been mostly observed in atypical HNPCC families,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14574004
DOI: 10.1023/a:1013872914474

Genes

MSH6
MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer.PMID 14574004Read ↗

Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German Hereditary Nonpolyposis Colorectal Cancer Consortium.Semantic proximity Read ↗

Meta-analysis of MSH6 gene mutation frequency in colorectal and endometrial cancers.Semantic proximity Read ↗

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.Semantic proximity Read ↗

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal CancerSemantic proximity Read ↗

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndromeSemantic proximity Read ↗

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.Semantic proximity Read ↗

MSH6 missense mutations are often associated with no or low cancer susceptibility.Semantic proximity Read ↗

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancerSemantic proximity Read ↗

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MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry.Semantic proximity Read ↗

Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer.Semantic proximity Read ↗

Incomplete Segregation of <em>MSH6</em> Frameshift Variants with Phenotype of Lynch SyndromeSemantic proximity Read ↗

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