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Article

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Journal of medical genetics - 1 May 2001

Wagner A, Hendriks Y, Meijers-Heijboer E J, de Leeuw W J, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends A H, van Der Meer C, Lindhout D, Vasen H F, Breuning M H, Cornelisse C J, van Krimpen C, Niermeijer M F, Zwinderman A H, Wijnen J, Fodde R

Abstract excerpt

Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequently caused by germline mutations in the DNA mismatch repair (MMR) genes MSH2 and MLH1. Recently, mutations in another MMR gene, MSH6 (also known as GTBP), have also been shown to result in HNPCC. Preliminary data indicate that the phenotype related to MSH6 mutations may...

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Source

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Identifiers

PMID: 11333868
DOI: 10.1136/jmg.38.5.318
PMCID: PMC1734864

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.PMID 11333868Read ↗

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 ↗

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

Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?Semantic proximity Read ↗

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

Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.Semantic proximity Read ↗

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

Genotype-phenotype correlation in MMR mutation-positive families with Lynch syndrome.Semantic proximity Read ↗

MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families.Semantic proximity Read ↗

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

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.Semantic proximity Read ↗

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.Semantic proximity Read ↗

Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.Semantic proximity Read ↗

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