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Article

Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.

Familial cancer - 1 Jan 2008

Murphy H R, Armstrong R, Cairns D, Greenhalgh K L

Abstract excerpt

Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to DNA Mismatch Repair
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18236172
DOI: 10.1007/s10689-008-9183-y

Genes

MSH6
MLH1
MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.PMID 18236172Read ↗

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Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?Semantic proximity Read ↗

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MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?Semantic proximity Read ↗

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

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The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.Semantic proximity Read ↗

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