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Article

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

International journal of oncology - 1 Jan 2006

Ollila Saara, Fitzpatrick Roslyn, Sarantaus Laura, Kariola Reetta, Ambus Ingrid, Velsher Lea, Hsieh Eugene, Andersen Mette Klarskov, Raevaara Tiina E, Gerdes Anne-Marie, Mangold Elisabeth, Peltomäki Päivi, Lynch Henry T, Nyström Minna

Abstract excerpt

A majority of families with hereditary nonpolyposis colorectal cancer (HNPCC) are attributable to germline mutations in three DNA mismatch repair (MMR) genes, MLH1, MSH2 and MSH6. However, the clinical phenotype appears to reflect a complex interplay between the predisposing mutation and putative constitutional and somatic modifiers. Certain MMR gene mutations predispose to combined occurrence of cutaneous...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MSH6 gene

Share to Genetic Predisposition to Disease

Share to Mutation, Missense

Share to MutS Homolog 2 Protein

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Source

Identifiers

PMID: 16327991

Genes

MSH2
MLH1
MSH6

Variants

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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Click a neighbor to travelStep 1 · 12 closest

The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.PMID 16327991Read ↗

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.Semantic proximity Read ↗

Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.Semantic proximity Read ↗

Muir-Torre Syndrome with Novel Mutation in the MSH2 Gene.Semantic proximity Read ↗

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.Semantic proximity Read ↗

Muir-Torre syndrome: Diagnostic and screening guidelines.Semantic proximity Read ↗

A genotype-phenotype correlation in HNPCC: strong predominance of <i>msh2</i> mutations in 41 patients with Muir-Torre syndromeSemantic proximity Read ↗

Molecular Pathologic Analysis Enhances the Diagnosis and Management of Muir-Torre Syndrome and Gives Insight Into Its Underlying Molecular PathogenesisSemantic proximity Read ↗

Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History.Semantic proximity Read ↗

Classification of MSH6 Variants of Uncertain Significance Using Functional AssaysSemantic proximity Read ↗

DNA mismatch repair and the significance of a sebaceous skin tumor for visceral cancer prevention.Semantic proximity Read ↗

Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria.Semantic proximity Read ↗

Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.Semantic proximity Read ↗

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