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Article

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

Gastroenterology - 1 Nov 2006

Ollila Saara, Sarantaus Laura, Kariola Reetta, Chan Philip, Hampel Heather, Holinski-Feder Elke, Macrae Finlay, Kohonen-Corish Maija, Gerdes Anne-Marie, Peltomäki Päivi, Mangold Elisabeth, de la Chapelle Albert, Greenblatt Marc, Nyström Minna

Abstract excerpt

BACKGROUND & AIMS: Inherited deleterious mutations in mismatch repair genes MLH1, MSH2, and MSH6 predispose to hereditary nonpolyposis colorectal cancer. A major diagnostic challenge is the difficulty in evaluating the pathogenicity of missense mutations. Previously we showed that most missense variants in MSH6 do not impair MMR capability and are associated with no or low cancer susceptibility, whereas in MLH1,...

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Topics

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

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

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Share to Mutation, Missense

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Source

Identifiers

PMID: 17101317
DOI: 10.1053/j.gastro.2006.08.044

Genes

MSH2
MSH6
MLH1

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.

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