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Article

Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

PloS one - 1 Jan 2013

Wielders Eva A L, Houlleberghs Hellen, Isik Gözde, te Riele Hein

Abstract excerpt

Lynch syndrome confers an increased risk to various types of cancer, in particular early onset colorectal and endometrial cancer. Mutations in mismatch repair (MMR) genes underlie Lynch syndrome, with the majority of mutations found in MLH1 and MSH2. Mutations in MSH6 have also been found but these do not always cause a clear cancer predisposition phenotype and MSH6-defective tumors often do not show the standard...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to MutS Homolog 2 Protein

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Source

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Identifiers

PMID: 24040339
DOI: 10.1371/journal.pone.0074766
PMCID: PMC3769292

Genes

MSH6
MSH2
MLH1

Variants

Provenance

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Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.PMID 24040339Read ↗

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