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Article

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Human mutation - 1 Aug 2010

Kosinski Jan, Hinrichsen Inga, Bujnicki Janusz M, Friedhoff Peter, Plotz Guido

Abstract excerpt

Missense alterations of the mismatch repair gene MLH1 have been identified in a significant proportion of individuals suspected of having Lynch syndrome, a hereditary syndrome that predisposes for cancer of colon and endometrium. The pathogenicity of many of these alterations, however, is unclear. A number of MLH1 alterations are located in the C-terminal domain (CTD) of MLH1, which is responsible for...

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Topics

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to Immunoprecipitation

Share to Mismatch Repair Endonuclease PMS2

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Source

Open in PubMed Open full text

Identifiers

PMID: 20533529
DOI: 10.1002/humu.21301
PMCID: PMC2908215

Genes

MLH1
PMS2

Variants

Provenance

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Related research

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Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.PMID 20533529Read ↗

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Disentangling the mutational effects on protein stability and interaction of human MLH1Semantic proximity Read ↗

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The germline MLH1 c.2054 C>T mutation disrupts DNA mismatch repair and is detectable by digital PCR.Semantic proximity Read ↗

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