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Article

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.

Human mutation - 1 Dec 2008

Tournier Isabelle, Vezain Myriam, Martins Alexandra, Charbonnier Françoise, Baert-Desurmont Stéphanie, Olschwang Sylviane, Wang Qing, Buisine Marie Pierre, Soret Johann, Tazi Jamal, Frébourg Thierry, Tosi Mario

Abstract excerpt

Numerous unclassified variants (UVs) have been found in the mismatch repair genes MLH1 and MSH2 involved in hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome). Some of these variants may have an effect on pre-mRNA splicing, either by altering degenerate positions of splice site sequences or by affecting intronic or exonic splicing regulatory sequences such as exonic splicing enhancers (ESEs). In...

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Source

Identifiers

PMID: 18561205
DOI: 10.1002/humu.20796

Genes

MLH1
MSH2

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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A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.PMID 18561205Read ↗

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.Semantic proximity Read ↗

Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.Semantic proximity Read ↗

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient <scp>RNA</scp> analysesSemantic proximity Read ↗

Hereditary cancer genes are highly susceptible to splicing mutations.Semantic proximity Read ↗

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variantsSemantic proximity Read ↗

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.Semantic proximity Read ↗

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.Semantic proximity Read ↗

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genesSemantic proximity Read ↗

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.Semantic proximity Read ↗

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.Semantic proximity Read ↗

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant InterpretationSemantic proximity Read ↗

In silico Splicing Analysis of the PMS2 Gene: Exploring Alternative Molecular Mechanisms in PMS2-Associated Lynch SyndromeSemantic proximity Read ↗

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