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Article

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.

Human mutation - 1 May 2009

Arnold Sven, Buchanan Daniel D, Barker Melissa, Jaskowski Lesley, Walsh Michael D, Birney Genevieve, Woods Michael O, Hopper John L, Jenkins Mark A, Brown Melissa A, Tavtigian Sean V, Goldgar David E, Young Joanne P, Spurdle Amanda B

Abstract excerpt

Reliable methods for predicting functional consequences of variants in disease genes would be beneficial in the clinical setting. This study was undertaken to predict, and confirm in vitro, splicing aberrations associated with mismatch repair (MMR) variants identified in familial colon cancer patients. Six programs were used to predict the effect of 13 MLH1 and 6 MSH2 gene variants on pre-mRNA splicing. mRNA from...

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Share to Adaptor Proteins, Signal Transducing
Share to Biological Assay

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Segregation

Share to Colonic Neoplasms

Share to DNA, Complementary

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Share to RNA Splicing

Source

Open in PubMed Open full text

Identifiers

PMID: 19267393
DOI: 10.1002/humu.20936
PMCID: PMC2707453

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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