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Article

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

The Journal of molecular diagnostics : JMD - 1 Nov 2010

Perera Sheron, Li Brian, Tsitsikotas Soultana, Ramyar Lily, Pollett Aaron, Semotiuk Kara, Bapat Bharati

Abstract excerpt

Germline mutations in mismatch repair genes predispose patients to Lynch Syndrome and the majority of these mutations have been detected in two key genes, MLH1 and MSH2. In particular, about a third of the missense variants identified in MLH1 are of unknown clinical significance. Using the PeakPi...

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Source

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Identifiers

PMID: 20864636
DOI: 10.2353/jmoldx.2010.090240
PMCID: PMC2963917

Genes

MLH1
MSH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20864636-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.PMID 20864636Read ↗

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Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.Semantic proximity Read ↗

The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.Semantic proximity Read ↗

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