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Article

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

Familial cancer - 1 Jul 2016

Hitchins Megan P

Abstract excerpt

Constitutional epimutation of the DNA mismatch repair gene, MLH1, represents a minor cause of Lynch syndrome. MLH1 epimutations are characterized by the soma-wide distribution of methylation of a single allele of the MLH1 promoter accompanied by constitutive allelic loss of transcription. 'Primary' MLH1 epimutations, considered pure epigenetic defects, tend to arise de novo in patients without a family history or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26886015
DOI: 10.1007/s10689-016-9887-3

Genes

MLH1

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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Finding the needle in a haystack: identification of cases of Lynch syndrome with MLH1 epimutation.PMID 26886015Read ↗

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