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Article

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.

European journal of human genetics : EJHG - 1 Jul 2008

Morak Monika, Schackert Hans Konrad, Rahner Nils, Betz Beate, Ebert Matthias, Walldorf Constanze, Royer-Pokora Brigitte, Schulmann Karsten, von Knebel-Doeberitz Magnus, Dietmaier Wolfgang, Keller Gisela, Kerker Brigitte, Leitner Gertraud, Holinski-Feder Elke

Abstract excerpt

Germline mutations in mismatch repair (MMR) genes, tumours with high microsatellite instability (MSI-H) and loss of MMR protein expression are the hallmarks of HNPCC (Lynch syndrome). While somatic MLH1 promoter hypermethylation is generally accepted in the tumorigenesis of sporadic tumours, abnormal MLH1 promoter methylation in normal body cells is controversially discussed as a mechanism predisposing patients...

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Identifiers

PMID: 18301449
DOI: 10.1038/ejhg.2008.25

Genes

MLH1

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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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