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Article

Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.

Human mutation - 1 Jan 2012

Crépin Michel, Dieu Marie-Claire, Lejeune Sophie, Escande Fabienne, Boidin Denis, Porchet Nicole, Morin Gilles, Manouvrier Sylvie, Mathieu Michèle, Buisine Marie-Pierre

Abstract excerpt

Constitutional epimutations of DNA mismatch repair (MMR) genes have been recently reported as a possible cause of Lynch syndrome. However, little is known about their prevalence, the risk of transmission through the germline and the risk for carriers to develop cancers. In this study, we evaluated the contribution of constitutional epimutations of MMR genes in Lynch syndrome. A cohort of 134 unrelated Lynch...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to MutL Protein Homolog 1

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Share to Proto-Oncogene Proteins B-raf

Source

Identifiers

PMID: 21953887
DOI: 10.1002/humu.21617

Genes

MLH1
MSH2
BRAF
EPCAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility.PMID 21953887Read ↗

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