Article
MLH1 Constitutional Epimutation Screening Requires Highly Sensitive Assays to Identify Lynch Syndrome Patients With Very Low Mosaic Methylation Level.
Human mutation - 1 Jan 2026
Facon Cédric, Vermaut Catherine, Delattre Lucie, Flament Cathy, Dardenne Antoine, Brahimi Afane, Lejeune Sophie, Cattan Stéphane, Bonnet Francoise, Basset Noémie, Bensen Anika, Dupré Anais, Berthet Pascaline, Dhooge Marion, Colas Chrystelle, Mouret-Fourme Emmanuelle, Delhomelle Hélène, Nambot Sophie, Baurand Amandine, Planes Marc, Menjard Julie, Benusiglio Patrick R, Pigny Pascal, Buisine Marie-Pierre, Leclerc Julie
Abstract excerpt
Constitutional epimutations of the MLH1 gene are an alternative cause of Lynch syndrome, in which inactivation of an allele of a mismatch repair (MMR) gene results from MLH1 promoter methylation, rather than a pathogenic genetic variant. These epimutations are often mosaic, and methylation levels ranging from ~50% monoallelic methylation to low-level methylation (1%-5%) are observed in the blood of MLH1...
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