Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

Methylation-sensitive high-resolution melting technology is a simple and sensitive method to detect germline epimutation of the MLH1 gene promoter

Abstract Background Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes MLH1, MSH2, MSH6 and PMS2. Epimutation (also called germline hypermethylation) of the MLH1 gene promoter explains rare Lynch syndrome cases...

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Main Authors: Hélène Delhomelle, Olfa Trabelsi-Grati, Marie-Charlotte Villy, Sabrina Ibadioune, Frederic Maraone, Mathieu Séné, Bruno Buecher, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Faustine Johannes, Lisa Golmard, Anne Vincent-Salomon, Eric Pasmant, Julie Leclerc, Michel Bahuau, Ivan Bièche, Chrystelle Colas
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Clinical Epigenetics
Subjects:
Lynch Syndrome
MS-HRM
Pyrosequencing
MLH1 gene promoter
Hypermethylation
Epimutation
Online Access:https://doi.org/10.1186/s13148-025-01904-1
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