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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-07-01
coleção:	Clinical Epigenetics
Assuntos:	Lynch Syndrome MS-HRM Pyrosequencing MLH1 gene promoter Hypermethylation Epimutation
Acesso em linha:	https://doi.org/10.1186/s13148-025-01904-1
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