Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

Constitutional MLH1 methylation (epimutation) is a rare cause of Lynch syndrome. Low-level methylation (≤ 10%) has occasionally been described. This study aimed to identify low-level constitutional MLH1 epimutations and determine its causal role in patients with MLH1-hypermethylated colorectal cance...

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Publicat a:Clin Epigenetics
Autors principals: Dámaso, Estela, Canet-Hermida, Júlia, Vargas-Parra, Gardenia, Velasco, Àngela, Marín, Fátima, Darder, Esther, del Valle, Jesús, Fernández, Anna, Izquierdo, Àngel, Mateu, Gemma, Oliveras, Glòria, Escribano, Carmen, Piñol, Virgínia, Uchima, Hugo-Ikuo, Soto, José Luis, Hitchins, Megan, Farrés, Ramon, Lázaro, Conxi, Queralt, Bernat, Brunet, Joan, Capellá, Gabriel, Pineda, Marta
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2019
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6883525/
https://ncbi.nlm.nih.gov/pubmed/31779681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-019-0762-6
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