Ontology highlight
ABSTRACT:
SUBMITTER: Damaso E
PROVIDER: S-EPMC6883525 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Dámaso Estela E Canet-Hermida Júlia J Vargas-Parra Gardenia G Velasco Àngela À Marín Fátima F Darder Esther E Del Valle Jesús J Fernández Anna A Izquierdo Àngel À Mateu Gemma G Oliveras Glòria G Escribano Carmen C Piñol Virgínia V Uchima Hugo-Ikuo HI Soto José Luis JL Hitchins Megan M Farrés Ramon R Lázaro Conxi C Queralt Bernat B Brunet Joan J Capellá Gabriel G Pineda Marta M
Clinical epigenetics 20191128 1
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 cancer.Eighteen patients with MLH1-hypermethylated colorectal tumors in whom MLH1 methylation was previously undetected in blood by methylation-specific multiplex ligation-dependent probe amplification (MS ...[more]