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

doi:10.1186/s13148-019-0762-6

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Article

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

Clinical epigenetics - 28 Nov 2019

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

Abstract excerpt

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...

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PMID: 31779681
DOI: 10.1186/s13148-019-0762-6
PMCID: PMC6883525

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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