Article
Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.
Clinical epigenetics - 31 Dec 2024
Climent-Cantó Paula, Subirana-Granés Marc, Ramos-Rodríguez Mireia, Dámaso Estela, Marín Fátima, Vara Covadonga, Pérez-González Beatriz, Raurell Helena, Munté Elisabet, Soto José Luis, Alonso Ángel, Shin GiWon, Ji Hanlee, Hitchins Megan, Capellá Gabriel, Pasquali Lorenzo, Pineda Marta
Abstract excerpt
BACKGROUND: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent...
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