Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations

Abstract 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 methy...

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Main Authors: Paula Climent-Cantó, Marc Subirana-Granés, Mireia Ramos-Rodríguez, Estela Dámaso, Fátima Marín, Covadonga Vara, Beatriz Pérez-González, Helena Raurell, Elisabet Munté, José Luis Soto, Ángel Alonso, GiWon Shin, Hanlee Ji, Megan Hitchins, Gabriel Capellá, Lorenzo Pasquali, Marta Pineda
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Clinical Epigenetics
Subjects:
Lynch syndrome
Constitutional MLH1 epimutation
MLH1 promoter methylation
3D interactions
Chromatin structure
Cis-regulatory regions
Online Access:https://doi.org/10.1186/s13148-024-01770-3
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