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Article

Clinical and genetic characterization of constitutional MLH1 promoter hypermethylation: Implications for Lynch syndrome diagnosis.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2026

Bishop Megan F H, Kanwar Nisha, Schefter Lauren E, Lahr Richard G, Tan Jia W, Urban Rhianna M, Holdren Megan A, Lahner Carrie A, Huismann Darcy J, Stein Mariam I, Tan Jiayu, Rumilla Kandelaria M, Kipp Benjamin R, Klee Eric W, Murphy Stephen J, Gupta Sounak, Shen Wei

Abstract excerpt

PURPOSE: Constitutional MLH1 promoter hypermethylation (CMPH) is a relatively rare cause of Lynch syndrome. While most cases appear to be sporadic, some result from secondary epimutations, mainly caused by germline variants in the MLH1 promoter region. This study describes the clinical phenotype and genetic etiology of CMPH in the largest clinical cohort to date. METHODS: A retrospective analysis was conducted...

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Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to MLH1 gene

Share to Germ-Line Mutation

Share to MutL Protein Homolog 1

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Share to Promoter Regions, Genetic

Source

Identifiers

PMID: 42125877
DOI: 10.1016/j.gim.2026.102594

Genes

MLH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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