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Article

Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.

Carcinogenesis - 1 Apr 2015

Cini Giulia, Carnevali Ileana, Quaia Michele, Chiaravalli Anna Maria, Sala Paola, Giacomini Elisa, Maestro Roberta, Tibiletti Maria Grazia, Viel Alessandra

Abstract excerpt

Lynch syndrome (LS) is an inherited predisposition cancer syndrome, typically caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 and PMS2. In the last years, a role for epimutations of the same genes has also been reported. MLH1 promoter methylation is a well known mechanism of somatic inactivation in tumors, and more recently, several cases of constitutional methylation have been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25742745
DOI: 10.1093/carcin/bgv015

Genes

MLH1
PMS2
MSH2
MSH6

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family.PMID 25742745Read ↗

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