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Article

Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation.

Cancer medicine - 1 Feb 2018

Pinto Diana, Pinto Carla, Guerra Joana, Pinheiro Manuela, Santos Rui, Vedeld Hege Marie, Yohannes Zeremariam, Peixoto Ana, Santos Catarina, Pinto Pedro, Lopes Paula, Lothe Ragnhild, Lind Guro Elisabeth, Henrique Rui, Teixeira Manuel R

Abstract excerpt

Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29341452
DOI: 10.1002/cam4.1285
PMCID: PMC6193414

Genes

MLH1
BRAF
MSH2

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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