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Article

MLH1 methylation screening is effective in identifying epimutation carriers.

European journal of human genetics : EJHG - 1 Dec 2012

Pineda Marta, Mur Pilar, Iniesta María Dolores, Borràs Ester, Campos Olga, Vargas Gardenia, Iglesias Sílvia, Fernández Anna, Gruber Stephen B, Lázaro Conxi, Brunet Joan, Navarro Matilde, Blanco Ignacio, Capellá Gabriel

Abstract excerpt

Recently, constitutional MLH1 epimutations have been identified in a subset of Lynch syndrome (LS) cases. The aim of this study was the identification of patients harboring constitutional MLH1 epimutations in a set of 34 patients with a clinical suspicion of LS, MLH1-methylated tumors and non-detected germline mutations in mismatch repair (MMR) genes. MLH1 promoter methylation was analyzed in lymphocyte DNA...

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Gene Silencing

Share to Genetic Carrier Screening

Share to Germ-Line Mutation

Share to MutL Protein Homolog 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 22763379
DOI: 10.1038/ejhg.2012.136
PMCID: PMC3499751

Genes

MLH1

Provenance

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