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Article

KLLN epigenotype-phenotype associations in Cowden syndrome.

European journal of human genetics : EJHG - 1 Nov 2015

Nizialek Emily A, Mester Jessica L, Dhiman Vineet K, Smiraglia Dominic J, Eng Charis

Abstract excerpt

Germline KLLN promoter hypermethylation was recently identified as a potential genetic etiology of the cancer predisposition syndrome, Cowden syndrome (CS), when no causal PTEN gene mutation was found. We screened for KLLN promoter methylation in a large prospective series of CS patients and determined the risk of benign and malignant CS features in patients with increased methylation both with and without a PTEN...

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Topics

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Share to DNA Methylation
Share to Epigenesis, Genetic
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hamartoma Syndrome, Multiple

Share to Promoter Regions, Genetic

Share to PTEN Phosphohydrolase

Share to Thyroid Neoplasms

Share to Tumor Suppressor Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 25669429
DOI: 10.1038/ejhg.2015.8
PMCID: PMC4613489

Genes

KLLN
PTEN

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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