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Article

Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.

PloS one - 1 Jan 2013

He Huiling, Li Wei, Wu Dayong, Nagy Rebecca, Liyanarachchi Sandya, Akagi Keiko, Jendrzejewski Jaroslaw, Jiao Hong, Hoag Kevin, Wen Bernard, Srinivas Mukund, Waidyaratne Gavisha, Wang Rui, Wojcicka Anna, Lattimer Ilene R, Stachlewska Elzbieta, Czetwertynska Malgorzata, Dlugosinska Joanna, Gierlikowski Wojciech, Ploski Rafal, Krawczyk Marek, Jazdzewski Krystian, Kere Juha, Symer David E, Jin Victor, Wang Qianben, de la Chapelle Albert

Abstract excerpt

Thyroid cancer shows high heritability but causative genes remain largely unknown. According to a common hypothesis the genetic predisposition to thyroid cancer is highly heterogeneous; being in part due to many different rare alleles. Here we used linkage analysis and targeted deep sequencing to...

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Share to Chromosomes, Human, Pair 4
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

Share to Genetic Linkage

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Share to Thyroid Neoplasms

Source

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Identifiers

PMID: 23690926
DOI: 10.1371/journal.pone.0061920
PMCID: PMC3653903

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23690926-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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