ArticlePloS one2013
Ultra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetrance.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer.Thyroid : official journal of the American Thyroid Association · 2025Guideline
- Article
- Identification of a Novel GermlineBiomedicines · 2024Article
- Chromosomal localization of mutated genes in non-syndromic familial thyroid cancer.Frontiers in oncology · 2024Review
- LINC00887 Acts as an Enhancer RNA to Promote Medullary Thyroid Carcinoma Progression by Binding with FOXQ1.Current cancer drug targets · 2024Article
- Comprehensive Pan-Cancer Mutation Density Patterns in Enhancer RNA.International journal of molecular sciences · 2023Article
- Genetic susceptibility to hereditary non-medullary thyroid cancer.Hereditary cancer in clinical practice · 2022Review
- Identification of NID1 as a novel candidate susceptibility gene for familial non-medullary thyroid carcinoma using whole-exome sequencing.Endocrine connections · 2022Article
- Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021Review
- Spirits in the Material World: Enhancer RNAs in Transcriptional Regulation.Trends in biochemical sciences · 2021Review
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Oncogenic seRNA functional activation: a novel mechanism of tumorigenesis.Molecular cancer · 2020Review
- Assessing thyroid cancer risk using polygenic risk scores.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- A Truncating Germline Mutation ofThyroid : official journal of the American Thyroid Association · 2020Article
- CRISPR-Cas13a Targeting the Enhancer RNA-SMAD7e Inhibits Bladder Cancer Development BothFrontiers in molecular biosciences · 2020Article
- Oestrogen promotes tumorigenesis of bladder cancer by inducing the enhancer RNA-eGREB1.Journal of cellular and molecular medicine · 2018Article
- Penetrance of a rare familial mutation predisposing to papillary thyroid cancer.Familial cancer · 2018Article
- The Role of NRG1 in the Predisposition to Papillary Thyroid Carcinoma.The Journal of clinical endocrinology and metabolism · 2018Article
- Enhancer RNAs (eRNAs): New Insights into Gene Transcription and Disease Treatment.Journal of Cancer · 2018Review
- HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.Oncotarget · 2017Article
Corrections and comments
- Erratum issued
Authors and funding
27 authors at 6 institutions in 4 countries.
Funding
Abstract
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 detect a novel single-nucleotide mutation in chromosome 4q32 (4q32A>C) in a large pedigree displaying non-medullary thyroid carcinoma (NMTC). This mutation is generally ultra-rare; it was not found in 38 NMTC families, in 2676 sporadic NMTC cases or 2470 controls. The mutation is located in a long-range enhancer element whose ability to bind the transcription factors POU2F and YY1 is significantly impaired, with decreased activity in the presence of the C- allele compared with the wild type A-allele. An enhancer RNA (eRNA) is transcribed in thyroid tissue from this region and is greatly downregulated in NMTC tumors. We suggest that this is an example of an ultra-rare mutation predisposing to thyroid cancer with high penetrance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.