ArticleEndocrine-related cancer2013
Highly prevalent TERT promoter mutations in aggressive thyroid cancers.
Article in Endocrine-related cancer, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 331 papers, 7 of them syntheses that pooled it.
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Who cites it
331 citing papers in PubMed, 7 syntheses or guidelines pooled it, 597 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
- Association of TERT promoter mutation with oral squamous cell carcinoma: a systematic review and meta-analysis.Scientific reports · 2025Pooled it
- Risk Factors for TERT Promoter Mutations with Papillary Thyroid Carcinoma Patients: A Meta-Analysis and Systematic Review.Computational and mathematical methods in medicine · 2022Pooled it
- Positive Correlation of Thyroid Nodule Cytology with Molecular Profiling-a Single-Center Experience.Endocrine pathology · 2021Pooled it
- Association between TERT promoter mutations and clinical behaviors in differentiated thyroid carcinoma: a systematic review and meta-analysis.Endocrine · 2020Pooled it
- Clinical, Pathological, and Molecular Characteristics Correlating to the Occurrence of Radioiodine Refractory Differentiated Thyroid Carcinoma: A Systematic Review and Meta-Analysis.Frontiers in oncology · 2020Pooled it
- The Coexistence of Genetic Mutations in Thyroid Carcinoma Predicts Histopathological Factors Associated With a Poor Prognosis: A Systematic Review and Network Meta-Analysis.Frontiers in oncology · 2020Pooled it
- Cytologic and Surgical Correlation ofInternational journal of surgical pathology · 2026Article
- EIF1AX Mutations in thyroid nodules and advanced thyroid carcinoma: a systematic review and meta-analysis.Virchows Archiv : an international journal of pathology · 2026Review
- Treatment strategies for unilateral papillary thyroid carcinoma with ipsilateral cervical lymph node metastasis: a narrative review.Gland surgery · 2026Review
- The impact of RET fusions on radioiodine avidity and prognosis in patients with distant metastatic papillary thyroid cancer.Endocrine · 2026Article
- Microenvironmental Control of Thyroid Cancer Plasticity and Radioiodine Resistance.International journal of molecular sciences · 2026Review
- Value of TERT promoter mutations for early outcomes in papillary thyroid cancer.Endocrine-related cancer · 2026Article
- Active surveillance for low-risk papillary thyroid carcinoma: Integrating guidelines, emerging evidence, and directions.iScience · 2026Review
- Targeting the Warburg Effect in Anaplastic Thyroid Carcinoma: Metabolic Vulnerabilities and Therapeutic Opportunities.International journal of molecular sciences · 2026Review
- Blood circulating C228T TERT gene promoter mutation is an independent factor for the prognosis of HBV-related hepatocellular carcinoma.BMC cancer · 2026Article
- BRAF Mutation and Tumor Growth Kinetics during Active Surveillance of Papillary Thyroid Microcarcinoma: A Single-Center Retrospective Study.Endocrinology and metabolism (Seoul, Korea) · 2026Article
- Re-Analyzing Differentiated High-Grade Thyroid Carcinoma and Elevated Ki-67 Proliferation: A Single-Center Retrospective Study.Journal of clinical medicine · 2026Article
- PKM2-Mediated Glycolytic Reprogramming in Thyroid Cancer: Mechanistic Insights and Therapeutic Potential.Molecules (Basel, Switzerland) · 2026Review
- Role of the ETV5/p38 Signaling Axis in Aggressive Thyroid Cancer Cells.Molecular cancer therapeutics · 2026Article
271 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
Mutations 1 295 228 C>T and 1 295 250 C>T (termed C228T and C250T respectively), corresponding to -124 C>T and -146 C>T from the translation start site in the promoter of the telomerase reverse transcriptase (TERT) gene, have recently been reported in human cancers, but not in thyroid cancers yet. We explored these mutations in thyroid cancers by genomic sequencing of a large number of primary tumor samples. We found the C228T mutation in 0 of 85 (0.0%) benign thyroid tumors, 30 of 257 (11.7%) papillary thyroid cancers (PTC), 9 of 79 (11.4%) follicular thyroid cancers (FTC), 3 of 8 (37.5%) poorly differentiated thyroid cancers (PDTC), 23 of 54 (42.6%) anaplastic thyroid cancers (ATC), and 8 of 12 (66.7%) thyroid cancer cell lines. The C250T mutation was uncommon, but mutually exclusive with the C228T mutation, and the two mutations were collectively found in 11 of 79 (13.9%) FTC, 25 of 54 (46.3%) ATC, and 11 of 12 (91.7%) thyroid cancer cell lines. Among PTC variants, the C228T mutation was found in 4 of 13 (30.8%) tall-cell PTC (TCPTC), 23 of 187 (12.3%) conventional PTC, and 2 of 56 (3.6%) follicular variant PTC samples. No TERT mutation was found in 16 medullary thyroid cancer samples. The C228T mutation was associated with the BRAF V600E mutation in PTC, being present in 19 of 104 (18.3%) BRAF mutation-positive PTC vs 11 of 153 (7.2%) the BRAF mutation-negative PTC samples (P=0.0094). Conversely, BRAF mutation was found in 19 of 30 (63.3%) C228T mutation-positive PTC vs 85 of 227 (37.4%) C228T mutation-negative PTC samples (P=0.0094). We thus for the first time, to our knowledge, demonstrate TERT promoter mutations in thyroid cancers, that are particularly prevalent in the aggressive thyroid cancers TCPTC, PDTC, ATC and BRAF mutation-positive PTC, revealing a novel genetic background for thyroid cancers.
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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.