ArticleCancer medicine2019
Spectrum of TERT promoter mutations and mechanisms of activation in thyroid cancer.
Article in Cancer medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 77 citations in OpenAlex.
- Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series.Diagnostic cytopathology · 2026Article
- Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence.Cancer research · 2025Review
- TERT Amplification a Risk Stratification Marker in Papillary Thyroid Carcinoma, Significantly Correlated with Tumor Recurrence and Survival.Endocrine pathology · 2025Article
- The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma.Diagnostic pathology · 2025Article
- The impact of C216T and hot spot mutations of the TERT promoter on the clinicopathologic characteristics and S100A10 expression in papillary thyroid carcinoma: a comparative study.Diagnostic pathology · 2025Article
- Minor role of TP53 and TERT promoter mutations in medullary thyroid carcinoma: report of new cases and revision of the literature.Endocrine · 2025Review
- Review
- Beginning at the ends: telomere and telomere-based cancer therapeutics.Molecular genetics and genomics : MGG · 2024Review
- Prediction of the Aggressive Clinical Course of Papillary Thyroid Carcinoma Based on Fine Needle Aspiration Biopsy Molecular Testing.International journal of molecular sciences · 2024Article
- Recent Trends and Potential of Radiotherapy in the Treatment of Anaplastic Thyroid Cancer.Biomedicines · 2024Review
- Lymph Node Metastasis in Papillary Thyroid Carcinoma, A Study of BRAF V600E and TERT Promoter Mutations.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas.Diagnostics (Basel, Switzerland) · 2024Article
- Article
- Loss of CDH16 expression is a strong independent predictor for lymph node metastasis in Middle Eastern papillary thyroid cancer.Scientific reports · 2023Article
- Comprehensive Genomic Profiling in Predictive Testing of Cancer.Physiological research · 2023Article
- Mechanistic Insights of Thyroid Cancer Progression.Endocrinology · 2023Review
- Review
- InTERTwined: howCurrent opinion in endocrine and metabolic research · 2023Article
- Approach to risk stratification for papillary thyroid carcinoma based on molecular profiling: institutional analysis.BJS open · 2023Article
- [Clinical significance of multigene assay in papillary thyroid carcinoma].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundReactivation of telomerase reverse transcriptase (TERT) is an important event in cancer. Two hotspot mutations in the TERT promoter region, c.-124C > T (C228T) and c.-146C > T (C250T), occur in various cancer types including thyroid cancer. They generate de novo binding sites for E-twenty-six (ETS) transcription factors causing increased TERT transcription. The aim of this study was to search for novel TERT promoter mutations and additional mechanisms of TERT activation in thyroid cancer.
methodsWe studied 198 papillary thyroid carcinomas (PTCs), 34 follicular thyroid carcinomas (FTCs), 40 Hürthle cell carcinomas (HCCs), 14 poorly differentiated/anaplastic thyroid carcinomas (PDTC/ATC), and 15 medullary thyroid carcinomas (MTCs) for mutations in an -424 bp to +64 bp region of TERT. The luciferase reporter assay was used to functionally characterize the identified alterations. Copy number variations (CNVs) in the TERT region were analyzed using TaqMan copy number assay and validated with fluorescence in situ hybridization (FISH).
resultsWe detected the hotspot c.-124C > T and c.-146C > T mutations in 7% PTC, 18% FTC, 25% HCC, and 86% PDTC/ATC. One PTC carried a c.-124C > A mutation. Furthermore, we identified two novel mutations resulting in the formation of de novo ETS-binding motifs: c.-332C > T in one MTC and c.-104_-83dup in one PTC. These genetic alterations, as well as other detected mutations, led to a significant increase in TERT promoter activity when assayed using luciferase reporter system. In addition, 5% of thyroid tumors were found to have ≥3 copies of TERT.
conclusionsThis study confirms the increased prevalence of TERT promoter mutations and CNV in advanced thyroid cancers and describes novel functional alterations in the TERT gene promoter, including a point mutation and small duplication. These mutations, as well as TERT copy number alterations, may represent an additional mechanism of TERT activation in thyroid cancer.
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