ArticleJournal of cancer research and clinical oncology2020
TERT promoter hotspot mutations and their relationship with TERT levels and telomere erosion in patients with head and neck squamous cell carcinoma.
Article in Journal of cancer research and clinical oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Association of TERT promoter mutation with oral squamous cell carcinoma: a systematic review and meta-analysis.Scientific reports · 2025Pooled it
- The Association between Telomere Length and Head and Neck Cancer Risk: A Systematic Review and Meta-Analysis.International journal of molecular sciences · 2024Pooled it
- An Accessible Approach to Molecular and Biomarker Testing for Risk Stratification in Oral Cavity Squamous Cell Carcinoma.Head and neck pathology · 2026Article
- Molecular insight into Proliferative Verrucous Leukoplakia: Are TERT promoter mutations a predictive marker?Virchows Archiv : an international journal of pathology · 2026Article
- Barnaculate Carcinoma in Four Patients: Verrucoid Squamous Cell Carcinoma Subtype with TERT and HRAS Oncogenic Variants.Head and neck pathology · 2026Article
- Illuminating the Noncoding Genome in Cancer Using Artificial Intelligence.Cancer research · 2025Review
- Dysregulated microRNA Expression Relevant toLife (Basel, Switzerland) · 2023Article
- Atypical Case of Highly Mutated h-TERT Promoter in Germline Genome from Buccal Mucosa Cancer.Indian journal of clinical biochemistry : IJCB · 2023Article
- Article
- Deciphering the Functions of Telomerase Reverse Transcriptase in Head and Neck Cancer.Biomedicines · 2023Review
- Escape from Cellular Senescence Is Associated with Chromosomal Instability in Oral Pre-Malignancy.Biology · 2023Review
- Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas IdentifiesFrontiers in oncology · 2022Article
- Article
- Negative Prognostic Implication ofIndian journal of surgical oncology · 2021Article
- Article
- Genetic Variants of theCancers · 2020Article
- Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the prevalence of two recurrent somatic mutations (-124 C>T and -146 C>T) within the promoter of the gene encoding telomerase reverse transcriptase (TERT) as well as their relationship with TERT level, telomeres length, and outcome in patients with head and neck squamous cell carcinomas (HNSCCs).
methodsWe evaluate the prevalence of TERT promoter mutations, TERT levels, and telomere length in paired cancer tissue and adjacent mucosa (AM) in a series of HNSCCs.
resultsCancer tissue and AM specimens from 105 patients were analyzed. Telomere length and TERT mRNA levels were estimated using real-time polymerase chain reaction. TERT promoter mutations were assessed using Sanger sequencing. Out of 105 cases, 101 were considered suitable for the analysis. TERT promoter harbored mutations in 12 tumors (11.9%), with -124 C>T and -146 C>T accounting for 83.3% and 16.7% of the alterations, respectively. No mutations were detected in AM samples. The prevalence of TERT promoter mutations was significantly higher in oral cavity SCCs (10 out of 27 tumors; 37%), and telomere length in AM was shorter in patients with tumors carrying TERT promoter mutations than in patients with unmutated TERT promoter cancers (p = 0.023). TERT levels in tumor did not significantly differ according to the mutational status of TERT promoter. No significant association was found between TERT promoter status and overall survival.
conclusionTERT promoter mutations are most likely a late event in tumor development, occurring in a context of critically short telomeres, mostly in patients with oral cavity SCC. TERT levels, but not TERT promoter mutational status impact clinical outcome.
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