ArticleThe Journal of molecular diagnostics : JMD2021
A Pan-Cancer Study of Somatic TERT Promoter Mutations and Amplification in 30,773 Tumors Profiled by Clinical Genomic Sequencing.
Article in The Journal of molecular diagnostics : JMD, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Nondiffuse p16 Expression in HPV-Associated and HPV-Independent Cervical Squamous Cell Carcinomas: A Single-Institution Case Series With Emphasis on Histopathologic Features and Molecular Alterations.The American journal of surgical pathology · 2026Article
- Fibrosarcoma of bone masquerading as fibrous dysplasia: diagnostic pitfall and molecular correlates of aggressive behavior.Journal of pathology and translational medicine · 2026Article
- Contrasting Features of Papillary and Chromophobe Renal Cell Carcinoma Revealed by Whole-Genome Sequencing.Molecular cancer research : MCR · 2026Article
- TERT rs10069690 variant is linked to reduced cholangiocarcinoma incidence but adverse prognosis in patients undergoing resection.eGastroenterology · 2026Article
- Effect of co-occurring mutations inFrontiers in immunology · 2026Article
- From Transcription Factors Dysregulation to Malignancy: In Silico Reconstruction of Cancer's Foundational Drivers-The Eternity Triangle.International journal of molecular sciences · 2025Article
- The immortality mechanism of TERT promoter mutant cancers is self-reinforcing and reversible.Molecular cell · 2025Article
- TERT Amplification a Risk Stratification Marker in Papillary Thyroid Carcinoma, Significantly Correlated with Tumor Recurrence and Survival.Endocrine pathology · 2025Article
- An adjusted droplet digital PCR assay for quantification of vector copy number in CAR-T cell and TCR-T cell products.Immuno-oncology technology · 2025Article
- Quantifying TERT promoter mutations in tumor-derived DNA shed into the oral cavity as a potential biomarker for oral squamous cell carcinoma.Frontiers in oncology · 2025Article
- Mechanistic basis of atypical TERT promoter mutations.Nature communications · 2024Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Deep-Learning Model for Tumor-Type Prediction Using Targeted Clinical Genomic Sequencing Data.Cancer discovery · 2024Article
- Article
- The regulations of telomerase reverse transcriptase (TERT) in cancer.Cell death & disease · 2024Review
- Article
- Pan-cancer experimental characteristic of human transcriptional patterns connected with telomerase reverse transcriptase (Frontiers in genetics · 2024Article
- SMARCAL1: Expanding the spectrum of genes associated with alternative lengthening of telomeres.Neuro-oncology · 2023Article
- Review
- Telomerase deficiency and dysfunctional telomeres in the lung tumor microenvironment impair tumor progression in NSCLC mouse models and patient-derived xenografts.Cell death and differentiation · 2023Article
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Authors and funding
21 authors at 1 institution in 1 country.
Funding
Abstract
TERT gene promoter mutations are known in multiple cancer types. Other TERT alterations remain poorly characterized. Sequencing data from 30,773 tumors analyzed by a hybridization capture next-generation sequencing assay (Memorial Sloan Kettering Cancer Center Integrated Mutation Profiling of Actionable Cancer Targets) were analyzed for the presence of TERT alterations. Promoter rearrangements (500 bases upstream of the transcriptional start site), hypermethylation (n = 57), and gene expression (n = 155) were evaluated for a subset of cases. Mutually exclusive and recurrent promoter mutations were identified at three hot spots upstream of the transcriptional start site in 11.3% of cases (-124: 74%; -146: 24%; and -138: <2%). Mutually exclusive amplification events were identified in another 2.3% of cases, whereas mutually exclusive rearrangements proximal to the TERT gene were seen in 24 cases. The highest incidence of TERT promoter mutations was seen in cutaneous melanoma (82%), whereas amplification events significantly outnumbered promoter mutations in well-differentiated/dedifferentiated liposarcoma (14.1% versus 2.4%) and adrenocortical carcinoma (13.6% versus 4.5%). Gene expression analysis suggests that the highest levels of gene expression are seen in cases with amplifications and rearrangements. Hypermethylation events upstream of the TERT coding sequence were not mutually exclusive with known pathogenic alterations. Studies aimed at defining the prevalence and prognostic impact of TERT alterations should incorporate other pathogenic TERT alterations as these may impact telomerase function.
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Registered trials
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