ArticleThe Journal of investigative dermatology2020
Classifying Melanoma by TERT Promoter Mutational Status.
Article in The Journal of investigative dermatology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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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
18 citing papers in PubMed, 27 citations in OpenAlex.
- BRAF inhibitor resistance in melanoma: from resistance mechanisms to therapeutic innovations.Molecular biomedicine · 2026Review
- Advantages of MelArray over Oncomine Focus Assay for Mutation Analysis in Melanoma.Medicina (Kaunas, Lithuania) · 2026Article
- pTERT mutational status is associated with survival in stage IV melanoma patients receiving first-line immune therapy.European journal of cancer (Oxford, England : 1990) · 2025Article
- Using deep learning to decipher the impact of telomerase promoter mutations on the dynamic metastatic morpholome.PLoS computational biology · 2024Article
- Molecular Characterization of Advanced-Stage Melanomas in Clinical Practice Using a Laboratory-Developed Next-Generation Sequencing Panel.Diagnostics (Basel, Switzerland) · 2024Article
- Pan-cancer experimental characteristic of human transcriptional patterns connected with telomerase reverse transcriptase (Frontiers in genetics · 2024Article
- Article
- Associations between TERT Promoter Mutations and Survival in Superficial Spreading and Nodular Melanomas in a Large Prospective Patient Cohort.The Journal of investigative dermatology · 2022Article
- Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.Neuropathology and applied neurobiology · 2022Review
- TERT Promoter Revertant Mutation Inhibits Melanoma Growth through Intrinsic Apoptosis.Biology · 2022Article
- TERT Promoter Mutations and Telomerase in Melanoma.Journal of oncology · 2022Review
- Anchored Multiplex PCR Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.Frontiers in oncology · 2022Article
- Breast cancer: Muscarinic receptors as new targets for tumor therapy.World journal of clinical oncology · 2021Review
- Profile of Basal Cell Carcinoma Mutations and Copy Number Alterations - Focus on Gene-Associated Noncoding Variants.Frontiers in oncology · 2021Article
- Review
- It's Not All Sunshine: Non-sun-related Melanoma Risk-factors.Acta dermato-venereologica · 2020Review
- TERT Promoter Mutations Differently Correlate with the Clinical Outcome of MAPK Inhibitor-Treated Melanoma Patients.Cancers · 2020Article
- Clinicopathological and Prognostic Values of Telomerase Reverse Transcriptase (Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Although TERT promoter mutations have been associated with a worsened prognosis in melanoma, the relationship between mutation status and downstream telomerase activity and telomere length remains convoluted. Using Sanger sequencing and techniques based on quantitative reverse transcriptase in real time, we evaluated 60 melanoma cell lines for TERT promoter mutational status, copy number, gene expression, and telomere length to provide a comprehensive analysis of the TERT/telomere pathway and establish a classification system whereby the associations between TERT mutations and their downstream molecular manifestations can more easily be ascertained. Mutations at positions -124/125 and -146 were associated with the highest levels of TERT gene expression but had no appreciable impact on absolute telomere length. In contrast, the common variant rs2853669 (at position -245) was significantly associated with longer telomere length via a recessive model in our cohort (P = 0.003). Our results, which are from assays performed on purified melanoma cell lines, suggest that the TERT promoter harbors a more complex mutational landscape than previously thought. Furthermore, the failure of TERT promoter mutations to consistently correlate with TERT expression and telomere length suggests an alternative method whereby tumor cells escape the critical shortening of telomeres.
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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.