ArticleJournal of the National Cancer Institute2014
TERT promoter mutation status as an independent prognostic factor in cutaneous melanoma.
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Article in Journal of the National Cancer Institute, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 130 papers, 2 of them syntheses that pooled it.
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130citing papers in PubMed, 2 pooled it
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Who cites it
130 citing papers in PubMed, 2 syntheses or guidelines pooled it, 254 citations in OpenAlex.
- The role of telomerase reverse transcriptase (TERT) promoter mutations in prognosis in bladder cancer.Bioengineered · 2021Pooled it
- Clinical Characteristics and Prognostic Significance of TERT Promoter Mutations in Cancer: A Cohort Study and a Meta-Analysis.PloS one · 2016Pooled it
- Melanomas arising in blue nevi exhibit absence of TERT promoter mutations, low tumor mutational burden, and high frequency of distant metastases and disease-related mortality: a clinicopathologic and molecular study of 11 cases.Virchows Archiv : an international journal of pathology · 2026Article
- Integrative screening identifies functional variants and VNTRs underlying GWAS signals at the 5p15.33 multi-cancer susceptibility locus.medRxiv : the preprint server for health sciences · 2026Article
- Unmasking the "targetless" illusion: branched clonal evolution ofFrontiers in immunology · 2026Article
- Clinical Significance ofJCO precision oncology · 2025Article
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- TERT Immunohistochemistry in Thin Melanomas Compared to Melanocytic Nevi.Diagnostics (Basel, Switzerland) · 2025Article
- 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
- Article
- Telomeres, telomerase, and cancer: mechanisms, biomarkers, and therapeutics.Experimental hematology & oncology · 2025Review
- Genetic Factors Associated with Clinical Response in Melanoma Patients Treated with Talimogene Laherparapvec: A Single-Institution Retrospective Analysis.Annals of surgical oncology · 2025Article
- Application and recent advances in conventional biomarkers for the prognosis of papillary thyroid carcinoma.Frontiers in oncology · 2025Review
- Metastatic Melanoma to Ovary and Advances in Metastatic Melanoma Treatment: A Case Report.Cureus · 2025Article
- Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer.Pigment cell & melanoma research · 2025Review
- Advances in Melanoma: From Genetic Insights to Therapeutic Innovations.Biomedicines · 2024Review
- Utility and Micro-Costing Framework forDiagnostics (Basel, Switzerland) · 2024Article
- Using deep learning to decipher the impact of telomerase promoter mutations on the dynamic metastatic morpholome.PLoS computational biology · 2024Article
- Therapeutic targeting of PLK1 in TERT promoter-mutant hepatocellular carcinoma.Clinical and translational medicine · 2024Article
- TERT Promoter Mutations Frequency Across Race, Sex, and Cancer Type.The oncologist · 2024Observational
70 more citing papers are in PubMed but not listed here.
Corrections and comments
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- Commented on byResponse.2015
Authors and funding
18 authors at 8 institutions in 3 countries.
Klaus G GriewankDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS). klaus.griewank@uk-essen.de dirk.schadendorf@uk-essen.de.
Rajmohan MuraliDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Joan Anton Puig-ButilleDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Bastian SchillingDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Elisabeth LivingstoneDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Miriam PotronyDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Cristina CarreraDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Tobias SchimmingDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Inga MöllerDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Marion SchwambornDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Antje SuckerDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Uwe HillenDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Celia BadenasDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Josep MalvehyDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Lisa ZimmerDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
André ScheragDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Susana PuigDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS).
Dirk SchadendorfDepartment of Dermatology,University Hospital Essen, West German Cancer Center, University Duisburg-Essen, Essen and the German Cancer Consortium (KGG, BS, EL, TS, IM, MS, AS, UH, LZ, DS), Germany; Department of Pathology and Marie-Josée and Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY (RM); CIBER Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain (JAPB, MP, CC, CB, JM, SP); Department of Dermatology, Hospital Clinic Barcelona, IDIBAPS, Universitat de Barcelona, Barcelona, Spain (CC, JM, SP); Biochemistry and Molecular Genetics Department, Hospital Clinic Barcelona, IDIBAPS, Barcelona, Spain (CB); Integriertes Forschungs- und Behandlungszentrum (IFB) Sepsis und Sepsisfolgen Center for Sepsis Control and Care (CSCC) University Hospital Jena, Jena, Germany (AS). klaus.griewank@uk-essen.de dirk.schadendorf@uk-essen.de.
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESMemorial Sloan Kettering Cancer Center · USMolecular Oncology (United States) · USCentro de Investigación Biomédica en Red · ESInstituto de Salud Carlos III · ESDeutschen Konsortium für Translationale Krebsforschung · DEHospital Clínic de Barcelona · ESUniversitat de Barcelona · ES
Funding
Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0MNCI NIH HHS CA83115NCI NIH HHS R01 CA083115
Abstract
backgroundRecently, TERT promoter mutations were identified at high frequencies in cutaneous melanoma tumor samples and cell lines. The mutations were found to have a UV-signature and to lead to increased TERT gene expression. We analyzed a large cohort of melanoma patients for the presence and distribution of TERT promoter mutations and their association with clinico-pathological characteristics.
methods410 melanoma tumor samples were analyzed by Sanger sequencing for the presence of TERT promoter mutations. An analysis of associations between mutation status and various clinical and pathologic variables was performed.
resultsTERT promoter mutations were identified in 154 (43%) of 362 successfully sequenced melanomas. Mutation frequencies varied between melanoma subtype, being most frequent in melanomas arising in nonacral skin (48%) and melanomas with occult primary (50%), and less frequent in mucosal (23%), and acral (19%) melanomas. Mutations carried a UV signature (C>T or CC>TT). The presence of TERT promoter mutations was associated with factors such as BRAF or NRAS mutation (P < .001), histologic type (P = .002), and Breslow thickness (P < .001). TERT promoter mutation was independently associated with poorer overall survival in patients with nonacral cutaneous melanomas (median survival 80 months vs 291 months for wild-type; hazard ratio corrected for other covariates 2.47; 95% confidence interval [CI] = 1.29 to 4.74; P = .006).
conclusionsUV-induced TERT promoter mutations are one of the most frequent genetic alterations in melanoma, with frequencies varying depending on melanoma subtype. In nonacral cutaneous melanomas, presence of TERT promoter mutations is independently associated with poor prognosis.
Indexed as
MutationCutaneous Malignant MelanomaHumansKaplan-Meier EstimateMelanomaMucous MembraneNeoplasms, Unknown PrimaryOdds RatioPredictive Value of TestsPrognosisPromoter Regions, GeneticSkin NeoplasmsTelomeraseUltraviolet RaysTelomeraseTERT protein, human
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