TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
Open accessAbstract
Malignant cells, like all actively growing cells, must maintain their telomeres, but genetic mechanisms responsible for telomere maintenance in tumors have only recently been discovered. In particular, mutations of the telomere binding proteins alpha thalassemia/mental retardation syndrome X-linked ( ATRX ) or death-domain associated protein ( DAXX ) have been shown to underlie a telomere maintenance mechanism not involving telomerase (alternative lengthening of telomeres), and point mutations in the promoter of the telomerase reverse transcriptase ( TERT ) gene increase telomerase expression and have been shown to occur in melanomas and a small number of other tumors. To further define the tumor types in which this latter mechanism plays a role, we surveyed 1,230 tumors of 60 different types. We found that tumors could be divided into types with low (<15%) and high (≥15%) frequencies of TERT promoter mutations. The nine TERT-high tumor types almost always originated in tissues with relatively low rates of self renewal, including melanomas, liposarcomas, hepatocellular carcinomas, urothelial carcinomas, squamous cell carcinomas of the tongue, medulloblastomas, and subtypes of gliomas (including 83% of primary glioblastoma, the most common brain tumor type). TERT and ATRX mutations were mutually exclusive, suggesting that these two genetic mechanisms confer equivalent selective growth advantages. In addition to their implications for understanding the relationship between telomeres and tumorigenesis, TERT mutations provide a biomarker that may be useful for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.
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TERT promoter mutations are the most common non-coding mutations in cancer and are found in a growing list of cancers.
“These mutations are the most common mutations in non-coding sequences in cancer and are found in a long, and almost certainly growing, list of cancers153–158.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [154]
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Wang, S., Pike, A. M., Lee, S. S., Strong, M. A., Connelly, C. J., & Greider, C. W. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx561 · Cited by 45 · see citing works
Wang, J., Dayem Ullah, A. Z., & Chelala, C. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky057 · Cited by 35 · see citing works
Schmid, A., Lausch, U., Runkel, A., Kiefer, J., Pauli, T., Boerries, M., Bogner, B., Eisenhardt, S. U., & Braig, D. (2025) · Cancer Medicine · doi:10.1002/cam4.70704 · Cited by 4 · see citing works
- Authors
- Killela, P. J., Reitman, Z. J., Jiao, Y., Bettegowda, C., Agrawal, N., Diaz, L. A., Friedman, A. H., Friedman, H., Gallia, G. L., Giovanella, B. C., Grollman, A. P., He, T.-C., He, Y., Hruban, R. H., Jallo, G. I., Mandahl, N., Meeker, A. K., Mertens, F., Netto, G. J., Rasheed, B. A., Riggins, G. J., Rosenquist, T. A., Schiffman, M., Shih, I.-M., Theodorescu, D., Torbenson, M. S., Velculescu, V. E., Wang, T.-L., Wentzensen, N., Wood, L. D., Zhang, M., McLendon, R. E., Bigner, D. D., Kinzler, K. W., Vogelstein, B., Papadopoulos, N., & Yan, H.
- Affiliations
- Duke University (US)
- Johns Hopkins University (US)
- Departments of cNeurosurgery,
- Christus Stehlin Foundation for Cancer Research (US)
- Stony Brook University (US)
- University of Chicago Medical Center (US)
- Pathology,
- Skåne University Hospital (SE)
- National Institutes of Health (US)
- University of Colorado Cancer Center (US)
- ORCID
- Reitman, Zachary J.
- Jiao, Yuchen
- Bettegowda, Chetan
- Agrawal, Nishant
- Diaz, Luis A.
- Friedman, Henry
- Gallia, Gary L.
- Grollman, Arthur P.
- He, Tong-Chuan
- He, Yiping
- Hruban, Ralph H.
- Jallo, George I.
- Meeker, Alan K.
- Mertens, Fredrik
- Netto, George J.
- Riggins, Gregory J.
- Rosenquist, Thomas A.
- Schiffman, Mark
- Shih, Ie-Ming
- Theodorescu, Dan
- Torbenson, Michael S.
- Velculescu, Victor E.
- Wang, Tian-Li
- Wentzensen, Nicolas
- Wood, Laura D.
- Zhang, Ming
- McLendon, Roger E.
- Bigner, Darell D.
- Kinzler, Kenneth W.
- Vogelstein, Bert
- Papadopoulos, Nickolas
- Yan, Hai
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2013-03-25
- Volume
- 110
- Issue
- 15
- Pages
- 6021-6026
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3625331
- OpenAlex
- W2131117209
- Cited by
- 1,368
- References
- 47
- Citations by year
- 2026: 43 · 2025: 66 · 2024: 62 · 2023: 107 · 2022: 92 · 2021: 110 · 2020: 122 · 2019: 92 · 2018: 121 · 2017: 100 · 2016: 137 · 2015: 133 · 2014: 118 · 2013: 61 · 2012: 2
- FWCI
- 103.94
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- James S. McDonnell Foundation
- V Foundation for Cancer Research
- Accelerate Brain Cancer Cure
- Pediatric Brain Tumor Foundation
- Voices Against Brain Cancer
- Flight Attendant Medical Research Institute
- Lustgarten Foundation
- Johns Hopkins University
- Swim Across America
- Barncancerfonden
- National Institutes of Health (n01cn43309-10-0-1, 5r01ca121113-15, 5p50ns020023-30, CA121113, CA62924, CA43460, CA57345, CA075115, CA104106, CA057345, NS 20023)
- U.S. Public Health Service (NCI R37 011898)
- National Cancer Institute (5R01-CA140316, CA 075115, N01 CN043309, CA 57345, P01CA104106, R01-CA121113, CA-121113, R01CA129825, CA43460, N01 CN43309, R01CA075115, R01CA172380, CA057345, R37CA043460, R01CA148826, R01CA057345, CA 104106, R29CA075115, CA129825, CA172380, 5P50 CA108785, R01CA140316, P50CA062924, R37CA057345, CA 62924)
- National Institute of Neurological Disorders and Stroke (P50-NS020023)
- National Institute of Environmental Health Sciences (ES04068, P01ES004068)
- National Institute of Dental and Craniofacial Research (P50DE019032)
- Topics
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer-related molecular mechanisms research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- TERT promoter mutation, telomerase, telomere maintenance, glioma, glioblastoma, ATRX mutation, alternative lengthening of telomeres, tumor self-renewal, tumor origin, melanoma, liposarcoma, hepatocellular carcinoma, urothelial carcinoma, tongue squamous cell carcinoma, medulloblastoma, biomarkers, tumor classification, outcome prediction
- MeSH terms
- Adult, Aged, Aged, 80 and over, Brain Neoplasms, Female, Glioma, Humans, Male, Middle Aged, Mutation, Promoter Regions, Genetic, Gene Expression Regulation, Neoplastic, Telomere, Telomerase, Genetic Predisposition to Disease, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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