Frequency of TERT promoter mutations in human cancers
Open accessAbstract
Reactivation of telomerase has been implicated in human tumorigenesis, but the underlying mechanisms remain poorly understood. Here we report the presence of recurrent somatic mutations in the TERT promoter in cancers of the central nervous system (43%), bladder (59%), thyroid (follicular cell-derived, 10%) and skin (melanoma, 29%). In thyroid cancers, the presence of TERT promoter mutations (when occurring together with BRAF mutations) is significantly associated with higher TERT mRNA expression, and in glioblastoma we find a trend for increased telomerase expression in cases harbouring TERT promoter mutations. Both in thyroid cancers and glioblastoma, TERT promoter mutations are significantly associated with older age of the patients. Our results show that TERT promoter mutations are relatively frequent in specific types of human cancers, where they lead to enhanced expression of telomerase.
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(2016) · Springer eBooks · doi:10.1007/978-3-319-40618-3 · Cited by 17,280 · see citing works
The 2007 WHO Classification of Tumours of the Central Nervous System
Louis, D. N., Ohgaki, H., Wiestler, O. D., Cavenee, W. K., Burger, P. C., Jouvet, A., Scheithauer, B. W., & Kleihues, P. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0243-4 · Cited by 15,422 · see citing works
World Health Organization Classification of Tumours
Fletcher, C., van den Berg, A., & Molenaar, I. (2002) · Cited by 7,079 · see citing works
Diagnosis of gastrointestinal stromal tumors: A consensus approach
Fletcher, C. D. �., Berman, J. J., Corless, C. L., Gorstein, F., Lasota, J. P., Longley, B. J., Miettinen, M., O’Leary, T. J., Remotti, H. E., Rubin, B. P., et al. (2002) · Human Pathology · doi:10.1053/hupa.2002.123545 · Cited by 3,439 · see citing works
Highly Recurrent <i>TERT</i> Promoter Mutations in Human Melanoma
Huang, F. W., Hodis, E., Xu, M. J., Kryukov, G. V., Chin, L., & Garraway, L. A. (2013) · Science · doi:10.1126/science.1229259 · Cited by 1,816 · see citing works
<i>TERT</i> Promoter Mutations in Familial and Sporadic Melanoma
Horn, S., Figl, A., Rachakonda, P. S., Fischer, C., Sucker, A., Gast, A., Kadel, S., Moll, I., Nagore, E., Hemminki, K., et al. (2013) · Science · doi:10.1126/science.1230062 · Cited by 1,799 · see citing works
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
Raamsdonk, C. D. V., Bezrookove, V., Green, G., Bauer, J. M., Gaugler, L., O’Brien, J. M., Simpson, E. M., Barsh, G. S., & Bastian, B. C. (2008) · Nature · doi:10.1038/nature07586 · Cited by 1,621 · see citing works
Pathology and genetics of tumours of the nervous system.
Kleihues, P., & Cavennee, W. (2000) · International Agency for Research on Cancer eBooks · Cited by 1,432 · see citing works
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., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303607110 · Cited by 1,368 · see citing works
BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC
Soares, P., Trovisco, V., Rocha, A. S., Lima, J. P., Castro, P., Preto, A., Máximo, V., Botelho, T. O., Seruca, R., & Sobrinho-Simões, M. A. (2003) · Oncogene · doi:10.1038/sj.onc.1206706 · Cited by 669 · see citing works
Self-citationRelevance of Urine Telomerase in the Diagnosis of Bladder Cancer
Sanchini, M. A. (2005) · JAMA · doi:10.1001/jama.294.16.2052 · Cited by 112 · see citing works
Prazeres, H., Torres, J., Rodrigues, F., Pinto, M. T., Pastoriza, M. C., Gomes, D., Cameselle‐Teijeiro, J., Vidal, A., Martins, T., Sobrinho-Simões, M. A., et al. (2010) · Oncogene · doi:10.1038/onc.2010.512 · Cited by 87 · see citing works
Self-citationPrazeres, H., Torres, J., Rodrigues, F., Pinto, M. T., Pastoriza, M. C., Gomes, D., Cameselle‐Teijeiro, J., Vidal, A., Martins, T., Sobrinho-Simões, M. A., et al. (2016) · Oncogene · doi:10.1038/onc.2016.143 · Cited by 85 · see citing works
Self-citationGenetic Alterations in Poorly Differentiated and Undifferentiated Thyroid Carcinomas
Soares, P., Lima, J. P., Preto, A., Castro, P., Vinagre, J., Celestino, R., Couto, J. P., Prazeres, H., Eloy, C., Máximo, V., et al. (2011) · Current Genomics · doi:10.2174/138920211798120853 · Cited by 85 · see citing works
Self-citationEvaluation of the mTOR pathway in ocular (uvea and conjunctiva) melanoma
Pópulo, H., Soares, P., Rocha, A. S., Silva, P., & Lopes, J. M. (2010) · Melanoma Research · doi:10.1097/cmr.0b013e32832ccd09 · Cited by 78 · see citing works
Self-citationPrognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age
Lötsch, D., Ghanim, B., Laaber, M., Wurm, G., Weis, S., Lenz, S., Webersinke, G., Pichler, J., Berger, W., & Spiegl‐Kreinecker, S. (2013) · Neuro-Oncology · doi:10.1093/neuonc/nos329 · Cited by 66 · see citing works
Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas
Pópulo, H., Vinagre, J., Lopes, J. M., & Soares, P. (2010) · British Journal of Ophthalmology · doi:10.1136/bjo.2009.174417 · Cited by 43 · see citing works
Self-citationCapezzone, M., Cantara, S., Marchisotta, S., Busonero, G., Formichi, C., Benigni, M., Capuano, S., Toti, P., Pazaitou‐Panayiotou, K., Caruso, G., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-1003 · Cited by 34 · see citing works
Celestino, R., Lima, J. P., Faustino, A., Vinagre, J., Máximo, V., Gouveia, A., Soares, P., & Lopes, J. M. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.205 · Cited by 23 · see citing works
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Flagged first, then by citations
1 of the 20 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Sauter, G. et al. in WHO Classification of Tumors. Pathology and Genetics of Tumors of the Urinary System and Male Genital Organs. (eds Eble, J.N., Sauter, G., Epstein, J.I. & Sesterhenn, I.A.) (IARC Press, 2004).
Cited by
Sorted by citations
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., Martincorena, I., Alexandrov, L. B., Martin, S., Wedge, D. C., et al. (2016) · Nature · doi:10.1038/nature17676 · Cited by 2,218 · see citing works
Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT)
Cheng, D. T., Mitchell, T. N., Zehir, A., Shah, R. H., Benayed, R., Syed, A., Chandramohan, R., Liu, Z. Y., Won, H. H., Scott, S. N., et al. (2015) · The Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2014.12.006 · Cited by 2,119 · see citing works
Somatic mutation in cancer and normal cells
Martincorena, I., & Campbell, P. J. (2015) · Science · doi:10.1126/science.aab4082 · Cited by 1,396 · see citing works
Biologic and Clinical Perspectives on Thyroid Cancer
Fagin, J. A., & Wells, S. A. (2016) · New England Journal of Medicine · doi:10.1056/nejmra1501993 · Cited by 1,009 · see citing works
Brat, D. J., Aldape, K., Colman, H., Holland, E. C., Louis, D. N., Jenkins, R. B., Kleinschmidt-DeMasters, B. K., Perry, A., Reifenberger, G., Stupp, R., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1913-0 · Cited by 904 · see citing works
Ringel, M. D., Sosa, J. A., Baloch, Z. W., Bischoff, L. A., Bloom, G., Brent, G. A., Brock, P. L., Chou, R., Flavell, R. R., Goldner, W. S., et al. (2025) · Thyroid · doi:10.1177/10507256251363120 · Cited by 835 · see citing works
Advances in bladder cancer biology and therapy
Tran, L. L., Xiao, J.-F., Agarwal, N., Duex, J. E., & Theodorescu, D. (2020) · Nature reviews. Cancer · doi:10.1038/s41568-020-00313-1 · Cited by 742 · see citing works
Xing, M., Liu, R., Liu, X., Murugan, A. K., Zhu, G., Zeiger, M. A., Pai, S. I., & Bishop, J. A. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2014.55.5094 · Cited by 734 · see citing works
Roles of telomeres and telomerase in cancer, and advances in telomerase-targeted therapies
Jafri, M. A., Ansari, S. A., Alqahtani, M. H., & Shay, J. W. (2016) · Genome Medicine · doi:10.1186/s13073-016-0324-x · Cited by 716 · see citing works
BRD4 and Cancer: going beyond transcriptional regulation
Donati, B., Lorenzini, E., & Ciarrocchi, A. (2018) · Molecular Cancer · doi:10.1186/s12943-018-0915-9 · Cited by 713 · see citing works
Role of Telomeres and Telomerase in Aging and Cancer
Shay, J. W. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-16-0062 · Cited by 668 · see citing works
Glioblastoma: pathology, molecular mechanisms and markers
Aldape, K., Zadeh, G., Mansouri, S., Reifenberger, G., & von Deimling, A. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1432-1 · Cited by 621 · see citing works
Systematic analysis of telomere length and somatic alterations in 31 cancer types
Barthel, F. P., Wei, W., Tang, M., Martinez-Ledesma, E., Hu, X., Amin, S. B., Akdemir, K. C., Seth, S., Song, X., Wang, Q., et al. (2017) · Nature Genetics · doi:10.1038/ng.3781 · Cited by 614 · see citing works
Quadruplex Nucleic Acids as Novel Therapeutic Targets
Neidle, S. (2016) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.5b01835 · Cited by 573 · see citing works
The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer
Bell, R. J. A., Rube, H. T., Kreig, A., Mancini, A., Fouse, S. D., Nagarajan, R. P., Choi, S., Hong, C., He, D., Pekmezci, M., et al. (2015) · Science · doi:10.1126/science.aab0015 · Cited by 566 · see citing works
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Zhou, J., Theesfeld, C. L., Yao, K., Chen, K. M., Wong, A. K., & Troyanskaya, O. G. (2018) · Nature Genetics · doi:10.1038/s41588-018-0160-6 · Cited by 559 · see citing works
Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge
Sturm, D., Bender, S., Jones, D. T. W., Lichter, P., Grill, J., Becher, O., Hawkins, C., Majewski, J., Jones, C., Costello, J. F., et al. (2014) · Nature Reviews Cancer · doi:10.1038/nrc3655 · Cited by 555 · see citing works
TERT Promoter Mutations Are a Major Indicator of Poor Outcome in Differentiated Thyroid Carcinomas
Melo, M., da Rocha, A. G., Vinagre, J., Batısta, R., Peixoto, J., Tavares, C., Celestino, R., de Almeida, A. P., Salgado, C., Eloy, C., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-3734 · Cited by 552 · see citing works
Self-citationGlioblastoma stem cells: lessons from the tumor hierarchy in a lethal cancerPreprint
Gimple, R. C., Bhargava, S., Dixit, D., & Rich, J. N. (2019) · Genes & Development · doi:10.1101/gad.324301.119 · Cited by 539 · see citing works
Genome-wide analysis of noncoding regulatory mutations in cancer
Weinhold, N., Jacobsen, A., Schultz, N., Sander, C., & Lee, W. (2014) · Nature Genetics · doi:10.1038/ng.3101 · Cited by 484 · see citing works
TERT promoter mutations in thyroid cancer
Liu, R., & Xing, M. (2016) · Endocrine Related Cancer · doi:10.1530/erc-15-0533 · Cited by 447 · see citing works
Whole genome sequencing analysis for cancer genomics and precision medicine
Nakagawa, H., & Fujita, M. (2018) · Cancer Science · doi:10.1111/cas.13505 · Cited by 376 · see citing works
The ETS family of oncogenic transcription factors in solid tumours
Sizemore, G. M., Pitarresi, J. R., Balakrishnan, S., & Ostrowski, M. C. (2017) · Nature reviews. Cancer · doi:10.1038/nrc.2017.20 · Cited by 360 · see citing works
Nault, J., Caldéraro, J., Tommaso, L. D., Balabaud, C. P., Zafrani, É. S., Bioulac‐Sage, P., Roncalli, M. G., & Zucman‐Rossi, J. (2014) · Hepatology · doi:10.1002/hep.27372 · Cited by 352 · see citing works
Regulation of human telomerase in homeostasis and disease
Roake, C. M., & Artandi, S. E. (2020) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-020-0234-z · Cited by 341 · see citing works
FunSeq2: A framework for prioritizing noncoding regulatory variants in cancer
Fu, Y., Liu, Z., Lou, S., Bedford, J., Mu, X. J., Yip, K. Y.-L., Khurana, E., & Gerstein, M. (2014) · Genome biology · doi:10.1186/s13059-014-0480-5 · Cited by 334 · see citing works
Liu, X., Qu, S., Liu, R., Sheng, C., Shi, X., Zhu, G., Murugan, A. K., Guan, H., Yu, H., Wang, Y., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-4048 · Cited by 319 · see citing works
TERT—Regulation and Roles in Cancer Formation
Dratwa, M., Wysoczańska, B., Łacina, P., Kubik, T., & Bogunia‐Kubik, K. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.589929 · Cited by 314 · see citing works
Telomeres and Telomere Length: A General Overview
Srinivas, N., Rachakonda, P. S., & Kumar, R. (2020) · Cancers · doi:10.3390/cancers12030558 · Cited by 313 · see citing works
Stichel, D., Ebrahimi, A., Reuß, D., Schrimpf, D., Ono, T., Shirahata, M., Reifenberger, G., Weller, M., Hänggi, D., Wick, W., et al. (2018) · Acta Neuropathologica · doi:10.1007/s00401-018-1905-0 · Cited by 311 · see citing works
Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system
Koelsche, C., Sahm, F., Capper, D., Reuß, D., Sturm, D., Jones, D., Kool, M., Northcott, P. A., Wiestler, B., Böhmer, K., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1195-5 · Cited by 307 · see citing works
Liu, R., Bishop, J. A., Zhu, G., Zhang, T., Ladenson, P. W., & Xing, M. (2016) · JAMA Oncology · doi:10.1001/jamaoncol.2016.3288 · Cited by 304 · see citing works
Understanding TERT Promoter Mutations: A Common Path to Immortality
Bell, R. J. A., Rube, H. T., Xavier‐Magalhães, A., Costa, B. M., Mancini, A., Song, J. S., & Costello, J. (2016) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-16-0003 · Cited by 303 · see citing works
<i>TERT</i> promoter mutations and telomerase reactivation in urothelial cancer
Borah, S., Xi, L., Zaug, A. J., Powell, N. M., Dancik, G. M., Cohen, S. B., Costello, J. C., Theodorescu, D., & Cech, T. R. (2015) · Science · doi:10.1126/science.1260200 · Cited by 292 · see citing works
Fredriksson, N. J., Ny, L., Nilsson, J. A., & Larsson, E. (2014) · Nature Genetics · doi:10.1038/ng.3141 · Cited by 282 · see citing works
Mechanisms of human telomerase reverse transcriptase (hTERT) regulation: clinical impacts in cancer
Leao, R. R. N., Apolónio, J. D., Lee, D., Figueiredo, A., Tabori, U. Y., & Castelo‐Branco, P. (2018) · Journal of Biomedical Science · doi:10.1186/s12929-018-0422-8 · Cited by 266 · see citing works
Killela, P. J., Pirozzi, C. J., Healy, P. N., Reitman, Z. J., Lipp, E., Rasheed, B. A., Yang, R. R., Diplas, B. H., Wang, Z., Greer, P. K., et al. (2014) · Oncotarget · doi:10.18632/oncotarget.1765 · Cited by 261 · see citing works
Targeting telomerase for cancer therapy
Guterres, A. N., & Villanueva, J. (2020) · Oncogene · doi:10.1038/s41388-020-01405-w · Cited by 256 · see citing works
Diederichs, S., Bartsch, L., Berkmann, J. C., Fröse, K., Schaule, J., Hoppe, C., Iggena, D., Jazmati, D., Karschnia, P., Linsenmeier, M., et al. (2016) · EMBO Molecular Medicine · doi:10.15252/emmm.201506055 · Cited by 252 · see citing works
TERT Promoter Mutation Status as an Independent Prognostic Factor in Cutaneous Melanoma
Griewank, K., Murali, R., Puig‐Butillé, J. A., Schilling, B., Livingstone, E., Potrony, M., Carrera, C., Schimming, T. T., Möller, I., Schwamborn, M., et al. (2014) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/dju246 · Cited by 251 · see citing works
A Pan-cancer Transcriptome Analysis Reveals Pervasive Regulation through Alternative Promoters
Demircioğlu, D., Cukuroglu, E., Kindermans, M., Nandi, T., Calabrese, C., Fonseca, N. A., Kahles, A., Lehmann, K.-V., Stegle, O., Brazma, A., et al. (2019) · Cell · doi:10.1016/j.cell.2019.08.018 · Cited by 250 · see citing works
Zhou, J., Ji, Q., & Li, Q. (2021) · Journal of Experimental & Clinical Cancer Research · doi:10.1186/s13046-021-02130-2 · Cited by 246 · see citing works
The role of telomeres and telomerase in cirrhosis and liver cancer
Nault, J., Ningarhari, M., Rebouissou, S., & Zucman‐Rossi, J. (2019) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-019-0165-3 · Cited by 241 · see citing works
TERT promoter mutations in cancer development
Heidenreich, B., Rachakonda, P. S., Hemminki, K., & Kumar, R. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.11.005 · Cited by 238 · see citing works
Read, J., Wadt, K., & Hayward, N. K. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103150 · Cited by 238 · see citing works
TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas
Simon, M., Hosen, M. I., Gousias, K., Rachakonda, P. S., Heidenreich, B., Gessi, M., Schramm, J., Hemminki, K., Waha, A., & Kumar, R. (2014) · Neuro-Oncology · doi:10.1093/neuonc/nou158 · Cited by 234 · see citing works
Kircher, M., Xiong, C., Martin, B., Schubach, M., Inoue, F., Bell, R. J. A., Costello, J. F., Shendure, J., & Ahituv, N. (2019) · Nature Communications · doi:10.1038/s41467-019-11526-w · Cited by 234 · see citing works
Choi, W., Ochoa, A. E., McConkey, D. J., Aine, M., Höglund, M., Kim, W. Y., Real, F. X., Kiltie, A. E., Milsom, I., Dyrskjøt, L., et al. (2017) · European Urology · doi:10.1016/j.eururo.2017.03.010 · Cited by 233 · see citing works
Recurrent somatic mutations in regulatory regions of human cancer genomes
Melton, C. A., Reuter, J., Spacek, D. V., & Snyder, M. P. (2015) · Nature Genetics · doi:10.1038/ng.3332 · Cited by 230 · see citing works
Reactivation of telomerase in cancer
Akıncılar, S. C., Unal, B., & Tergaonkar, V. (2016) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-016-2146-9 · Cited by 223 · see citing works
Cao, Q., Anyansi, C., Hu, X. S., Xu, L., Xiong, L., Tang, W., Mok, M. T. S., Cheng, C., Fan, X., Gerstein, M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3950 · Cited by 216 · see citing works
Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma
Ho, A. S., Ochoa, A., Jayakumaran, G., Zehir, A., Valero, C., Tepe, J., Makarov, V., Dalin, M. G., He, J., Bailey, M., et al. (2019) · Journal of Clinical Investigation · doi:10.1172/jci128227 · Cited by 212 · see citing works
Chromatin accessibility profiling methods
Minnoye, L., Marinov, G. K., Krausgruber, T., Pan, L., Marand, A. P., Secchia, S., Greenleaf, W. J., Furlong, E. E. M., Zhao, K., Schmitz, R. J., et al. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-020-00008-9 · Cited by 206 · see citing works
Comprehensive Genomic Characterization of RNA-Binding Proteins across Human Cancers
Wang, Z., Li, B., Luo, Y.-X., Lin, Q., Liu, S., Zhang, X., Zhou, H., Yang, J., & Qu, L. (2018) · Cell Reports · doi:10.1016/j.celrep.2017.12.035 · Cited by 205 · see citing works
Grani, G., Lamartina, L., Durante, C., Filetti, S., & Cooper, D. S. (2017) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(17)30325-x · Cited by 203 · see citing works
ORegAnno 3.0: a community-driven resource for curated regulatory annotation
Lesurf, R., Cotto, K. C., Wang, G., Griffith, M., Kasaian, K., Jones, S. J. M., Montgomery, S. B., Griffith, O. L., & The Open Regulatory Annotation Consortium (2016) · Nucleic Acids Research · doi:10.1093/nar/gkv1203 · Cited by 201 · see citing works
Song, Y. S., Lim, J., Choi, H. S., Won, J., Moon, J. H., Cho, S. W., Lee, K. E., Park, Y. J., Yi, K. H., Park, D. J., et al. (2016) · Cancer · doi:10.1002/cncr.29934 · Cited by 198 · see citing works
TERT promoter mutations in telomere biology
Heidenreich, B., & Kumar, R. (2016) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2016.11.002 · Cited by 198 · see citing works
Huang, D., Wang, Z., He, X., Diplas, B. H., Yang, R. R., Killela, P. J., Meng, Q., Ye, Z., Wang, W., Jiang, X., et al. (2015) · European Journal of Cancer · doi:10.1016/j.ejca.2015.03.010 · Cited by 190 · see citing works
Telomerase reverse transcriptase promoter mutations in primary cutaneous melanoma
Heidenreich, B., Nagore, E., Rachakonda, P. S., García‐Casado, Z., Requena, C., Traves, V., Becker, J. C., Soufir, N., Hemminki, K., & Kumar, R. (2014) · Nature Communications · doi:10.1038/ncomms4401 · Cited by 188 · see citing works
High-Throughput Methods in the Discovery and Study of Biomaterials and Materiobiology
Yang, L., Pijuan‐Galito, S., Rho, H. S., Vasilevich, A. S., Eren, A. D., Ge, L., Habibović, P., Alexander, M. R., de Boer, J., Carlier, A., et al. (2021) · Chemical Reviews · doi:10.1021/acs.chemrev.0c00752 · Cited by 187 · see citing works
Stern, J. L., Theodorescu, D., Vogelstein, B., Papadopoulos, N., & Cech, T. R. (2015) · Genes & Development · doi:10.1101/gad.269498.115 · Cited by 187 · see citing works
Genetic alterations in hepatocellular carcinoma: An update
Niu, Z.-S., Niu, X.-J., & Wang, W. (2016) · World Journal of Gastroenterology · doi:10.3748/wjg.v22.i41.9069 · Cited by 182 · see citing works
Luster, M., Aktolun, C., Amendoeira, I., Barczyński, M., Bible, K. C., Duntas, L. H., Elisei, R., Handkiewicz-Junak, D., Hoffmann, M., Jarząb, B., et al. (2018) · Thyroid · doi:10.1089/thy.2017.0129 · Cited by 180 · see citing works
Self-citationGenetics of familial melanoma: 20 years after CDKN 2 A
Aoude, L. G., Wadt, K., Pritchard, A. L., & Hayward, N. K. (2014) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12333 · Cited by 165 · see citing works
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Remke, M., Ramaswamy, V., Peacock, J., Shih, D. J. H., Koelsche, C., Northcott, P. A., Hill, N., Cavalli, F. M. G., Kool, M., Wang, X., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1198-2 · Cited by 164 · see citing works
Paschke, R., Cantara, S., Crescenzi, A., Jarząb, B., Musholt, T. J., & Sobrinho-Simões, M. A. (2017) · European Thyroid Journal · doi:10.1159/000468519 · Cited by 159 · see citing works
Self-citationThe genomic and transcriptional landscape of primary central nervous system lymphoma
Radke, J., Ishaque, N., Koll, R., Gu, Z., Schumann, E., Sieverling, L., Uhrig, S., Hübschmann, D., Toprak, U. H., López, C., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30050-y · Cited by 154 · see citing works
Key signaling pathways in thyroid cancer
Zaballos, M. A., & Santisteban, P. (2017) · Journal of Endocrinology · doi:10.1530/joe-17-0266 · Cited by 153 · see citing works
Revisiting Telomere Shortening in Cancer
Okamoto, K., & Seimiya, H. (2019) · Cells · doi:10.3390/cells8020107 · Cited by 153 · see citing works
Long-Range Chromatin Interactions Drive Mutant TERT Promoter Activation
Akıncılar, S. C., Khattar, E., Boon, P. L. S., Unal, B., Fullwood, M. J., & Tergaonkar, V. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-16-0177 · Cited by 150 · see citing works
Transcription Regulation of the Human Telomerase Reverse Transcriptase (hTERT) Gene
Ramlee, M. K., Wang, J., Toh, W. H., & Li, S. (2016) · Genes · doi:10.3390/genes7080050 · Cited by 149 · see citing works
Guo, Y. A., Chang, M. M., Huang, W., Ooi, W. F., Xing, M., Tan, P. B. O., & Skanderup, A. J. (2018) · Nature Communications · doi:10.1038/s41467-018-03828-2 · Cited by 149 · see citing works
Acquaviva, G., Visani, M., Repaci, A., Rhoden, K. J., de Biase, D., Pession, A., & Tallini, G. (2017) · Histopathology · doi:10.1111/his.13380 · Cited by 146 · see citing works
TERT promoter mutations are associated with poor prognosis and cell immortalization in meningioma
Spiegl‐Kreinecker, S., Lötsch, D., Neumayer, K., Kastler, L., Gojo, J., Pirker, C., Pichler, J., Weis, S., Kumar, R., Webersinke, G., et al. (2018) · Neuro-Oncology · doi:10.1093/neuonc/noy104 · Cited by 146 · see citing works
TERT, BRAF, and NRAS in Primary Thyroid Cancer and Metastatic Disease
Melo, M., da Rocha, A. G., Batısta, R., Vinagre, J., Martins, M. J., Costa, G., Ribeiro, C., Carrilho, F., Leite, V. A. P. H., Lobo, C., et al. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2016-2785 · Cited by 142 · see citing works
Self-citationLiu, T., Yuan, X., & Xu, D. (2016) · Genes · doi:10.3390/genes7070038 · Cited by 141 · see citing works
Genetic landscape of papillary thyroid carcinoma in the Chinese population
Liang, J., Cai, W., Feng, D., Teng, H., Mao, F., Jiang, Y., Hu, S., Li, X., Zhang, Y., Liu, B., et al. (2017) · The Journal of Pathology · doi:10.1002/path.5005 · Cited by 139 · see citing works
Precision oncology in the age of integrative genomics
Kumar‐Sinha, C., & Chinnaiyan, A. M. (2018) · Nature Biotechnology · doi:10.1038/nbt.4017 · Cited by 137 · see citing works
Piscuoglio, S., Ng, C. K. Y., Murray, M. P., Burke, K. A., Edelweiss, M., Geyer, F. C., Macedo, G. S., Inagaki, A., Papanastasiou, A. D., Martelotto, L. G., et al. (2015) · The Journal of Pathology · doi:10.1002/path.4672 · Cited by 136 · see citing works
Job, S., Drašković, I., Burnichon, N., Buffet, A., Cros, J. F., Lépine, C., Vénisse, A., Robidel, E., Verkarre, V., Méatchi, T., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0139 · Cited by 134 · see citing works
Genomic alterations in thyroid cancer: biological and clinical insights
Landa, I., & Cabanillas, M. E. (2023) · Nature Reviews Endocrinology · doi:10.1038/s41574-023-00920-6 · Cited by 134 · see citing works
Telomere Maintenance Mechanisms in Cancer
Gaspar, T. B., Sá, A., Lopes, J. M., Sobrinho-Simões, M. A., Soares, P., & Vinagre, J. (2018) · Genes · doi:10.3390/genes9050241 · Cited by 132 · see citing works
Self-citationMancini, A., Xavier‐Magalhães, A., Woods, W. S., Nguyen, K.-T., Amen, A. M., Hayes, J. L., Fellmann, C., Gapinske, M., McKinney, A., Hong, C., et al. (2018) · Cancer Cell · doi:10.1016/j.ccell.2018.08.003 · Cited by 132 · see citing works
Spiegl‐Kreinecker, S., Lötsch, D., Ghanim, B., Pirker, C., Mohr, T. T., Laaber, M., Weis, S., Olschowski, A., Webersinke, G., Pichler, J., et al. (2015) · Neuro-Oncology · doi:10.1093/neuonc/nov010 · Cited by 131 · see citing works
Telomerase reverse transcriptase promotes cancer cell proliferation by augmenting tRNA expression
Khattar, E., Kumar, P., Liu, C. Y., Akıncılar, S. C., Raju, A., Lakshmanan, M., Maury, J. J. P., Yu, Q., Li, S., Tan, E. Y., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci86042 · Cited by 131 · see citing works
Non-coding driver mutations in human cancer
Elliott, K., & Larsson, E. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00371-z · Cited by 131 · see citing works
TERT promoter mutations are associated with distant metastases in papillary thyroid carcinoma
Gandolfi, G., Ragazzi, M., Frasoldati, A., Piana, S., Ciarrocchi, A., & Sancisi, V. (2015) · European Journal of Endocrinology · doi:10.1530/eje-14-0837 · Cited by 130 · see citing works
TERT Promoter Mutations in Skin Cancer: The Effects of Sun Exposure and X-Irradiation
Pópulo, H., Boaventura, P., Vinagre, J., Batısta, R., Mendes, A., Caldas, R., Pardal, J., Azevedo, F., Honavar, M., Guimarães, I., et al. (2014) · Journal of Investigative Dermatology · doi:10.1038/jid.2014.163 · Cited by 129 · see citing works
Self-citationNon-duplex G-Quadruplex Structures Emerge as Mediators of Epigenetic Modifications
Mukherjee, A. K., Sharma, S., & Chowdhury, S. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.11.001 · Cited by 126 · see citing works
Mirian, C., Duun‐Henriksen, A. K., Juratli, T. A., Sahm, F., Spiegl‐Kreinecker, S., Peyre, M., Biczok, A., Tonn, J., Goutagny, S., Bertero, L., et al. (2020) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2019-322257 · Cited by 126 · see citing works
Jin, L., Chen, E., Dong, S., Cai, Y., Zhang, X., Zhou, Y., Zeng, R., Yang, F., Pan, C., Liu, Y., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.7811 · Cited by 125 · see citing works
Intratumoral heterogeneity and TERT promoter mutations in progressive/higher-grade meningiomas
Juratli, T. A., Thiede, C., Koerner, M. V. A., Tummala, S. S., Daubner, D., Shankar, G. M., Williams, E. A., Martinez‐Lage, M., Soucek, S., Robel, K., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.22650 · Cited by 125 · see citing works
Beginning at the ends: telomeres and human disease
Savage, S. A. (2018) · F1000Research · doi:10.12688/f1000research.14068.1 · Cited by 124 · see citing works
Essential roles of telomerase reverse transcriptase hTERT in cancer stemness and metastasis
Hannen, R., & Bartsch, J. W. (2018) · FEBS Letters · doi:10.1002/1873-3468.13084 · Cited by 124 · see citing works
Telomeres and telomerase in prostate cancer development and therapy
Graham, M. K., & Meeker, A. K. (2017) · Nature Reviews Urology · doi:10.1038/nrurol.2017.104 · Cited by 122 · see citing works
Genomic analysis of liver cancer unveils novel driver genes and distinct prognostic features
Li, X., Xu, W., Kang, W., Wong, S. H., Wang, M., Zhou, Y., Fang, X., Zhang, X., Yang, H., Wong, C. H., et al. (2018) · Theranostics · doi:10.7150/thno.22010 · Cited by 119 · see citing works
Telomerase promoter mutations in cancer: an emerging molecular biomarker?
Vinagre, J., Pinto, V. S., Celestino, R., Reis, M., Pópulo, H., Boaventura, P., Melo, M., Catarino, T. A., Lima, J. P., Lopes, J. M., et al. (2014) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-014-1608-4 · Cited by 118 · see citing works
Self-citationDiverse modes of genomic alteration in hepatocellular carcinoma
Jhunjhunwala, S., Jiang, Z., Stawiski, E. W., Gnad, F., Liu, J., Mayba, O., Du, P., Diao, J., Johnson, S., Wong, K., et al. (2014) · Genome biology · doi:10.1186/s13059-014-0436-9 · Cited by 118 · see citing works
Nrf2-driven TERT regulates pentose phosphate pathway in glioblastoma
Ahmad, F., Dixit, D., Sharma, V., Kumar, A., Joshi, S. D., Sarkar, C., & Sen, E. (2016) · Cell Death and Disease · doi:10.1038/cddis.2016.117 · Cited by 118 · see citing works
- Authors
- Vinagre, J., Almeida, A., Pópulo, H., Batista, R., Lyra, J., Pinto, V., Coelho, R., Celestino, R., Prazeres, H., Lima, L., Melo, M., Rocha, A. G. D., Preto, A., Castro, P., Castro, L., Pardal, F., Lopes, J. M., Santos, L. L., Reis, R. M., Cameselle-Teijeiro, J., Sobrinho-Simões, M., Lima, J., Máximo, V., & Soares, P.
- Affiliations
- Universidade do Porto (PT)
- Instituto Português de Oncologia de Coimbra Francisco Gentil (PT)
- Unidade Local de Saúde de Coimbra (PT)
- Hospital Braga (PT)
- IPO Porto (PT)
- Hospital de Câncer de Barretos (BR)
- Corresponding author
- Soares, Paula
- ORCID
- Venue
- Nature Communications
- Published
- 2013-07-26
- Volume
- 4
- Issue
- 1
- Pages
- 2185-2185
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2170798594
- Cited by
- 898
- References
- 20
- Citations by year
- 2026: 26 · 2025: 45 · 2024: 47 · 2023: 66 · 2022: 71 · 2021: 90 · 2020: 86 · 2019: 73 · 2018: 91 · 2017: 75 · 2016: 95 · 2015: 62 · 2014: 56 · 2013: 10 · 2012: 1
- FWCI
- 51.62
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Nature Communications (publishedVersion)
- PubMed (publishedVersion)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, other-oa)
- Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- RUNA. Repositorio Institucional del Sergas (Servicio Gallego de Salud (SERGAS)) (submittedVersion, other-oa)
- Funders
- Fundação para a Ciência e a Tecnologia (SFRH/BPD/85249/2012, Ciência 2008, SFRH/BD/79135/2011, PIC/IC/83037/2007)
- European Regional Development Fund
- 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 › Aging › Genetics, Aging, and Longevity in Model Organisms
- Keywords
- TERT promoter mutation, telomerase reactivation, somatic mutations, central nervous system cancer, bladder cancer, follicular thyroid carcinoma, melanoma, glioblastoma, BRAF mutation, carcinogenesis, age at diagnosis
- MeSH terms
- Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Cell Transformation, Neoplastic, Child, Female, Humans, Male, Middle Aged, Neoplasms, Promoter Regions, Genetic, Gene Expression Regulation, Neoplastic, Telomerase, Cell Line, Tumor, Mutation Rate
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