TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal

Patrick J. Killela, Zachary J. Reitman, Yuchen Jiao, Chetan Bettegowda, Nishant Agrawal, Luis A. Diaz, Allan H. Friedman, Henry Friedman, Gary L Gallia, Beppino C. Giovanella, Arthur P. Grollman, Tong Chuan He, Yiping He, Ralph H Hruban, George Jallo, Nils Mandahl, Alan Keith Meeker, Fredrik Mertens, George J. Netto, B. Ahmed RasheedGregory J Riggins, Thomas A. Rosenquist, Mark Schiffman, Ie Ming Shih, Dan Theodorescu, Michael S. Torbenson, Victor E Velculescu, Tian-Li Wang, Nicolas Wentzensen, Laura Delong Wood, Ming Zhang, Roger E. McLendon, Darell D. Bigner, Kenneth W Kinzler, Bert Vogelstein, Nickolas Papadopoulos, Hai Yan

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Abstract

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 (

Original languageEnglish (US)
Pages (from-to)6021-6026
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume110
Issue number15
DOIs
StatePublished - Apr 9 2013

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ASJC Scopus subject areas

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Cite this

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., Mandahl, N., Meeker, A. K., Mertens, F., Netto, G. J., ... Yan, H. (2013). TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proceedings of the National Academy of Sciences of the United States of America, 110(15), 6021-6026. https://doi.org/10.1073/pnas.1303607110