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Highly prevalent telomerase reverse transcriptase (TERT) promoter mutations in tumors including glioblastoma and bladder cancer

Highly prevalent mutations upstream of TERT could help guide the diagnosis and development of new treatments for various cancers. TERT promoter mutations were recently associated in about 70%-80% of melanoma samples, but it was unclear how widespread the mutations were in other cancer types. In a survey of TERT promoter sequences from 1,128 tumors covering 48 tumor types, mutations were identified in 20% of tumors, including 79% of myxoid liposarcomas, 44% of hepatocellular carcinomas, 51% of gliomas and 67% of bladder cancers. In 50 patients with glioblastoma multiforme (GBM), a mutated TERT promoter sequence was associated with lower survival than the wild-type promoter sequence. Next steps could include determining if mutations in the TERT promoter could aid the early diagnosis of various cancers.

SciBX 6(13); doi:10.1038/scibx.2013.325
Published online April 4, 2013

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Killela, P.J. et al. Proc. Natl. Acad. Sci. USA; published online March 25, 2013;
Contact: Hai Yan, Duke University School of Medicine, Durham, N.C.
Contact: Bert Vogelstein, The Johns Hopkins University School of Medicine, Baltimore, Md.