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

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…

• JS
  James S. McDonnell Foundation
• VF
  V Foundation for Cancer Research
• AB
  Accelerate Brain Cancer Cure
• PB
  Pediatric Brain Tumor Foundation
• VA
  Voices Against Brain Cancer
• FA
  Flight Attendant Medical Research Institute
• LF
  Lustgarten Foundation
• JH
  Johns Hopkins University
• SA
  Swim Across America
• B
  Barncancerfonden
• NI
  National Institutes of Health

  Awards: CA104106, P50DE019032, NS20023, CA075115, CA129825, CA43460, CA57345, CA121113, CA43460, CA57345, CA62924, CA057345
• NC
  National Cancer Institute

  Awards: 5R01-CA140316, CA43460, P50DE019032, CA121113, CA075115, CA057345, CA62924