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

Journal Article (Journal Article)

Malignant 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.

Full Text

Duke Authors

Cited Authors

  • Yan, H; Killela, PJ; Reitman, ZJ; Jiao, Y; Bettegowda, C; Agrawal, N; Diaz, LA; Friedman, AH; Friedman, H; Gallia, GL; Giovanella, BC; Grollman, AP; He, TC; He, Y; Hruban, RH; Jallo, GI; Mandahl, N; Meeker, AK; Mertens, F; Netto, GJ; Rasheed, BA; Riggins, GJ; Rosenquist, TA; Schiffman, M; Shih, I; Theodorescu, D; Torbenson, MS; Velculescu, VE; Wang, TL; Wentzensen, N; Wood, LD; Zhang, M; Healy, P; Yang, R; Diplas, B; Wang, ZH; Greer, P; Zhu, HS; Wang, C; Carpenter, A; Herndon, JE; McLendon, RE; Kinzler, KW; Vogelstein, B; Papadopoulos, N; Bigner, DD

Published Date

  • July 2014

Published In

Volume / Issue

  • 16 Suppl 3 /

Start / End Page

  • iii5 - iii6

PubMed ID

  • 25165359

Pubmed Central ID

  • PMC4144482

Electronic International Standard Serial Number (EISSN)

  • 1523-5866

Digital Object Identifier (DOI)

  • 10.1093/neuonc/nou206.18


  • eng

Conference Location

  • England