KEGG   VARIANT: 7015v1
Entry
7015v1                      Variant                                
Name
TERT overexpression
Gene
TERT  telomerase reverse transcriptase [KO:K11126]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
promoter mutation C228T
Variation
promoter mutation C250T
Variation
promoter mutation C228A
Variation
promoter mutation C229A
Network
nt06232  Telomerase activity
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
  Element
N00240  TERT-overexpression to telomerase activity
Reference
  Authors
Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA Jr, 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 IeM, Theodorescu D, Torbenson MS, Velculescu VE, Wang TL, Wentzensen N, Wood LD, Zhang M, McLendon RE, Bigner DD, Kinzler KW, Vogelstein B, Papadopoulos N, Yan H
  Title
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal.
  Journal
Proc Natl Acad Sci U S A 110:6021-6 (2013)
DOI:10.1073/pnas.1303607110
Reference
  Authors
Cevik D, Yildiz G, Ozturk M
  Title
Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from different geographical locations.
  Journal
World J Gastroenterol 21:311-7 (2015)
DOI:10.3748/wjg.v21.i1.311
Reference
  Authors
Pezzuto F, Buonaguro L, Buonaguro FM, Tornesello ML
  Title
Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma.
  Journal
Infect Agent Cancer 12:27 (2017)
DOI:10.1186/s13027-017-0138-5
Reference
  Authors
Huang DS, Wang Z, He XJ, Diplas BH, Yang R, Killela PJ, Meng Q, Ye ZY, Wang W, Jiang XT, Xu L, He XL, Zhao ZS, Xu WJ, Wang HJ, Ma YY, Xia YJ, Li L, Zhang RX, Jin T, Zhao ZK, Xu J, Yu S, Wu F, Liang J, Wang S, Jiao Y, Yan H, Tao HQ
  Title
Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation.
  Journal
Eur J Cancer 51:969-76 (2015)
DOI:10.1016/j.ejca.2015.03.010
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