• Mutation; HGNC; 11730; TERT; Simple; c.1-124C>T (c.228C>T) (C228T); Zygosity=Unspecified; Note=In promoter (PubMed=24035680).
  

PubMed=10919661
Sarkar S., Julicher K.P., Burger M.S., Della Valle V., Larsen C.-J., Yeager T.R., Grossman T.B., Nickells R.W., Protzel C., Jarrard D.F., Reznikoff C.A.
Different combinations of genetic/epigenetic alterations inactivate the p53 and pRb pathways in invasive human bladder cancers.
Cancer Res. 60:3862-3871(2000)

PubMed=24367658; DOI=10.1371/journal.pone.0084411
Ross R.L., Burns J.E., Taylor C.F., Mellor P., Anderson D.H., Knowles M.A.
Identification of mutations in distinct regions of p85 alpha in urothelial cancer.
PLoS ONE 8:E84411-E84411(2013)

PubMed=24018021; DOI=10.1016/j.eururo.2013.08.052
Allory Y., Beukers W., Sagrera A., Flandez M., Marques M., Marquez M., van der Keur K.A., Dyrskjot L., Lurkin I., Vermeij M., Carrato A., Lloreta J., Lorente J.A., Carrillo-de-Santa-Pau E., Masius R.G., Kogevinas M., Steyerberg E.W., van Tilborg A.A.G., Abas C., Orntoft T.F., Zuiverloon T.C.M., Malats N., Zwarthoff E.C., Real F.X.
Telomerase reverse transcriptase promoter mutations in bladder cancer: high frequency across stages, detection in urine, and lack of association with outcome.
Eur. Urol. 65:360-366(2014)

PubMed=24035680; DOI=10.1016/j.eururo.2013.08.057
Hurst C.D., Platt F.M., Knowles M.A.
Comprehensive mutation analysis of the TERT promoter in bladder cancer and detection of mutations in voided urine.
Eur. Urol. 65:367-369(2014)

PubMed=25997541; DOI=10.1186/s12864-015-1450-3
Earl J., Rico D., Carrillo-de-Santa-Pau E., Rodriguez-Santiago B., Mendez-Pertuz M., Auer H., Gomez G., Grossman H.B., Pisano D.G., Schulz W.A., Perez-Jurado L.A., Carrato A., Theodorescu D., Chanock S.J., Valencia A., Real F.X.
The UBC-40 Urothelial Bladder Cancer cell line index: a genomic resource for functional studies.
BMC Genomics 16:403.1-403.16(2015)

PubMed=29732388; DOI=10.3233/BLC-180167
Zuiverloon T.C.M., de Jong F.C., Costello J.C., Theodorescu D.
Systematic review: characteristics and preclinical uses of bladder cancer cell lines.
Bladder Cancer 4:169-183(2018)