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Rengyun Liu and Mingzhao Xing

landmark finding of mutations in the promoter of the TERT gene in melanoma early in 2013 through whole-genome sequencing ( Horn et al . 2013 , Huang et al . 2013 ), which were quickly found also in other human cancers, such as bladder cancer and

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Xiaoli Liu, Justin Bishop, Yuan Shan, Sara Pai, Dingxie Liu, Avaniyapuram Kannan Murugan, Hui Sun, Adel K El-Naggar and Mingzhao Xing

telomerase reverse transcriptase (TERT). Promoter mutations in the TERT gene on chromosome 5 have recently been reported in melanomas ( Horn et al . 2013 , Huang et al . 2013 ). Two TERT promoter mutations, 1 295 228 C>T and 1 295 250 C>T (termed C228T

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Rengyun Liu and Mingzhao Xing

required to achieve this. Two recently discovered mutations in the promoter of the gene for telomerase reverse transcriptase (TERT) in thyroid cancer show promise in this regard – chr5:1 295 228C>T and chr5:1 295 250C>T (termed herein as C228T and C250T

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Tiantian Liu, Taylor C Brown, C Christofer Juhlin, Adam Andreasson, Na Wang, Martin Bäckdahl, James M Healy, Manju L Prasad, Reju Korah, Tobias Carling, Dawei Xu and Catharina Larsson

activated in carcinogenesis. Recently, TERT promoter mutations have been reported in human malignancies, which create de novo ETS1-binding motifs stimulating the TERT transcription. This genetic event is thus proposed as a novel mechanism activating

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Ebtesam Qasem, Avaniyapuram Kannan Murugan, Hindi Al-Hindi, Mingzhao Xing, Mai Almohanna, Meshael Alswailem and Ali S Alzahrani

are rare, TERT promoter mutations (C288T and C250T) have recently been described in many types of human cancers, including the follicular cell-derived TC ( Landa et al . 2013 , Liu et al . 2013 , Vinagre et al . 2013 ). They were also found to

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Tae Hyuk Kim, Young-Eun Kim, Soomin Ahn, Ji-Youn Kim, Chang-Seok Ki, Young Lyun Oh, Kyunga Kim, Jae Won Yun, Woong-Yang Park, Jun-Ho Choe, Jung-Han Kim, Jee Soo Kim, Sun Wook Kim and Jae Hoon Chung

reverse transcriptase ( TERT ) promoter in 71% of melanoma genomes, and these somatic mutations enhanced promoter activity by two- to four-fold ( Horn et al. 2013 , Huang et al. 2013 ), which might immortalize proliferative cancer cells by maintaining

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Felix Haglund, Carl Christofer Juhlin, Taylor Brown, Mehran Ghaderi, Tiantian Liu, Adam Stenman, Andrii Dinets, Manju Prasad, Reju Korah, Dawei Xu, Tobias Carling and Catharina Larsson

telomerase complex and is largely responsible for maintaining the telomere length. Mutations in the promoter of the TERT gene may cause alterations in transcription factor binding sites, which leads to TERT overexpression and telomerase activation, as was

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Johan O Paulsson, Ninni Mu, Ivan Shabo, Na Wang, Jan Zedenius, Catharina Larsson and C Christofer Juhlin

& Bacchetti 1997 , Daniel et al. 2012 ). One important underlying mechanism of telomerase activation constitutes of hot spot mutations (denoted C228T and C250T) in the TERT promoter, which has been shown to upregulate TERT mRNA expression by creating

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Young Shin Song, Seong-Keun Yoo, Hwan Hee Kim, Gyeongseo Jung, Ah-Reum Oh, Ji-Young Cha, Su-jin Kim, Sun Wook Cho, Kyu Eun Lee, Jeong-Sun Seo and Young Joo Park

, and both canonical and noncanonical roles may contribute to tumorigenesis and cancer progression ( Low & Tergaonkar 2013 , Li & Tergaonkar 2014 ). The promoter region of the TERT gene has two hot spots susceptible to a point mutation: chr5, 1

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Thomas G Papathomas, Lindsey Oudijk, Ellen C Zwarthoff, Edward Post, Floor A Duijkers, Max M van Noesel, Leo J Hofland, Patrick J Pollard, Eamonn R Maher, David F Restuccia, Richard A Feelders, Gaston J H Franssen, Henri J Timmers, Stefan Sleijfer, Wouter W de Herder, Ronald R de Krijger, Winand N M Dinjens and Esther Korpershoek

demonstrated that activation of telomerase via transcriptional TERT upregulation can be caused by mutations in the core promoter region of TERT (Chr5) with 1 295 28 C>T, 1 295 250 C>T being the two most frequent mutation hotspots ( Horn et al . 2013 , Huang