TERT c.46_47delinsGC ;(p.S16A)

Variant ID: 5-1295058-CT-GC

NM_198253.2(TERT):c.46_47delinsGC;(p.S16A)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Phase Ib/II Trial of BRAF and EGFR inhibition in BRAFV600E metastatic colorectal cancer and other cancers: EVICT (Erlotinib and Vemurafenib In Combination Trial).

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Tan, Lavinia L; Tran, Ben B; Tie, Jeanne J; Markman, Ben B; Ananda, Sumi S; Tebbutt, Niall C NC; Michael, Michael M; Link, Emma E; Wong, Stephen Q SQ; Chandrashekar, Sushma S; Guinto, Jerick J; Ritchie, David D; Koldej, Rachel R; Solomon, Benjamin J BJ; McArthur, Grant A GA; Hicks, Rodney J RJ; Gibbs, Peter P; Dawson, Sarah-Jane SJ; Desai, Jayesh J
Publication Date: 2023-01-13

Variant appearance in text: TERT: S16A
PubMed Link: 36638198
Variant Present in the following documents:
  • 1017.pdf
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Genome instability is associated with ethnic differences between Asians and Europeans in hepatocellular carcinoma.

Theranostics
Kaya, Neslihan A NA; Chen, Jianbin J; Lai, Hannah H; Yang, Hechuan H; Ma, Liang L; Liu, Xiaodong X; Alvarez, Jacob Santiago JS; Liu, Jin J; Hillmer, Axel M AM; Tai, David D; Sheng, Joe Yeong Poh JYP; Hu, Zheng Z; Chan, Yun Shen YS; Chow, Pierce K H PKH; Mu, Yuguang Y; Wuestefeld, Torsten T; Zhai, Weiwei W
Publication Date: 2022

Variant appearance in text: TERT: S16A
PubMed Link: 35832070
Variant Present in the following documents:
  • thnov12p4703.pdf
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RUV-III-NB: normalization of single cell RNA-seq data.

Nucleic Acids Research
Salim, Agus A; Molania, Ramyar R; Wang, Jianan J; De Livera, Alysha A; Thijssen, Rachel R; Speed, Terence P TP
Publication Date: 2022-09-09

Variant appearance in text: TRT: S16A
PubMed Link: 35758618
Variant Present in the following documents:
  • Main text
  • gkac486.pdf
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Crystal structures of N-terminally truncated telomerase reverse transcriptase from fungi‡.

Nucleic Acids Research
Zhai, Liu-Tao LT; Rety, Stephane S; Chen, Wei-Fei WF; Song, Ze-Yu ZY; Auguin, Daniel D; Sun, Bo B; Dou, Shuo-Xing SX; Xi, Xu-Guang XG
Publication Date: 2021-05-07

Variant appearance in text: TERT: S16A
PubMed Link: 33856462
Variant Present in the following documents:
  • Main text
  • gkab261.pdf
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Comprehensive analysis of cancer breakpoints reveals signatures of genetic and epigenetic contribution to cancer genome rearrangements.

Plos Computational Biology
Cheloshkina, Kseniia K; Poptsova, Maria M
Publication Date: 2021-03

Variant appearance in text: TERT: S16A
PubMed Link: 33647036
Variant Present in the following documents:
  • Main text
  • pcbi.1008749.pdf
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Transposon-mediated telomere destabilization: a driver of genome evolution in the blast fungus.

Nucleic Acids Research
Rahnama, Mostafa M; Novikova, Olga O; Starnes, John H JH; Zhang, Shouan S; Chen, Li L; Farman, Mark L ML
Publication Date: 2020-07-27

Variant appearance in text: TERT: S16A
PubMed Link: 32558886
Variant Present in the following documents:
  • Main text
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Enhanced B7-H4 expression in gliomas with low PD-L1 expression identifies super-cold tumors.

Journal For Immunotherapy Of Cancer
Chen, Di D; Li, Gaopeng G; Ji, Chunxia C; Lu, Qiqi Q; Qi, Ying Y; Tang, Chao C; Xiong, Ji J; Hu, Jian J; Yasar, Fatma Betul Aksoy FBA; Zhang, Yan Y; Hoon, Dave S B DSB; Yao, Yu Y; Zhou, Liangfu L
Publication Date: 2020-05

Variant appearance in text: TERT: S16a
PubMed Link: 32457124
Variant Present in the following documents:
  • Main text
  • jitc-2019-000154.pdf
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Telomere Maintenance Mechanisms Define Clinical Outcome in High-Risk Neuroblastoma.

Cancer Research
Koneru, Balakrishna B; Lopez, Gonzalo G; Farooqi, Ahsan A; Conkrite, Karina L KL; Nguyen, Thinh H TH; Macha, Shawn J SJ; Modi, Apexa A; Rokita, Jo Lynne JL; Urias, Eduardo E; Hindle, Ashly A; Davidson, Heather H; Mccoy, Kristyn K; Nance, Jonas J; Yazdani, Vanda V; Irwin, Meredith S MS; Yang, Shengping S; Wheeler, David A DA; Maris, John M JM; Diskin, Sharon J SJ; Reynolds, C Patrick CP
Publication Date: 2020-06-15

Variant appearance in text: TERT: S16A
PubMed Link: 32291317
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular landscape of glioma in patients with Neurofibromatosis 1.

Nature Medicine
D'Angelo, Fulvio F; Ceccarelli, Michele M; Tala, ; Garofano, Luciano L; Zhang, Jing J; Frattini, Véronique V; Caruso, Francesca P FP; Lewis, Genevieve G; Alfaro, Kristin D KD; Bauchet, Luc L; Berzero, Giulia G; Cachia, David D; Cangiano, Mario M; Capelle, Laurent L; de Groot, John J; DiMeco, Francesco F; Ducray, François F; Farah, Walid W; Finocchiaro, Gaetano G; Goutagny, Stéphane S; Kamiya-Matsuoka, Carlos C; Lavarino, Cinzia C; Loiseau, Hugues H; Lorgis, Véronique V; Marras, Carlo E CE; McCutcheon, Ian I; Nam, Do-Hyun DH; Ronchi, Susanna S; Saletti, Veronica V; Seizeur, Romuald R; Slopis, John J; Suñol, Mariona M; Vandenbos, Fanny F; Varlet, Pascale P; Vidaud, Dominique D; Watts, Colin C; Tabar, Viviane V; Reuss, David E DE; Kim, Seung-Ki SK; Meyronet, David D; Mokhtari, Karima K; Salvador, Hector H; Bhat, Krishna P KP; Eoli, Marica M; Sanson, Marc M; Lasorella, Anna A; Iavarone, Antonio A
Publication Date: 2019-01

Variant appearance in text: TERT: S16a
PubMed Link: 30531922
Variant Present in the following documents:
  • Main text
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A mechanistic classification of clinical phenotypes in neuroblastoma.

Science (New York, N.Y.)
Ackermann, Sandra S; Cartolano, Maria M; Hero, Barbara B; Welte, Anne A; Kahlert, Yvonne Y; Roderwieser, Andrea A; Bartenhagen, Christoph C; Walter, Esther E; Gecht, Judith J; Kerschke, Laura L; Volland, Ruth R; Menon, Roopika R; Heuckmann, Johannes M JM; Gartlgruber, Moritz M; Hartlieb, Sabine S; Henrich, Kai-Oliver KO; Okonechnikov, Konstantin K; Altmüller, Janine J; Nürnberg, Peter P; Lefever, Steve S; de Wilde, Bram B; Sand, Frederik F; Ikram, Fakhera F; Rosswog, Carolina C; Fischer, Janina J; Theissen, Jessica J; Hertwig, Falk F; Singhi, Aatur D AD; Simon, Thorsten T; Vogel, Wenzel W; Perner, Sven S; Krug, Barbara B; Schmidt, Matthias M; Rahmann, Sven S; Achter, Viktor V; Lang, Ulrich U; Vokuhl, Christian C; Ortmann, Monika M; Büttner, Reinhard R; Eggert, Angelika A; Speleman, Frank F; O'Sullivan, Roderick J RJ; Thomas, Roman K RK; Berthold, Frank F; Vandesompele, Jo J; Schramm, Alexander A; Westermann, Frank F; Schulte, Johannes H JH; Peifer, Martin M; Fischer, Matthias M
Publication Date: 2018-12-07

Variant appearance in text: TERT: S16A
PubMed Link: 30523111
Variant Present in the following documents:
  • Main text
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Prioritization and functional assessment of noncoding variants associated with complex diseases.

Genome Medicine
Zhou, Lin L; Zhao, Fangqing F
Publication Date: 2018-07-11

Variant appearance in text: TERT: S16A
PubMed Link: 29996888
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_565.pdf
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A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells.

Plos Genetics
Xie, Li L; Gazin, Claude C; Park, Sung Mi SM; Zhu, Lihua J LJ; Debily, Marie-anne MA; Kittler, Ellen L W EL; Zapp, Maria L ML; Lapointe, David D; Gobeil, Stephane S; Virbasius, Ching-Man CM; Green, Michael R MR
Publication Date: 2012

Variant appearance in text: TERT: S16A
PubMed Link: 23284306
Variant Present in the following documents:
  • Main text
  • pgen.1003151.pdf
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Essential role of Pin1 in the regulation of TRF1 stability and telomere maintenance.

Nature Cell Biology
Lee, Tae Ho TH; Tun-Kyi, Adrian A; Shi, Rong R; Lim, Jormay J; Soohoo, Christina C; Finn, Greg G; Balastik, Martin M; Pastorino, Lucia L; Wulf, Gerburg G; Zhou, Xiao Zhen XZ; Lu, Kun Ping KP
Publication Date: 2009-01

Variant appearance in text: TERT: S16A
PubMed Link: 19060891
Variant Present in the following documents:
  • Main text
View BVdb publication page