TERT c.2593C>T ;(p.R865C)

Variant ID: 5-1266640-G-A

NM_198253.2(TERT):c.2593C>T;(p.R865C)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Molecular genetics of idiopathic pulmonary fibrosis.

Vavilovskii Zhurnal Genetiki I Selektsii
Mustafin, R N RN
Publication Date: 2022-05

Variant appearance in text: TERT: 2593C>T
PubMed Link: 35795226
Variant Present in the following documents:
  • Main text
  • VJGB-26-2237.pdf
View BVdb publication page



Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Molecular Cancer Research : Mcr
Pham, Minh-Tam MT; Gupta, Anuj A; Gupta, Harshath H; Vaghasia, Ajay A; Skaist, Alyza A; Garrison, McKinzie A MA; Coulter, Jonathan B JB; Haffner, Michael C MC; Zheng, S Lilly SL; Xu, Jianfeng J; DeStefano Shields, Christina C; Isaacs, William B WB; Wheelan, Sarah J SJ; Nelson, William G WG; Yegnasubramanian, Srinivasan S
Publication Date: 2022-07-06

Variant appearance in text: TERT: 2593C>T; R865C
PubMed Link: 35452513
Variant Present in the following documents:
  • mcr-21-0683_supplementary_tables_1-13_suppst1-13.xlsx, sheet 7
View BVdb publication page



Fibroblast Senescence in Idiopathic Pulmonary Fibrosis.

Frontiers In Cell And Developmental Biology
Lin, Yifan Y; Xu, Zhihao Z
Publication Date: 2020

Variant appearance in text: TRT: R865C
PubMed Link: 33324646
Variant Present in the following documents:
  • Main text
  • fcell-08-593283.pdf
View BVdb publication page



Telomere Abnormalities in the Pathobiology of Idiopathic Pulmonary Fibrosis.

Journal Of Clinical Medicine
Bilgili, Hasancan H; Białas, Adam J AJ; Górski, Paweł P; Piotrowski, Wojciech J WJ
Publication Date: 2019-08-16

Variant appearance in text: TERT: Arg865Cys
PubMed Link: 31426295
Variant Present in the following documents:
  • Main text
  • jcm-08-01232.pdf
View BVdb publication page



Olaparib is effective in combination with, and as maintenance therapy after, first-line endocrine therapy in prostate cancer cells.

Molecular Oncology
Feiersinger, Gertrud E GE; Trattnig, Kristina K; Leitner, Peter D PD; Guggenberger, Fabian F; Oberhuber, Alexander A; Peer, Sarah S; Hermann, Martin M; Skvortsova, Ira I; Vrbkova, Jana J; Bouchal, Jan J; Culig, Zoran Z; Santer, Frédéric R FR
Publication Date: 2018-04

Variant appearance in text: TERT: 2593C>T; R865C
PubMed Link: 29465803
Variant Present in the following documents:
  • MOL2-12-561-s006.xlsx, sheet 3
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TERT: R865C
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TERT: 2593C>T; R865C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Medical genetics and epigenetics of telomerase.

Journal Of Cellular And Molecular Medicine
Koziel, Jillian E JE; Fox, Melanie J MJ; Steding, Catherine E CE; Sprouse, Alyssa A AA; Herbert, Brittney-Shea BS
Publication Date: 2011-03

Variant appearance in text: TERT: R865C
PubMed Link: 21323862
Variant Present in the following documents:
  • Main text
  • jcmm0015-0457.pdf
View BVdb publication page



Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Plos One
Diaz de Leon, Alberto A; Cronkhite, Jennifer T JT; Katzenstein, Anna-Luise A AL; Godwin, J David JD; Raghu, Ganesh G; Glazer, Craig S CS; Rosenblatt, Randall L RL; Girod, Carlos E CE; Garrity, Edward R ER; Xing, Chao C; Garcia, Christine Kim CK
Publication Date: 2010-05-19

Variant appearance in text: TERT: R865C
PubMed Link: 20502709
Variant Present in the following documents:
  • Main text
  • pone.0010680.pdf
View BVdb publication page



Adult-onset pulmonary fibrosis caused by mutations in telomerase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Tsakiri, Kalliopi D KD; Cronkhite, Jennifer T JT; Kuan, Phillip J PJ; Xing, Chao C; Raghu, Ganesh G; Weissler, Jonathan C JC; Rosenblatt, Randall L RL; Shay, Jerry W JW; Garcia, Christine Kim CK
Publication Date: 2007-05-01

Variant appearance in text: TERT: 2593C>T; R865C
PubMed Link: 17460043
Variant Present in the following documents:
  • Main text
View BVdb publication page