TERT c.3324G>C ;(p.P1108=)

Variant ID: 5-1253918-C-G

NM_198253.2(TERT):c.3324G>C;(p.P1108=)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Genetic Polymorphisms of the Telomerase Reverse Transcriptase Gene in Relation to Prostate Tumorigenesis, Aggressiveness and Mortality: A Cross-Ancestry Analysis.

Cancers
Zhan, Yongle Y; Ruan, Xiaohao X; Liu, Jiacheng J; Huang, Da D; Huang, Jingyi J; Huang, Jinlun J; Chun, Tsun Tsun Stacia TTS; Ng, Ada Tsui-Lin AT; Wu, Yishuo Y; Wei, Gonghong G; Jiang, Haowen H; Xu, Danfeng D; Na, Rong R
Publication Date: 2023-05-08

Variant appearance in text: rs35033501
PubMed Link: 37174115
Variant Present in the following documents:
  • Main text
  • cancers-15-02650.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TERT: P1108P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
View BVdb publication page



Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs35033501
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Germline mutations among Polish patients with acute myeloid leukemia.

Hereditary Cancer In Clinical Practice
Bąk, Aneta A; Skonieczka, Katarzyna K; Jaśkowiec, Anna A; Junkiert-Czarnecka, Anna A; Heise, Marta M; Pilarska-Deltow, Maria M; Potoczek, Stanisław S; Czyżewska, Maria M; Haus, Olga O
Publication Date: 2021-10-12

Variant appearance in text: TERT: 3324G>A; Pro1108=; rs35033501
PubMed Link: 34641967
Variant Present in the following documents:
  • Main text
  • 13053_2021_Article_200.pdf
View BVdb publication page



Mechanism of Human Telomerase Reverse Transcriptase (hTERT) Regulation and Clinical Impacts in Leukemia.

Genes
Yik, Mot Yee MY; Azlan, Adam A; Rajasegaran, Yaashini Y; Rosli, Aliaa A; Yusoff, Narazah Mohd NM; Moses, Emmanuel Jairaj EJ
Publication Date: 2021-07-30

Variant appearance in text: rs35033501
PubMed Link: 34440361
Variant Present in the following documents:
  • Main text
  • genes-12-01188.pdf
View BVdb publication page



Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.

Hgg Advances
Chen, Hongjie H; Majumdar, Arunabha A; Wang, Lu L; Kar, Siddhartha S; Brown, Kevin M KM; Feng, Helian H; Turman, Constance C; Dennis, Joe J; Easton, Douglas D; Michailidou, Kyriaki K; Simard, Jacques J; , ; Bishop, Timothy T; Cheng, Iona C IC; Huyghe, Jeroen R JR; Schmit, Stephanie L SL; , ; , ; , ; O'Mara, Tracy A TA; Spurdle, Amanda B AB; , ; Gharahkhani, Puya P; Schumacher, Johannes J; Jankowski, Janusz J; Gockel, Ines I; , ; Bondy, Melissa L ML; Houlston, Richard S RS; Jenkins, Robert B RB; Melin, Beatrice B; , ; Lesseur, Corina C; Ness, Andy R AR; Diergaarde, Brenda B; Olshan, Andrew F AF; , ; Amos, Christopher I CI; Christiani, David C DC; Landi, Maria T MT; McKay, James D JD; , ; Brossard, Myriam M; Iles, Mark M MM; Law, Matthew H MH; MacGregor, Stuart S; , ; Beesley, Jonathan J; Jones, Michelle R MR; Tyrer, Jonathan J; Winham, Stacey J SJ; , ; Klein, Alison P AP; Petersen, Gloria G; Li, Donghui D; Wolpin, Brian M BM; , ; , ; Eeles, Rosalind A RA; Haiman, Christopher A CA; Kote-Jarai, Zsofia Z; Schumacher, Fredrick R FR; , ; , ; , ; , ; , ; Brennan, Paul P; Chanock, Stephen J SJ; Gaborieau, Valerie V; Purdue, Mark P MP; , ; Pharoah, Paul P; Hung, Rayjean J RJ; Amundadottir, Laufey T LT; Kraft, Peter P; Pasaniuc, Bogdan B; Lindström, Sara S
Publication Date: 2021-07-08

Variant appearance in text: rs35033501
PubMed Link: 34355204
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals.

Hgg Advances
Chen, Hongjie H; Majumdar, Arunabha A; Wang, Lu L; Kar, Siddhartha S; Brown, Kevin M KM; Feng, Helian H; Turman, Constance C; Dennis, Joe J; Easton, Douglas D; Michailidou, Kyriaki K; Simard, Jacques J; , ; Bishop, Timothy T; Cheng, Iona C IC; Huyghe, Jeroen R JR; Schmit, Stephanie L SL; , ; , ; , ; O'Mara, Tracy A TA; Spurdle, Amanda B AB; , ; Gharahkhani, Puya P; Schumacher, Johannes J; Jankowski, Janusz J; Gocke, Ines I; , ; Bondy, Melissa L ML; Houlston, Richard S RS; Jenkins, Robert B RB; Melin, Beatrice B; , ; Lesseur, Corina C; Ness, Andy R AR; Diergaarde, Brenda B; Olshan, Andrew F AF; , ; Amos, Christopher I CI; Christiani, David C DC; Landi, Maria T MT; McKay, James D JD; , ; Brossard, Myriam M; Iles, Mark M MM; Law, Matthew H MH; MacGregor, Stuart S; , ; Beesley, Jonathan J; Jones, Michelle R MR; Tyrer, Jonathan J; Winham, Stacey J SJ; , ; Klein, Alison P AP; Petersen, Gloria G; Li, Donghui D; Wolpin, Brian M BM; , ; , ; Eeles, Rosalind A RA; Haiman, Christopher A CA; Kote-Jarai, Zsofia Z; Schumacher, Fredrick R FR; , ; Brennan, Paul P; Chanock, Stephen J SJ; Gaborieau, Valerie V; Purdue, Mark P MP; , ; Pharoah, Paul P; Hung, Rayjean J RJ; Amundadottir, Laufey T LT; Kraft, Peter P; Pasaniuc, Bogdan B; Lindström, Sara S
Publication Date: 2021-07-08

Variant appearance in text: rs35033501
PubMed Link: 34355204
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Telomere Dysfunction in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Jebaraj, Billy Michael Chelliah BMC; Stilgenbauer, Stephan S
Publication Date: 2020

Variant appearance in text: rs35033501
PubMed Link: 33520723
Variant Present in the following documents:
  • Main text
  • fonc-10-612665.pdf
View BVdb publication page



Variability within the human TERT gene, telomere length and predisposition to chronic lymphocytic leukemia.

Oncotargets And Therapy
Wysoczanska, Barbara B; Dratwa, Marta M; Gebura, Katarzyna K; Mizgala, Jakub J; Mazur, Grzegorz G; Wrobel, Tomasz T; Bogunia-Kubik, Katarzyna K
Publication Date: 2019

Variant appearance in text: rs35033501
PubMed Link: 31239704
Variant Present in the following documents:
  • Main text
  • ott-12-4309.pdf
View BVdb publication page



Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine
Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V
Publication Date: 2019-03

Variant appearance in text: TERT: P1108P; rs35033501
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
View BVdb publication page



Mendelian Randomization and mediation analysis of leukocyte telomere length and risk of lung and head and neck cancers.

International Journal Of Epidemiology
Kachuri, Linda L; Saarela, Olli O; Bojesen, Stig Egil SE; Davey Smith, George G; Liu, Geoffrey G; Landi, Maria Teresa MT; Caporaso, Neil E NE; Christiani, David C DC; Johansson, Mattias M; Panico, Salvatore S; Overvad, Kim K; Trichopoulou, Antonia A; Vineis, Paolo P; Scelo, Ghislaine G; Zaridze, David D; Wu, Xifeng X; Albanes, Demetrius D; Diergaarde, Brenda B; Lagiou, Pagona P; Macfarlane, Gary J GJ; Aldrich, Melinda C MC; Tardón, Adonina A; Rennert, Gad G; Olshan, Andrew F AF; Weissler, Mark C MC; Chen, Chu C; Goodman, Gary E GE; Doherty, Jennifer A JA; Ness, Andrew R AR; Bickeböller, Heike H; Wichmann, H-Erich HE; Risch, Angela A; Field, John K JK; Teare, M Dawn MD; Kiemeney, Lambertus A LA; van der Heijden, Erik H F M EHFM; Carroll, June C JC; Haugen, Aage A; Zienolddiny, Shanbeh S; Skaug, Vidar V; Wünsch-Filho, Victor V; Tajara, Eloiza H EH; Ayoub Moysés, Raquel R; Daumas Nunes, Fabio F; Lam, Stephen S; Eluf-Neto, Jose J; Lacko, Martin M; Peters, Wilbert H M WHM; Le Marchand, Loïc L; Duell, Eric J EJ; Andrew, Angeline S AS; Franceschi, Silvia S; Schabath, Matthew B MB; Manjer, Jonas J; Arnold, Susanne S; Lazarus, Philip P; Mukeriya, Anush A; Swiatkowska, Beata B; Janout, Vladimir V; Holcatova, Ivana I; Stojsic, Jelena J; Mates, Dana D; Lissowska, Jolanta J; Boccia, Stefania S; Lesseur, Corina C; Zong, Xuchen X; McKay, James D JD; Brennan, Paul P; Amos, Christopher I CI; Hung, Rayjean J RJ
Publication Date: 2019-06-01

Variant appearance in text: rs35033501
PubMed Link: 30059977
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Nature Communications
Dadaev, Tokhir T; Saunders, Edward J EJ; Newcombe, Paul J PJ; Anokian, Ezequiel E; Leongamornlert, Daniel A DA; Brook, Mark N MN; Cieza-Borrella, Clara C; Mijuskovic, Martina M; Wakerell, Sarah S; Olama, Ali Amin Al AAA; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Benlloch, Sara S; Ahmed, Mahbubl M; Goh, Chee C; Sheng, Xin X; Zhang, Zhuo Z; Muir, Kenneth K; Govindasami, Koveela K; Lophatananon, Artitaya A; Stevens, Victoria L VL; Gapstur, Susan M SM; Carter, Brian D BD; Tangen, Catherine M CM; Goodman, Phyllis P; Thompson, Ian M IM; Batra, Jyotsna J; Chambers, Suzanne S; Moya, Leire L; Clements, Judith J; Horvath, Lisa L; Tilley, Wayne W; Risbridger, Gail G; Gronberg, Henrik H; Aly, Markus M; Nordström, Tobias T; Pharoah, Paul P; Pashayan, Nora N; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Sipeky, Csilla C; Auvinen, Anssi A; Albanes, Demetrius D; Weinstein, Stephanie S; Wolk, Alicja A; Hakansson, Niclas N; West, Catharine C; Dunning, Alison M AM; Burnet, Neil N; Mucci, Lorelei L; Giovannucci, Edward E; Andriole, Gerald G; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Koutros, Stella S; Freeman, Laura E Beane LEB; Sorensen, Karina Dalsgaard KD; Orntoft, Torben Falck TF; Borre, Michael M; Maehle, Lovise L; Grindedal, Eli Marie EM; Neal, David E DE; Donovan, Jenny L JL; Hamdy, Freddie C FC; Martin, Richard M RM; Travis, Ruth C RC; Key, Tim J TJ; Hamilton, Robert J RJ; Fleshner, Neil E NE; Finelli, Antonio A; Ingles, Sue Ann SA; Stern, Mariana C MC; Rosenstein, Barry B; Kerns, Sarah S; Ostrer, Harry H; Lu, Yong-Jie YJ; Zhang, Hong-Wei HW; Feng, Ninghan N; Mao, Xueying X; Guo, Xin X; Wang, Guomin G; Sun, Zan Z; Giles, Graham G GG; Southey, Melissa C MC; MacInnis, Robert J RJ; FitzGerald, Liesel M LM; Kibel, Adam S AS; Drake, Bettina F BF; Vega, Ana A; Gómez-Caamaño, Antonio A; Fachal, Laura L; Szulkin, Robert R; Eklund, Martin M; Kogevinas, Manolis M; Llorca, Javier J; Castaño-Vinyals, Gemma G; Penney, Kathryn L KL; Stampfer, Meir M; Park, Jong Y JY; Sellers, Thomas A TA; Lin, Hui-Yi HY; Stanford, Janet L JL; Cybulski, Cezary C; Wokolorczyk, Dominika D; Lubinski, Jan J; Ostrander, Elaine A EA; Geybels, Milan S MS; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Weisher, Maren M; Bisbjerg, Rasmus R; Røder, Martin Andreas MA; Iversen, Peter P; Brenner, Hermann H; Cuk, Katarina K; Holleczek, Bernd B; Maier, Christiane C; Luedeke, Manuel M; Schnoeller, Thomas T; Kim, Jeri J; Logothetis, Christopher J CJ; John, Esther M EM; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Neuhausen, Susan L SL; Steele, Linda L; Ding, Yuan Chun YC; De Ruyck, Kim K; De Meerleer, Gert G; Ost, Piet P; Razack, Azad A; Lim, Jasmine J; Teo, Soo-Hwang SH; Lin, Daniel W DW; Newcomb, Lisa F LF; Lessel, Davor D; Gamulin, Marija M; Kulis, Tomislav T; Kaneva, Radka R; Usmani, Nawaid N; Slavov, Chavdar C; Mitev, Vanio V; Parliament, Matthew M; Singhal, Sandeep S; Claessens, Frank F; Joniau, Steven S; Van den Broeck, Thomas T; Larkin, Samantha S; Townsend, Paul A PA; Aukim-Hastie, Claire C; Gago-Dominguez, Manuela M; Castelao, Jose Esteban JE; Martinez, Maria Elena ME; Roobol, Monique J MJ; Jenster, Guido G; van Schaik, Ron H N RHN; Menegaux, Florence F; Truong, Thérèse T; Koudou, Yves Akoli YA; Xu, Jianfeng J; Khaw, Kay-Tee KT; Cannon-Albright, Lisa L; Pandha, Hardev H; Michael, Agnieszka A; Kierzek, Andrzej A; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Lindstrom, Sara S; Turman, Constance C; Ma, Jing J; Hunter, David J DJ; Riboli, Elio E; Siddiq, Afshan A; Canzian, Federico F; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Kraft, Peter P; , ; Freedman, Matthew M; Wiklund, Fredrik F; Chanock, Stephen S; Henderson, Brian E BE; Easton, Douglas F DF; Haiman, Christopher A CA; Eeles, Rosalind A RA; Conti, David V DV; Kote-Jarai, Zsofia Z
Publication Date: 2018-06-11

Variant appearance in text: TERT: P1108P; rs35033501
PubMed Link: 29892050
Variant Present in the following documents:
  • 41467_2018_4109_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: rs35033501
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
  • ncomms12475-s3.xlsx, sheet 1
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: TERT: P1108P; rs35033501
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: TERT: P1108P; rs35033501
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk.

Carcinogenesis
Pande, Mala M; Spitz, Margaret R MR; Wu, Xifeng X; Gorlov, Ivan P IP; Chen, Wei V WV; Amos, Christopher I CI
Publication Date: 2011-10

Variant appearance in text: rs35033501
PubMed Link: 21771723
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Zee, Robert Y L RY; Ridker, Paul M PM; Chasman, Daniel I DI
Publication Date: 2011-01-14

Variant appearance in text: rs35033501
PubMed Link: 20937264
Variant Present in the following documents:
  • Main text
View BVdb publication page