TERT c.1573+1310C>T

Variant ID: 5-1292118-G-A

NM_198253.2(TERT):c.1573+1310C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs71595003
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
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Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.

Prostate Cancer And Prostatic Diseases
Huynh-Le, Minh-Phuong MP; Karunamuni, Roshan R; Fan, Chun Chieh CC; Asona, Lui L; Thompson, Wesley K WK; Martinez, Maria Elena ME; Eeles, Rosalind A RA; Kote-Jarai, Zsofia Z; Muir, Kenneth R KR; Lophatananon, Artitaya A; Schleutker, Johanna J; Pashayan, Nora N; Batra, Jyotsna J; Grönberg, Henrik H; Neal, David E DE; Nordestgaard, Børge G BG; Tangen, Catherine M CM; MacInnis, Robert J RJ; Wolk, Alicja A; Albanes, Demetrius D; Haiman, Christopher A CA; Travis, Ruth C RC; Blot, William J WJ; Stanford, Janet L JL; Mucci, Lorelei A LA; West, Catharine M L CML; Nielsen, Sune F SF; Kibel, Adam S AS; Cussenot, Olivier O; Berndt, Sonja I SI; Koutros, Stella S; Sørensen, Karina Dalsgaard KD; Cybulski, Cezary C; Grindedal, Eli Marie EM; Menegaux, Florence F; Park, Jong Y JY; Ingles, Sue A SA; Maier, Christiane C; Hamilton, Robert J RJ; Rosenstein, Barry S BS; Lu, Yong-Jie YJ; Watya, Stephen S; Vega, Ana A; Kogevinas, Manolis M; Wiklund, Fredrik F; Penney, Kathryn L KL; Huff, Chad D CD; Teixeira, Manuel R MR; Multigner, Luc L; Leach, Robin J RJ; Brenner, Hermann H; John, Esther M EM; Kaneva, Radka R; Logothetis, Christopher J CJ; Neuhausen, Susan L SL; De Ruyck, Kim K; Ost, Piet P; Razack, Azad A; Newcomb, Lisa F LF; Fowke, Jay H JH; Gamulin, Marija M; Abraham, Aswin A; Claessens, Frank F; Castelao, Jose Esteban JE; Townsend, Paul A PA; Crawford, Dana C DC; Petrovics, Gyorgy G; van Schaik, Ron H N RHN; Parent, Marie-Élise MÉ; Hu, Jennifer J JJ; Zheng, Wei W; , ; , ; , ; , ; , ; , ; , ; Mills, Ian G IG; Andreassen, Ole A OA; Dale, Anders M AM; Seibert, Tyler M TM
Publication Date: 2022-04

Variant appearance in text: rs71595003
PubMed Link: 35152271
Variant Present in the following documents:
  • 41391_2022_497_MOESM1_ESM.pdf
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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: rs71595003
PubMed Link: 34355204
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
  • mmc2.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: rs71595003
PubMed Link: 34355204
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
  • mmc2.pdf
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: rs71595003
PubMed Link: 29892050
Variant Present in the following documents:
  • 41467_2018_4109_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.

Human Molecular Genetics
Kote-Jarai, Zsofia Z; Saunders, Edward J EJ; Leongamornlert, Daniel A DA; Tymrakiewicz, Malgorzata M; Dadaev, Tokhir T; Jugurnauth-Little, Sarah S; Ross-Adams, Helen H; Al Olama, Ali Amin AA; Benlloch, Sara S; Halim, Silvia S; Russell, Roslin R; Russel, Roslin R; Dunning, Alison M AM; Luccarini, Craig C; Dennis, Joe J; Neal, David E DE; Hamdy, Freddie C FC; Donovan, Jenny L JL; Muir, Ken K; Giles, Graham G GG; Severi, Gianluca G; Wiklund, Fredrik F; Gronberg, Henrik H; Haiman, Christopher A CA; Schumacher, Fredrick F; Henderson, Brian E BE; Le Marchand, Loic L; Lindstrom, Sara S; Kraft, Peter P; Hunter, David J DJ; Gapstur, Susan S; Chanock, Stephen S; Berndt, Sonja I SI; Albanes, Demetrius D; Andriole, Gerald G; Schleutker, Johanna J; Weischer, Maren M; Canzian, Federico F; Riboli, Elio E; Key, Tim J TJ; Travis, Ruth C RC; Campa, Daniele D; Ingles, Sue A SA; John, Esther M EM; Hayes, Richard B RB; Pharoah, Paul P; Khaw, Kay-Tee KT; Stanford, Janet L JL; Ostrander, Elaine A EA; Signorello, Lisa B LB; Thibodeau, Stephen N SN; Schaid, Dan D; Maier, Christiane C; Vogel, Walther W; Kibel, Adam S AS; Cybulski, Cezary C; Lubinski, Jan J; Cannon-Albright, Lisa L; Brenner, Hermann H; Park, Jong Y JY; Kaneva, Radka R; Batra, Jyotsna J; Spurdle, Amanda A; Clements, Judith A JA; Teixeira, Manuel R MR; Govindasami, Koveela K; Guy, Michelle M; Wilkinson, Rosemary A RA; Sawyer, Emma J EJ; Morgan, Angela A; Dicks, Ed E; Baynes, Caroline C; Conroy, Don D; Bojesen, Stig E SE; Kaaks, Rudolf R; Vincent, Daniel D; Bacot, François F; Tessier, Daniel C DC; , ; , ; , ; , ; Easton, Douglas F DF; Eeles, Rosalind A RA
Publication Date: 2013-06-15

Variant appearance in text: rs71595003
PubMed Link: 23535824
Variant Present in the following documents:
  • Main text
  • ddt086.pdf
View BVdb publication page