TERT c.*99C>T

Variant ID: 5-1253744-G-A

NM_198253.2(TERT):c.*99C>T

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Targeted Long-Read Bisulfite Sequencing Identifies Differences in the TERT Promoter Methylation Profiles between TERT Wild-Type and TERT Mutant Cancer Cells.

Cancers
Lee, Seungjae S; Chang, Ti-Cheng TC; Schreiner, Patrick P; Fan, Yiping Y; Agarwal, Neeraj N; Owens, Charles C; Dummer, Reinhard R; Kirkwood, John M JM; Barnhill, Raymond L RL; Theodorescu, Dan D; Wu, Gang G; Bahrami, Armita A
Publication Date: 2022-08-19

Variant appearance in text: rs2853690
PubMed Link: 36011010
Variant Present in the following documents:
  • Main text
  • cancers-14-04018.pdf
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Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease.

Frontiers In Oncology
Tian, Jie J; Wang, Yan Y; Dong, Yingxian Y; Chang, Junke J; Wu, Yongming Y; Chang, Shuai S; Che, Guowei G
Publication Date: 2022

Variant appearance in text: rs2853690
PubMed Link: 35847915
Variant Present in the following documents:
  • Main text
  • fonc-12-946039.pdf
  • DataSheet_1.pdf
  • DataSheet_3.pdf
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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: rs2853690
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
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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: rs2853690
PubMed Link: 34440361
Variant Present in the following documents:
  • Main text
  • genes-12-01188.pdf
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Genetic Variants of the TERT Gene, Telomere Length, and Circulating TERT as Prognostic Markers in Rectal Cancer Patients.

Cancers
Rampazzo, Enrica E; Cecchin, Erika E; Del Bianco, Paola P; Menin, Chiara C; Spolverato, Gaya G; Giunco, Silvia S; Lonardi, Sara S; Malacrida, Sandro S; De Paoli, Antonino A; Toffoli, Giuseppe G; Pucciarelli, Salvatore S; De Rossi, Anita A
Publication Date: 2020-10-25

Variant appearance in text: rs2853690
PubMed Link: 33113831
Variant Present in the following documents:
  • Main text
  • cancers-12-03115.pdf
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Telomere Maintenance Variants and Survival after Colorectal Cancer: Smoking- and Sex-Specific Associations.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Yin, Hang H; Hardikar, Sheetal S; Lindstroem, Sara S; Hsu, Li L; Anderson, Kristin E KE; Banbury, Barbara L BL; Berndt, Sonja I SI; Chan, Andrew T AT; Giovanucci, Edward L EL; Harrison, Tabitha A TA; Joshi, Amit D AD; Nan, Hongmei H; Potter, John D JD; Sakoda, Lori C LC; Slattery, Martha L ML; Schoen, Robert E RE; White, Emily E; Peters, Ulrike U; Newcomb, Polly A PA
Publication Date: 2020-09

Variant appearance in text: rs2853690
PubMed Link: 32586834
Variant Present in the following documents:
  • Main text
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Association of Relative Leucocyte Telomere Length and Gene Single Nucleotide Polymorphisms (TERT, TRF1, TNKS2) in Laryngeal Squamous Cell Carcinoma.

Cancer Genomics & Proteomics
Vaiciulis, Paulius P; Liutkeviciene, Rasa R; Liutkevicius, Vykintas V; Vilkeviciute, Alvita A; Gedvilaite, Greta G; Uloza, Virgilijus V
Publication Date: 2020

Variant appearance in text: rs2853690
PubMed Link: 32576588
Variant Present in the following documents:
  • Main text
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Characterization of Allele-Specific Regulation of Telomerase Reverse Transcriptase in Promoter Mutant Thyroid Cancer Cell Lines.

Thyroid : Official Journal Of The American Thyroid Association
McKelvey, Brittany A BA; Gilpatrick, Timothy T; Wang, Yongchun Y; Timp, Winston W; Umbricht, Christopher B CB; Zeiger, Martha A MA
Publication Date: 2020-10

Variant appearance in text: rs2853690
PubMed Link: 32228178
Variant Present in the following documents:
  • Main text
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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs2853690
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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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: rs2853690
PubMed Link: 31239704
Variant Present in the following documents:
  • Main text
  • ott-12-4309.pdf
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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: rs2853690
PubMed Link: 30737087
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs2853690
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Maternal human telomerase reverse transcriptase variants are associated with preterm labor and preterm premature rupture of membranes.

Plos One
Marrs, Caroline C; Chesmore, Kevin K; Menon, Ramkumar R; Williams, Scott S
Publication Date: 2018

Variant appearance in text: rs2853690
PubMed Link: 29771920
Variant Present in the following documents:
  • Main text
  • pone.0195963.pdf
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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2853690
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs2853690
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
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TERT gene harbors multiple variants associated with pancreatic cancer susceptibility.

International Journal Of Cancer
Campa, Daniele D; Rizzato, Cosmeri C; Stolzenberg-Solomon, Rachael R; Pacetti, Paola P; Vodicka, Pavel P; Cleary, Sean P SP; Capurso, Gabriele G; Bueno-de-Mesquita, H B As HB; Werner, Jens J; Gazouli, Maria M; Butterbach, Katja K; Ivanauskas, Audrius A; Giese, Nathalia N; Petersen, Gloria M GM; Fogar, Paola P; Wang, Zhaoming Z; Bassi, Claudio C; Ryska, Miroslav M; Theodoropoulos, George E GE; Kooperberg, Charles C; Li, Donghui D; Greenhalf, William W; Pasquali, Claudio C; Hackert, Thilo T; Fuchs, Charles S CS; Mohelnikova-Duchonova, Beatrice B; Sperti, Cosimo C; Funel, Niccola N; Dieffenbach, Aida Karina AK; Wareham, Nicholas J NJ; Buring, Julie J; Holcátová, Ivana I; Costello, Eithne E; Zambon, Carlo-Federico CF; Kupcinskas, Juozas J; Risch, Harvey A HA; Kraft, Peter P; Bracci, Paige M PM; Pezzilli, Raffaele R; Olson, Sara H SH; Sesso, Howard D HD; Hartge, Patricia P; Strobel, Oliver O; Małecka-Panas, Ewa E; Visvanathan, Kala K; Arslan, Alan A AA; Pedrazzoli, Sergio S; Souček, Pavel P; Gioffreda, Domenica D; Key, Timothy J TJ; Talar-Wojnarowska, Renata R; Scarpa, Aldo A; Mambrini, Andrea A; Jacobs, Eric J EJ; Jamroziak, Krzysztof K; Klein, Alison A; Tavano, Francesca F; Bambi, Franco F; Landi, Stefano S; Austin, Melissa A MA; Vodickova, Ludmila L; Brenner, Hermann H; Chanock, Stephen J SJ; Delle Fave, Gianfranco G; Piepoli, Ada A; Cantore, Maurizio M; Zheng, Wei W; Wolpin, Brian M BM; Amundadottir, Laufey T LT; Canzian, Federico F
Publication Date: 2015-11-01

Variant appearance in text: rs2853690
PubMed Link: 25940397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome maintenance and human longevity.

Current Opinion In Genetics & Development
Cho, Miook M; Suh, Yousin Y
Publication Date: 2014-06

Variant appearance in text: rs2853690
PubMed Link: 25151201
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.

Respiratory Research
Fernandez, Bridget A BA; Fox, George G; Bhatia, Rick R; Sala, Eric E; Noble, Barbara B; Denic, Nash N; Fernandez, Dzintra D; Duguid, Nigel N; Dohey, Amanda A; Kamel, Fady F; Edwards, Laura L; Mahoney, Krista K; Stuckless, Susan S; Parfrey, Patrick S PS; Woods, Michael O MO
Publication Date: 2012-08-01

Variant appearance in text: rs2853690
PubMed Link: 22853774
Variant Present in the following documents:
View BVdb publication page



Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.

Journal Of The National Cancer Institute
Mocellin, Simone S; Verdi, Daunia D; Pooley, Karen A KA; Landi, Maria T MT; Egan, Kathleen M KM; Baird, Duncan M DM; Prescott, Jennifer J; De Vivo, Immaculata I; Nitti, Donato D
Publication Date: 2012-06-06

Variant appearance in text: rs2853690
PubMed Link: 22523397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Telomere length and TERT functional polymorphisms are not associated with risk of squamous cell carcinoma of the head and neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Liu, Zhensheng Z; Ma, Hongxia H; Wei, Sheng S; Li, Guojun G; Sturgis, Erich M EM; Wei, Qingyi Q
Publication Date: 2011-12

Variant appearance in text: rs2853690
PubMed Link: 21994403
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.

Journal Of Cancer Epidemiology
Van Dyke, Alison L AL; Cote, Michele L ML; Wenzlaff, Angela S AS; Abrams, Judith J; Land, Susan S; Iyer, Priyanka P; Schwartz, Ann G AG
Publication Date: 2009

Variant appearance in text: rs2853690
PubMed Link: 20445798
Variant Present in the following documents:
  • Main text
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Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Publication Date: 2009-01-01

Variant appearance in text: rs2853690
PubMed Link: 19012493
Variant Present in the following documents:
  • Main text
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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs2853690
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page



Genetic variation in five genes important in telomere biology and risk for breast cancer.

British Journal Of Cancer
Savage, S A SA; Chanock, S J SJ; Lissowska, J J; Brinton, L A LA; Richesson, D D; Peplonska, B B; Bardin-Mikolajczak, A A; Zatonski, W W; Szeszenia-Dabrowska, N N; Garcia-Closas, M M
Publication Date: 2007-09-17

Variant appearance in text: rs2853690
PubMed Link: 17848914
Variant Present in the following documents:
  • Main text
  • 6603934a.pdf
View BVdb publication page