TPMT c.419+94T>A

Variant ID: 6-18139802-A-T

NM_000367.2(TPMT):c.419+94T>A

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Pharmacogenomic Profiling of Cisplatin-Resistant and -Sensitive Human Osteosarcoma Cell Lines by Multimodal Targeted Next Generation Sequencing.

International Journal Of Molecular Sciences
Hattinger, Claudia Maria CM; Casotti, Chiara C; Patrizio, Maria Pia MP; Luppi, Silvia S; Fantoni, Leonardo L; Scotlandi, Katia K; Ibrahim, Toni T; Serra, Massimo M
Publication Date: 2022-10-04

Variant appearance in text: rs12201199
PubMed Link: 36233089
Variant Present in the following documents:
  • Main text
  • ijms-23-11787.pdf
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Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Genes
Cereja Pantoja, Karla Beatriz Cardias KBC; Azevedo, Tereza Cristina de Brito TCB; Carvalho, Darlen Cardoso de DC; Monte, Natasha N; Cohen Paes, Amanda de Nazaré AN; Barros, Maria Clara da Costa MCDC; Vinagre, Lui Wallacy Morikawa Souza LWMS; Freitas, Ana Rosa Sales de ARS; Burbano, Rommel Mario Rodríguez RMR; Assumpção, Paulo Pimentel de PP; Santos, Sidney Emanuel Batista Dos SEBD; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2022-02-10

Variant appearance in text: rs12201199
PubMed Link: 35205374
Variant Present in the following documents:
  • genes-13-00330.pdf
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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: TPMT: 419+94T>A
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences
Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC
Publication Date: 2021-12-10

Variant appearance in text: rs12201199
PubMed Link: 34948113
Variant Present in the following documents:
  • Main text
  • ijms-22-13302.pdf
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Genophenotypic Factors and Pharmacogenomics in Adverse Drug Reactions.

International Journal Of Molecular Sciences
Cacabelos, Ramón R; Naidoo, Vinogran V; Corzo, Lola L; Cacabelos, Natalia N; Carril, Juan C JC
Publication Date: 2021-12-10

Variant appearance in text: rs12201199
PubMed Link: 34948113
Variant Present in the following documents:
  • Main text
  • ijms-22-13302.pdf
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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: TPMT: 419+94T>A
PubMed Link: 33726687
Variant Present in the following documents:
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association of candidate pharmacogenetic markers with platinum-induced ototoxicity: PanCareLIFE dataset.

Data In Brief
Langer, Thorsten T; Clemens, Eva E; Broer, Linda L; Maier, Lara L; Uitterlinden, André G AG; de Vries, Andrica C H ACH; van Grotel, Martine M; Pluijm, Saskia F M SFM; Binder, Harald H; Mayer, Benjamin B; von dem Knesebeck, Annika A; Byrne, Julianne J; van Dulmen-den Broeder, Eline E; Crocco, Marco M; Grabow, Desiree D; Kaatsch, Peter P; Kaiser, Melanie M; Spix, Claudia C; Kenborg, Line L; Winther, Jeanette F JF; Rechnitzer, Catherine C; Hasle, Henrik H; Kepak, Tomas T; van der Kooi, Anne-Lotte F AF; Kremer, Leontien C LC; Kruseova, Jarmila J; Bielack, Stefan S; Sorg, Benjamin B; Hecker-Nolting, Stefanie S; Kuehni, Claudia E CE; Ansari, Marc M; Kompis, Martin M; van der Pal, Heleen J HJ; Parfitt, Ross R; Deuster, Dirk D; Matulat, Peter P; Tillmanns, Amelie A; Tissing, Wim J E WJE; Beck, Jörn D JD; Elsner, Susanne S; Am Zehnhoff-Dinnesen, Antoinette A; van den Heuvel-Eibrink, Marry M MM; Zolk, Oliver O; ,
Publication Date: 2020-10

Variant appearance in text: rs12201199
PubMed Link: 32939381
Variant Present in the following documents:
  • Main text
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The Impact of Genetic Polymorphisms in Organic Cation Transporters on Renal Drug Disposition.

International Journal Of Molecular Sciences
Zazuli, Zulfan Z; Duin, Naut J C B NJCB; Jansen, Katja K; Vijverberg, Susanne J H SJH; Maitland-van der Zee, Anke H AH; Masereeuw, Rosalinde R
Publication Date: 2020-09-10

Variant appearance in text: rs12201199
PubMed Link: 32927790
Variant Present in the following documents:
  • Main text
  • ijms-21-06627.pdf
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Pharmacogenomics as a Tool to Limit Acute and Long-Term Adverse Effects of Chemotherapeutics: An Update in Pediatric Oncology.

Frontiers In Pharmacology
Bernsen, Emma C EC; Hagleitner, Melanie M MM; Kouwenberg, Theodorus W TW; Hanff, Lidwien M LM
Publication Date: 2020

Variant appearance in text: rs12201199
PubMed Link: 32848787
Variant Present in the following documents:
  • Main text
  • fphar-11-01184.pdf
  • Table_1.pdf
View BVdb publication page



Pharmacogenomics and Pharmacogenetics in Osteosarcoma: Translational Studies and Clinical Impact.

International Journal Of Molecular Sciences
Hattinger, Claudia Maria CM; Patrizio, Maria Pia MP; Luppi, Silvia S; Serra, Massimo M
Publication Date: 2020-06-30

Variant appearance in text: rs12201199
PubMed Link: 32629971
Variant Present in the following documents:
  • Main text
  • ijms-21-04659.pdf
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Assessment and Management of Platinum-Related Ototoxicity in Children Treated for Cancer.

Cancers
Romano, Alberto A; Capozza, Michele Antonio MA; Mastrangelo, Stefano S; Maurizi, Palma P; Triarico, Silvia S; Rolesi, Rolando R; Attinà, Giorgio G; Fetoni, Anna Rita AR; Ruggiero, Antonio A
Publication Date: 2020-05-17

Variant appearance in text: rs12201199
PubMed Link: 32429551
Variant Present in the following documents:
  • Main text
View BVdb publication page



MTHFR and VDR Polymorphisms Improve the Prognostic Value of MYCN Status on Overall Survival in Neuroblastoma Patients.

International Journal Of Molecular Sciences
Olivera, Gladys G GG; Yáñez, Yania Y; Gargallo, Pablo P; Sendra, Luis L; Aliño, Salvador F SF; Segura, Vanessa V; Sanz, Miguel Ángel MÁ; Cañete, Adela A; Castel, Victoria V; Font De Mora, Jaime J; Hervás, David D; Berlanga, Pablo P; Herrero, María José MJ
Publication Date: 2020-04-14

Variant appearance in text: rs12201199
PubMed Link: 32295184
Variant Present in the following documents:
  • Main text
  • ijms-21-02714.pdf
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Mechanisms of Cisplatin-Induced Ototoxicity and Prevention.

Seminars In Hearing
Rybak, Leonard P LP; Mukherjea, Debashree D; Ramkumar, Vickram V
Publication Date: 2019-05

Variant appearance in text: rs12201199
PubMed Link: 31036996
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants as Predictive Markers for Ototoxicity and Nephrotoxicity in Patients with Locally Advanced Head and Neck Cancer Treated with Cisplatin-Containing Chemoradiotherapy (The PRONE Study).

Cancers
Driessen, Chantal M CM; Ham, Janneke C JC; Te Loo, Maroeska M; van Meerten, Esther E; van Lamoen, Maurits M; Hakobjan, Marina H MH; Takes, Robert P RP; van der Graaf, Winette T WT; Kaanders, Johannes H JH; Coenen, Marieke J H MJH; van Herpen, Carla M CM
Publication Date: 2019-04-17

Variant appearance in text: rs12201199
PubMed Link: 30999660
Variant Present in the following documents:
  • Main text
  • cancers-11-00551.pdf
View BVdb publication page



The genetic vulnerability to cisplatin ototoxicity: a systematic review.

Scientific Reports
Tserga, Evangelia E; Nandwani, Tara T; Edvall, Niklas K NK; Bulla, Jan J; Patel, Poulam P; Canlon, Barbara B; Cederroth, Christopher R CR; Baguley, David M DM
Publication Date: 2019-03-05

Variant appearance in text: rs12201199
PubMed Link: 30837596
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_40138.pdf
View BVdb publication page



Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology.

The Journal Of Molecular Diagnostics : Jmd
Swart, Marelize M; Stansberry, Wesley M WM; Pratt, Victoria M VM; Medeiros, Elizabeth B EB; Kiel, Patrick J PJ; Shen, Fei F; Schneider, Bryan P BP; Skaar, Todd C TC
Publication Date: 2019-05

Variant appearance in text: TPMT: 419+94T>A; rs12201199
PubMed Link: 30794985
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: TPMT: 419+94T>A; rs12201199
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Genetic and Modifiable Risk Factors Contributing to Cisplatin-induced Toxicities.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Trendowski, Matthew R MR; El Charif, Omar O; Dinh, Paul C PC; Travis, Lois B LB; Dolan, M Eileen ME
Publication Date: 2019-02-15

Variant appearance in text: rs12201199
PubMed Link: 30305294
Variant Present in the following documents:
  • Main text
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs12201199
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



TPMT, COMT and ACYP2 genetic variants in paediatric cancer patients with cisplatin-induced ototoxicity.

Pharmacogenetics And Genomics
Thiesen, Signe S; Yin, Peng P; Jorgensen, Andrea L AL; Zhang, Jieying Eunice JE; Manzo, Valentina V; McEvoy, Laurence L; Barton, Christopher C; Picton, Susan S; Bailey, Simon S; Brock, Penelope P; Vyas, Harish H; Walker, David D; Makin, Guy G; Bandi, Srinivas S; Pizer, Barry B; Hawcutt, Daniel B DB; Pirmohamed, Munir M
Publication Date: 2017-06

Variant appearance in text: rs12201199
PubMed Link: 28445188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics in Pediatric Patients: Towards Personalized Medicine.

Paediatric Drugs
Maagdenberg, Hedy H; Vijverberg, Susanne J H SJ; Bierings, Marc B MB; Carleton, Bruce C BC; Arets, Hubertus G M HG; de Boer, Anthonius A; Maitland-van der Zee, Anke H AH
Publication Date: 2016-08

Variant appearance in text: rs12201199
PubMed Link: 27142473
Variant Present in the following documents:
  • Main text
  • 40272_2016_Article_176.pdf
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Pharmacogenomics--how close/far are we to practising individualized medicine for children?

British Journal Of Clinical Pharmacology
Sing, Chor-Wing CW; Cheung, Ching-Lung CL; Wong, Ian C K IC
Publication Date: 2015-03

Variant appearance in text: rs12201199
PubMed Link: 25855823
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human OCT2 variant c.808G>T confers protection effect against cisplatin-induced ototoxicity.

Pharmacogenomics
Lanvers-Kaminsky, Claudia C; Sprowl, Jason A JA; Malath, Ingrid I; Deuster, Dirk D; Eveslage, Maria M; Schlatter, Eberhard E; Mathijssen, Ron Hj RH; Boos, Joachim J; Jürgens, Heribert H; Am Zehnhoff-Dinnesen, Antionette G AG; Sparreboom, Alex A; Ciarimboli, Giuliano G
Publication Date: 2015

Variant appearance in text: rs12201199
PubMed Link: 25823781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Enabling the curation of your pharmacogenetic study.

Clinical Pharmacology And Therapeutics
McDonagh, E m Em; Whirl-Carrillo, M M; Altman, R B RB; Klein, T E TE
Publication Date: 2015-02

Variant appearance in text: TPMT: 419+94T>A; rs12201199
PubMed Link: 25670512
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of genetic variants in TPMT and COMT associated with cisplatin induced hearing loss in patients with cancer: two new cohorts and a meta-analysis reveal significant heterogeneity between cohorts.

Plos One
Hagleitner, Melanie M MM; Coenen, Marieke J H MJ; Patino-Garcia, Ana A; de Bont, Eveline S J M ES; Gonzalez-Neira, Anna A; Vos, Hanneke I HI; van Leeuwen, Frank N FN; Gelderblom, Hans H; Hoogerbrugge, Peter M PM; Guchelaar, Henk-Jan HJ; Te Loo, Maroeska W M MW
Publication Date: 2014

Variant appearance in text: rs12201199
PubMed Link: 25551397
Variant Present in the following documents:
  • Main text
  • pone.0115869.pdf
View BVdb publication page



Can pharmacogenetics explain efficacy and safety of cisplatin pharmacotherapy?

Frontiers In Genetics
Roco, Angela A; Cayún, Juan J; Contreras, Stephania S; Stojanova, Jana J; Quiñones, Luis L
Publication Date: 2014

Variant appearance in text: rs12201199
PubMed Link: 25452763
Variant Present in the following documents:
  • Main text
  • fgene-05-00391.pdf
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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports
Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD
Publication Date: 2014-07

Variant appearance in text: rs12201199
PubMed Link: 24944790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics and adverse drug reactions in children.

Frontiers In Genetics
Rieder, Michael J MJ; Carleton, Bruce B
Publication Date: 2014

Variant appearance in text: rs12201199
PubMed Link: 24795743
Variant Present in the following documents:
  • Main text
  • fgene-05-00078.pdf
View BVdb publication page



Thiopurine pharmacogenomics: association of SNPs with clinical response and functional validation of candidate genes.

Pharmacogenomics
Matimba, Alice A; Li, Fang F; Livshits, Alina A; Cartwright, Cher S CS; Scully, Stephen S; Fridley, Brooke L BL; Jenkins, Gregory G; Batzler, Anthony A; Wang, Liewei L; Weinshilboum, Richard R; Lennard, Lynne L
Publication Date: 2014-03

Variant appearance in text: rs12201199
PubMed Link: 24624911
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chemotherapy-induced peripheral neurotoxicity and ototoxicity: new paradigms for translational genomics.

Journal Of The National Cancer Institute
Travis, Lois B LB; Fossa, Sophie D SD; Sesso, Howard D HD; Frisina, Robert D RD; Herrmann, David N DN; Beard, Clair J CJ; Feldman, Darren R DR; Pagliaro, Lance C LC; Miller, Robert C RC; Vaughn, David J DJ; Einhorn, Lawrence H LH; Cox, Nancy J NJ; Dolan, M Eileen ME; ,
Publication Date: 2014-03-12

Variant appearance in text: rs12201199
PubMed Link: 24623533
Variant Present in the following documents:
  • Main text
View BVdb publication page



The role of inherited TPMT and COMT genetic variation in cisplatin-induced ototoxicity in children with cancer.

Clinical Pharmacology And Therapeutics
Yang, J J JJ; Lim, J Y S JY; Huang, J J; Bass, J J; Wu, J J; Wang, C C; Fang, J J; Stewart, E E; Harstead, E H EH; E, S S; Robinson, G W GW; Evans, W E WE; Pappo, A A; Zuo, J J; Relling, M V MV; Onar-Thomas, A A; Gajjar, A A; Stewart, C F CF
Publication Date: 2013-08

Variant appearance in text: rs12201199
PubMed Link: 23820299
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children.

Clinical Pharmacology And Therapeutics
Pussegoda, K K; Ross, C J CJ; Visscher, H H; Yazdanpanah, M M; Brooks, B B; Rassekh, S R SR; Zada, Y F YF; Dubé, M-P MP; Carleton, B C BC; Hayden, M R MR; ,
Publication Date: 2013-08

Variant appearance in text: rs12201199
PubMed Link: 23588304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chemotherapy refractory testicular germ cell tumor is associated with a variant in Armadillo Repeat gene deleted in Velco-Cardio-Facial syndrome (ARVCF).

Frontiers In Endocrinology
Fung, Chunkit C; Vaughn, David J DJ; Mitra, Nandita N; Ciosek, Stephanie L SL; Vardhanabhuti, Saran S; Nathanson, Katherine L KL; Kanetsky, Peter A PA
Publication Date: 2012

Variant appearance in text: rs12201199
PubMed Link: 23248619
Variant Present in the following documents:
  • Main text
  • fendo-03-00163.pdf
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Using germline genomics to individualize pediatric cancer treatments.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pinto, Navin N; Cohn, Susan L SL; Dolan, M Eileen ME
Publication Date: 2012-05-15

Variant appearance in text: rs12201199
PubMed Link: 22589487
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomic Research in South Africa: Lessons Learned and Future Opportunities in the Rainbow Nation.

Current Pharmacogenomics And Personalized Medicine
Warnich, Louise L; Drögemöller, Britt I BI; Pepper, Michael S MS; Dandara, Collet C; Wright, Galen E B GE
Publication Date: 2011-09

Variant appearance in text: rs12201199
PubMed Link: 22563365
Variant Present in the following documents:
  • Main text
  • CPPM-9-191.pdf
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Platinum-induced ototoxicity in children: a consensus review on mechanisms, predisposition, and protection, including a new International Society of Pediatric Oncology Boston ototoxicity scale.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Brock, Penelope R PR; Knight, Kristin R KR; Freyer, David R DR; Campbell, Kathleen C M KC; Steyger, Peter S PS; Blakley, Brian W BW; Rassekh, Shahrad R SR; Chang, Kay W KW; Fligor, Brian J BJ; Rajput, Kaukab K; Sullivan, Michael M; Neuwelt, Edward A EA
Publication Date: 2012-07-01

Variant appearance in text: rs12201199
PubMed Link: 22547603
Variant Present in the following documents:
  • Main text
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Role of genetic susceptibility in development of treatment-related adverse outcomes in cancer survivors.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Bhatia, Smita S
Publication Date: 2011-10

Variant appearance in text: rs12201199
PubMed Link: 21980013
Variant Present in the following documents:
  • Main text
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Conference scene: pediatric pharmacogenomics and personalized medicine.

Pharmacogenomics
Leeder, J Steven JS; Lantos, John J; Spielberg, Stephen P SP
Publication Date: 2010-12

Variant appearance in text: rs12201199
PubMed Link: 21142913
Variant Present in the following documents:
  • Main text
View BVdb publication page