TET2 c.945del ;(p.Q317Rfs*30)

Variant ID: 4-106156042-TC-T

NM_001127208.2(TET2):c.945del;(p.Q317Rfs*30)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ
Publication Date: 2022-12-06

Variant appearance in text: TET2: 945del; Q317Rfs*30
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: TET2: 945del
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: TET2: 945del
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Leukemia
Kaisrlikova, Monika M; Vesela, Jitka J; Kundrat, David D; Votavova, Hana H; Dostalova Merkerova, Michaela M; Krejcik, Zdenek Z; Divoky, Vladimir V; Jedlicka, Marek M; Fric, Jan J; Klema, Jiri J; Mikulenkova, Dana D; Stastna Markova, Marketa M; Lauermannova, Marie M; Mertova, Jolana J; Soukupova Maaloufova, Jacqueline J; Jonasova, Anna A; Cermak, Jaroslav J; Belickova, Monika M
Publication Date: 2022-07

Variant appearance in text: TET2: 945delC
PubMed Link: 35505182
Variant Present in the following documents:
  • 41375_2022_1584_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation.

Bmc Cancer
Wu, Xia X; Deng, Jili J; Zhang, Nanchen N; Liu, Xiaoyan X; Zheng, Xue X; Yan, Tianyou T; Ye, Wu W; Gong, Yuping Y
Publication Date: 2022-03-12

Variant appearance in text: TET2: 944delC
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive and unbiased multiparameter high-throughput screening by compaRe finds effective and subtle drug responses in AML models.

Elife
Chalabi Hajkarim, Morteza M; Karjalainen, Ella E; Osipovitch, Mikhail M; Dimopoulos, Konstantinos K; Gordon, Sandra L SL; Ambri, Francesca F; Rasmussen, Kasper Dindler KD; Grønbæk, Kirsten K; Helin, Kristian K; Wennerberg, Krister K; Won, Kyoung-Jae KJ
Publication Date: 2022-02-15

Variant appearance in text: TET2: 945del; Gln317Argfs*30
PubMed Link: 35166670
Variant Present in the following documents:
  • elife-73760-supp3.xlsx, sheet 1
View BVdb publication page



The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Mediterranean Journal Of Hematology And Infectious Diseases
Atli, Emine Ikbal EI; Gurkan, Hakan H; Atli, Engin E; Kirkizlar, Hakki Onur HO; Yalcintepe, Sinem S; Demir, Selma S; Demirci, Ufuk U; Eker, Damla D; Mail, Cisem C; Kalkan, Rasime R; Demir, Ahmet Muzaffer AM
Publication Date: 2021

Variant appearance in text: TET2: 945del
PubMed Link: 33489052
Variant Present in the following documents:
  • Main text
  • mjhid-13-1-e2021013.pdf
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: TET2: 945delC; Q317RfsX30
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics
Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M
Publication Date: 2020-02-04

Variant appearance in text: TET2: 945delC; Q317fs
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: TET2: 944delC
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One
Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR
Publication Date: 2019

Variant appearance in text: TET2: 945delC
PubMed Link: 30840646
Variant Present in the following documents:
  • pone.0212228.s004.pdf
View BVdb publication page



Functional genomic landscape of acute myeloid leukaemia.

Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10

Variant appearance in text: TET2: 945delC; Q317Rfs*30
PubMed Link: 30333627
Variant Present in the following documents:
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 7
  • NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16
View BVdb publication page



appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15

Variant appearance in text: TET2: 945delC; Gln317fs
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 2
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: TET2: 944delC
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page