TET2 c.5152G>T ;(p.V1718L)

Variant ID: 4-106196819-G-T

NM_001127208.2(TET2):c.5152G>T;(p.V1718L)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


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: 5152G>T; V1718L
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



The genomic analysis brings a new piece to the molecular jigsaw of idiopathic erythrocytosis.

Experimental Hematology & Oncology
Zagaria, Antonella A; Tarantini, Francesco F; Orsini, Paola P; Anelli, Luisa L; Cumbo, Cosimo C; Coccaro, Nicoletta N; Tota, Giuseppina G; Minervini, Crescenzio Francesco CF; Parciante, Elisa E; Conserva, Maria Rosa MR; Redavid, Immacolata I; Ricco, Alessandra A; Attolico, Immacolata I; Specchia, Giorgina G; Musto, Pellegrino P; Albano, Francesco F
Publication Date: 2022-08-28

Variant appearance in text: TET2: Val1718Leu; rs142312318
PubMed Link: 36031623
Variant Present in the following documents:
  • 40164_2022_301_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.

Haematologica
Lemoine, Sandrine S; Mornet, Clelia C; Quintin-Roue, Isabelle I; Rousselet, Marie-Christine MC; Cottin, Laurane L; Georgeais, Aurélie A; Dubouis, Ludovic L; Boyer, Françoise F; Orvain, Corentin C; Caillon, Clara C; Renard, Maxime M; Le Brun, Valoris V; Le Clech, Lenaig L; Ianotto, Jean-Christophe JC; Génin, Emmanuelle E; Burroni, Barbara B; Ugo, Valérie V; Luque Paz, Damien D; Lippert, Eric E
Publication Date: 2022-11-01

Variant appearance in text: TET2: V1718L
PubMed Link: 35833299
Variant Present in the following documents:
  • 2022_280917_LEMOINE_SUPPL.pdf
View BVdb publication page



CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia.

Science Translational Medicine
Grey, William W; Rio-Machin, Ana A; Casado, Pedro P; Grönroos, Eva E; Ali, Sara S; Miettinen, Juho J JJ; Bewicke-Copley, Findlay F; Parsons, Alun A; Heckman, Caroline A CA; Swanton, Charles C; Cutillas, Pedro R PR; Gribben, John J; Fitzgibbon, Jude J; Bonnet, Dominique D
Publication Date: 2022-06-22

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 35731890
Variant Present in the following documents:
  • EMS146397-supplement-Supplementary_Tables.xlsx, sheet 4
View BVdb publication page



Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers
González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC
Publication Date: 2022-05-18

Variant appearance in text: TET2: V1718L
PubMed Link: 35626091
Variant Present in the following documents:
  • cancers-14-02487.pdf
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: 5152G>T; V1718L; rs142312318
PubMed Link: 35279121
Variant Present in the following documents:
  • 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics
Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T
Publication Date: 2021-12-16

Variant appearance in text: TET2: V1718L
PubMed Link: 34915860
Variant Present in the following documents:
  • 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
  • 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Bmc Genomics
Anwar, Nida N; Memon, Faheem Ahmed FA; Shahid, Saba S; Shakeel, Muhammad M; Irfan, Muhammad M; Arshad, Aisha A; Naz, Arshi A; Ujjan, Ikram Din ID; Shamsi, Tahir T
Publication Date: 2021-12-16

Variant appearance in text: TET2: V1718L
PubMed Link: 34915860
Variant Present in the following documents:
  • 12864_2021_8221_MOESM4_ESM.xlsx, sheet 1
  • 12864_2021_8221_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: TET2: V1718L
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: TET2: 5152G>T; V1718L; rs142312318
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.

Jco Precision Oncology
Zhao, Xiaonan X; Kotch, Chelsea C; Fox, Elizabeth E; Surrey, Lea F LF; Wertheim, Gerald B GB; Baloch, Zubair W ZW; Lin, Fumin F; Pillai, Vinodh V; Luo, Minjie M; Kreiger, Portia A PA; Pogoriler, Jennifer E JE; Linn, Rebecca L RL; Russo, Pierre A PA; Santi, Mariarita M; Resnick, Adam C AC; Storm, Phillip B PB; Hunger, Stephen P SP; Bauer, Andrew J AJ; Li, Marilyn M MM
Publication Date: 2021

Variant appearance in text: TET2: V1718L
PubMed Link: 34036219
Variant Present in the following documents:
  • po-5-e2000250.pdf
View BVdb publication page



Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: TET2: V1718L
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1
  • 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A dual-genotype oligoastrocytoma with histologic, molecular, radiological and time-course features.

Acta Neuropathologica Communications
Nasrallah, Mac Lean P MLP; Desai, Arati A; O'Rourke, Donald M DM; Surrey, Lea F LF; Stein, Joel M JM
Publication Date: 2020-07-20

Variant appearance in text: TET2: 5152G>T; Val1718Leu; rs142312318
PubMed Link: 32690110
Variant Present in the following documents:
  • 40478_2020_998_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Impact of the Injection Site on Growth Characteristics, Phenotype and Sensitivity towards Cytarabine of Twenty Acute Leukaemia Patient-Derived Xenograft Models.

Cancers
Schueler, Julia J; Greve, Gabriele G; Lenhard, Dorothée D; Pantic, Milena M; Edinger, Anna A; Oswald, Eva E; Lübbert, Michael M
Publication Date: 2020-05-25

Variant appearance in text: TET2: V1718L
PubMed Link: 32466316
Variant Present in the following documents:
  • cancers-12-01349-s001.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: TET2: 5152G>T; V1718L; rs142312318
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Haematologica
Vantyghem, Sophie S; Peterlin, Pierre P; Thépot, Sylvain S; Ménard, Audrey A; Dubruille, Viviane V; Debord, Camille C; Guillaume, Thierry T; Garnier, Alice A; Le Bourgeois, Amandine A; Wuilleme, Soraya S; Godon, Catherine C; Theisen, Olivier O; Eveillard, Marion M; Delaunay, Jacques J; Maisonneuve, Hervé H; Morineau, Nadine N; Villemagne, Bruno B; Vigouroux, Stéphane S; Subiger, François F; Lestang, Elsa E; Loirat, Marion M; Parcelier, Anne A; Godmer, Pascal P; Mercier, Mélanie M; Trebouet, Adrien A; Luque Paz, Damien D; Le Calloch, Ronan R; Le Clech, Lenaig L; Bossard, Céline C; Moreau, Anne A; Ugo, Valérie V; Hunault, Mathilde M; Moreau, Philippe P; Le Gouill, Steven S; Chevallier, Patrice P; Béné, Marie C MC; Le Bris, Yannick Y
Publication Date: 2021-03-01

Variant appearance in text: TET2: 5152G>T; Val1718Leu
PubMed Link: 32241844
Variant Present in the following documents:
  • 2019_242677_VANTYGHEM_SUPPL.pdf
View BVdb publication page



Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.

Leukemia
Arindrarto, Wibowo W; Borràs, Daniel M DM; de Groen, Ruben A L RAL; van den Berg, Redmar R RR; Locher, Irene J IJ; van Diessen, Saskia A M E SAME; van der Holst, Rosalie R; van der Meijden, Edith D ED; Honders, M Willy MW; de Leeuw, Rick H RH; Verlaat, Wina W; Jedema, Inge I; Kroes, Wilma G M WGM; Knijnenburg, Jeroen J; van Wezel, Tom T; Vermaat, Joost S P JSP; Valk, Peter J M PJM; Janssen, Bart B; de Knijff, Peter P; van Bergen, Cornelis A M CAM; van den Akker, Erik B EB; Hoen, Peter A C 't PAC'; Kiełbasa, Szymon M SM; Laros, Jeroen F J JFJ; Griffioen, Marieke M; Veelken, Hendrik H
Publication Date: 2021-01

Variant appearance in text: TET2: 5152G>T; Val1718Leu; rs142312318
PubMed Link: 32127641
Variant Present in the following documents:
  • 41375_2020_762_MOESM1_ESM.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: TET2: V1718L
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
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: 5152G>T; V1718L; rs142312318
PubMed Link: 32019565
Variant Present in the following documents:
  • 12920_2020_668_MOESM7_ESM.xls, sheet 1
  • 12920_2020_668_MOESM8_ESM.xls, sheet 1
  • 12920_2020_668_MOESM5_ESM.xls, sheet 1
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: TET2: 5152G>T; Val1718Leu
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Myeloid malignancies-related somatic mutations in aging individuals.

Molecular Genetics & Genomic Medicine
Coutinho, Diego F DF; Zalcberg, Ilana R IR; Monte-Mór, Bárbara C R BCR
Publication Date: 2019-06

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 31006989
Variant Present in the following documents:
  • MGG3-7-e683-s002.xlsx, sheet 1
View BVdb publication page



Tumor Variant Identification That Accounts for the Unique Molecular Landscape of Pediatric Malignancies.

Jnci Cancer Spectrum
Lorentzian, Amanda A; Biegel, Jaclyn A JA; Ostrow, D Gigi DG; Rolf, Nina N; Liu, Chi-Chao CC; Rassekh, S Rod SR; Deyell, Rebecca J RJ; Triche, Timothy T; Schultz, Kirk R KR; Rozmus, Jacob J; Reid, Gregor S D GSD; Lim, C James CJ; Lange, Philipp F PF; Maxwell, Christopher A CA
Publication Date: 2018-10

Variant appearance in text: TET2: Val1718Leu
PubMed Link: 30976750
Variant Present in the following documents:
  • pky079_supp.pdf
View BVdb publication page



Outcome and molecular characteristics of non-invasive encapsulated follicular variant of papillary thyroid carcinoma with oncocytic features.

Endocrine
Xu, Bin B; Reznik, Ed E; Tuttle, R Michael RM; Knauf, Jeffrey J; Fagin, James A JA; Katabi, Nora N; Dogan, Snjezana S; Aleynick, Nathaniel N; Seshan, Venkatraman V; Middha, Sumit S; Enepekides, Danny D; Casadei, Gian Piero GP; Solaroli, Erica E; Tallini, Giovanni G; Ghossein, Ronald R; Ganly, Ian I
Publication Date: 2019-04

Variant appearance in text: TET2: V1718L
PubMed Link: 30689169
Variant Present in the following documents:
  • Main text
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: 5152G>T; Val1718Leu; rs142312318
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s3.xlsx, sheet 3
  • bty518_supplementary_data_s2.xlsx, sheet 8
  • bty518_supplementary_data_s2.xlsx, sheet 3
  • bty518_supplementary_data_s7.xlsx, sheet 3
  • bty518_supplementary_data_s1.xlsx, sheet 3
  • bty518_supplementary_data_s5.xlsx, sheet 3
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Mutational analysis of disease relapse in patients allografted for acute myeloid leukemia.

Blood Advances
Quek, Lynn L; Ferguson, Paul P; Metzner, Marlen M; Ahmed, Ikhlaaq I; Kennedy, Alison A; Garnett, Catherine C; Jeffries, Sally S; Walter, Claudia C; Piechocki, Kim K; Timbs, Adele A; Danby, Robert R; Raghavan, Manoj M; Peniket, Andrew A; Griffiths, Mike M; Bacon, Andrew A; Ward, Janice J; Wheatley, Keith K; Vyas, Paresh P; Craddock, Charles C
Publication Date: 2016-12-27

Variant appearance in text: TET2: V1718L
PubMed Link: 29296935
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the DNA methylation pathway and number of driver mutations predict response to azacitidine in myelodysplastic syndromes.

Oncotarget
Cedena, M Teresa MT; Rapado, Inmaculada I; Santos-Lozano, Alejandro A; Ayala, Rosa R; Onecha, Esther E; Abaigar, María M; Such, Esperanza E; Ramos, Fernando F; Cervera, José J; Díez-Campelo, María M; Sanz, Guillermo G; Rivas, Jesús Hernández JH; Lucía, Alejandro A; Martínez-López, Joaquin J
Publication Date: 2017-12-05

Variant appearance in text: TET2: 5152G>T; Val1718Leu
PubMed Link: 29291002
Variant Present in the following documents:
  • oncotarget-08-106948-s002.xls, sheet 1
View BVdb publication page



The impact of RNA sequence library construction protocols on transcriptomic profiling of leukemia.

Bmc Genomics
Kumar, Ashwini A; Kankainen, Matti M; Parsons, Alun A; Kallioniemi, Olli O; Mattila, Pirkko P; Heckman, Caroline A CA
Publication Date: 2017-08-17

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 28818039
Variant Present in the following documents:
  • 12864_2017_4039_MOESM2_ESM.xls, sheet 7
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 8
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: TET2: 5152G>T; V1718L; rs142312318
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TET2: V1718L
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
View BVdb publication page



Bone marrow fibrosis in myelodysplastic syndromes: a prospective evaluation including mutational analysis.

Oncotarget
Ramos, Fernando F; Robledo, Cristina C; Izquierdo-García, Francisco Miguel FM; Suárez-Vilela, Dimas D; Benito, Rocío R; Fuertes, Marta M; Insunza, Andrés A; Barragán, Eva E; Del Rey, Mónica M; García-Ruiz de Morales, José María JM; Tormo, Mar M; Salido, Eduardo E; Zamora, Lurdes L; Pedro, Carmen C; Sánchez-Del-Real, Javier J; Díez-Campelo, María M; Del Cañizo, Consuelo C; Sanz, Guillermo F GF; Hernández-Rivas, Jesús María JM; ,
Publication Date: 2016-05-24

Variant appearance in text: TET2: Val1718Leu
PubMed Link: 27127180
Variant Present in the following documents:
  • oncotarget-07-30492-s002.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs142312318
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Comprehensive Molecular Profiling of Archival Bone Marrow Trephines Using a Commercially Available Leukemia Panel and Semiconductor-Based Targeted Resequencing.

Plos One
Bartels, Stephan S; Schipper, Elisa E; Kreipe, Hans Heinrich HH; Lehmann, Ulrich U
Publication Date: 2015

Variant appearance in text: TET2: V1718L
PubMed Link: 26222071
Variant Present in the following documents:
  • Main text
  • pone.0133930.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: TET2: V1718L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.

Leukemia
Pellagatti, A A; Roy, S S; Di Genua, C C; Burns, A A; McGraw, K K; Valletta, S S; Larrayoz, M J MJ; Fernandez-Mercado, M M; Mason, J J; Killick, S S; Mecucci, C C; Calasanz, M J MJ; List, A A; Schuh, A A; Boultwood, J J
Publication Date: 2016-01

Variant appearance in text: TET2: V1718L
PubMed Link: 25991409
Variant Present in the following documents:
  • leu2015129x2.xls, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: TET2: V1718L; rs142312318
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page



TET2 mutations in Ph-negative myeloproliferative neoplasms: identification of three novel mutations and relationship with clinical and laboratory findings.

Biomed Research International
Patriarca, Andrea A; Colaizzo, Donatella D; Tiscia, Gianluca G; Spadano, Raffaele R; Di Zacomo, Silvia S; Spadano, Antonio A; Villanova, Ida I; Margaglione, Maurizio M; Grandone, Elvira E; Dragani, Alfredo A
Publication Date: 2013

Variant appearance in text: TET2: 5152G>T; V1718L
PubMed Link: 23781511
Variant Present in the following documents:
  • Main text
  • BMRI2013-929840.pdf
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Effects of TET2 mutations on DNA methylation in chronic myelomonocytic leukemia.

Epigenetics
Yamazaki, Jumpei J; Taby, Rodolphe R; Vasanthakumar, Aparna A; Macrae, Trisha T; Ostler, Kelly R KR; Shen, Lanlan L; Kantarjian, Hagop M HM; Estecio, Marcos R MR; Jelinek, Jaroslav J; Godley, Lucy A LA; Issa, Jean-Pierre J JP
Publication Date: 2012-02

Variant appearance in text: TET2: V1718L
PubMed Link: 22395470
Variant Present in the following documents:
  • Main text
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The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.

Haematologica
Olcaydu, Damla D; Rumi, Elisa E; Harutyunyan, Ashot A; Passamonti, Francesco F; Pietra, Daniela D; Pascutto, Cristiana C; Berg, Tiina T; Jäger, Roland R; Hammond, Emma E; Cazzola, Mario M; Kralovics, Robert R
Publication Date: 2011-03

Variant appearance in text: TET2: V1718L
PubMed Link: 21173100
Variant Present in the following documents:
  • Main text
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Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.

Leukemia Research
Szpurka, Hadrian H; Jankowska, Anna M AM; Makishima, Hideki H; Bodo, Juraj J; Bejanyan, Nelli N; Hsi, Eric D ED; Sekeres, Mikkael A MA; Maciejewski, Jaroslaw P JP
Publication Date: 2010-08

Variant appearance in text: TET2: V1718L
PubMed Link: 20334914
Variant Present in the following documents:
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Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.

Blood
Abdel-Wahab, Omar O; Mullally, Ann A; Hedvat, Cyrus C; Garcia-Manero, Guillermo G; Patel, Jay J; Wadleigh, Martha M; Malinge, Sebastien S; Yao, JinJuan J; Kilpivaara, Outi O; Bhat, Rukhmi R; Huberman, Kety K; Thomas, Sabrena S; Dolgalev, Igor I; Heguy, Adriana A; Paietta, Elisabeth E; Le Beau, Michelle M MM; Beran, Miloslav M; Tallman, Martin S MS; Ebert, Benjamin L BL; Kantarjian, Hagop M HM; Stone, Richard M RM; Gilliland, D Gary DG; Crispino, John D JD; Levine, Ross L RL
Publication Date: 2009-07-02

Variant appearance in text: TET2: V1718L
PubMed Link: 19420352
Variant Present in the following documents:
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Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.

Blood
Jankowska, Anna M AM; Szpurka, Hadrian H; Tiu, Ramon V RV; Makishima, Hideki H; Afable, Manuel M; Huh, Jungwon J; O'Keefe, Christine L CL; Ganetzky, Rebecca R; McDevitt, Michael A MA; Maciejewski, Jaroslaw P JP
Publication Date: 2009-06-18

Variant appearance in text: TET2: V1718L
PubMed Link: 19372255
Variant Present in the following documents:
  • Main text
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