Publications:

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Detection and targeting of splicing deregulation in pediatric acute myeloid leukemia stem cells.

Cell Reports. Medicine

van der Werf, Inge I; Mondala, Phoebe K PK; Steel, S Kathleen SK; Balaian, Larisa L; Ladel, Luisa L; Mason, Cayla N CN; Diep, Raymond H RH; Pham, Jessica J; Cloos, Jacqueline J; Kaspers, Gertjan J L GJL; Chan, Warren C WC; Mark, Adam A; La Clair, James J JJ; Wentworth, Peggy P; Fisch, Kathleen M KM; Crews, Leslie A LA; Whisenant, Thomas C TC; Burkart, Michael D MD; Donohoe, Mary E ME; Jamieson, Catriona H M CHM

Publication Date: 2023-03-02

Variant appearance in text: TET2: H1778R

PubMed Link: 36889320

Variant Present in the following documents:

• mmc4.pdf
• main.pdf

View BVdb publication page

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Oxidized mC modulates synthetic lethality to PARP inhibitors for the treatment of leukemia.

Cell Reports

Brabson, John P JP; Leesang, Tiffany T; Yap, Yoon Sing YS; Wang, Jingjing J; Lam, Minh Q MQ; Fang, Byron B; Dolgalev, Igor I; Barbieri, Daniela A DA; Strippoli, Victoria V; Bañuelos, Carolina P CP; Mohammad, Sofia S; Lyon, Peter P; Chaudhry, Sana S; Donich, Dane D; Swirski, Anna A; Roberts, Evan E; Diaz, Ivelisse I; Karl, Daniel D; Dos Santos, Helena Gomes HG; Shiekhattar, Ramin R; Neel, Benjamin G BG; Nimer, Stephen D SD; Verdun, Ramiro E RE; Bilbao, Daniel D; Figueroa, Maria E ME; Cimmino, Luisa L

Publication Date: 2023-01-31

Variant appearance in text: TET2: H1778R

PubMed Link: 36848231

Variant Present in the following documents:

• NIHMS1870548-supplement-6.xlsx, sheet 4

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: TET2: 5333A>G; H1778R; rs62621450

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics

Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP

Publication Date: 2022

Variant appearance in text: TET2: 5333A>G; H1778R

PubMed Link: 35836575

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 2

View BVdb publication page

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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: 5333A>G; H1778R; rs62621450

PubMed Link: 35279121

Variant Present in the following documents:

• 12885_2022_9347_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: TET2: 5333A>G; His1778Arg; rs62621450

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: TET2: His1778Arg; rs62621450

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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TET2 mutations in acute myeloid leukemia: a comprehensive study in patients of Sindh, Pakistan.

Peerj

Shaikh, Abdul Rehman Khalil ARK; Ujjan, Ikram I; Irfan, Muhammad M; Naz, Arshi A; Shamsi, Tahir T; Khan, Muhammad Tariq Masood MTM; Shakeel, Muhammad M

Publication Date: 2021

Variant appearance in text: rs62621450

PubMed Link: 33643703

Variant Present in the following documents:

• Main text
• peerj-09-10678.pdf

View BVdb publication page

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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: TET2: 5333A>G; His1778Arg; rs62621450

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.

Cancers

Delcourt, Thomas T; Vanneste, Kevin K; Soumali, Mohamed Rida MR; Coucke, Wim W; Ghislain, Vanessa V; Hebrant, Aline A; Van Valckenborgh, Els E; De Keersmaecker, Sigrid C J SCJ; Roosens, Nancy H NH; Van De Walle, Philippe P; Van Den Bulcke, Marc M; Antoniou, Aline A

Publication Date: 2020-10-29

Variant appearance in text: TET2: His1778Arg

PubMed Link: 33138022

Variant Present in the following documents:

• Main text
• cancers-12-03180.pdf

View BVdb publication page

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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: 5333A>G; H1778R; rs62621450

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM5_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM6_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm.

Genes, Chromosomes & Cancer

Bastidas Torres, Armando N AN; Cats, Davy D; Mei, Hailiang H; Fanoni, Daniele D; Gliozzo, Jessica J; Corti, Laura L; Paulli, Marco M; Vermeer, Maarten H MH; Willemze, Rein R; Berti, Emilio E; Tensen, Cornelis P CP

Publication Date: 2020-05

Variant appearance in text: TET2: 5333A>G; H1778R; rs62621450

PubMed Link: 31846142

Variant Present in the following documents:

• GCC-59-295-s002.xlsx, sheet 12

View BVdb publication page

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Features of non-activation dendritic state and immune deficiency in blastic plasmacytoid dendritic cell neoplasm (BPDCN).

Blood Cancer Journal

Beird, Hannah C HC; Khan, Maliha M; Wang, Feng F; Alfayez, Mansour M; Cai, Tianyu T; Zhao, Li L; Khoury, Joseph J; Futreal, P Andrew PA; Konopleva, Marina M; Pemmaraju, Naveen N

Publication Date: 2019-12-06

Variant appearance in text: TET2: 5333A>G; H1778R; rs62621450

PubMed Link: 31811114

Variant Present in the following documents:

• 41408_2019_262_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine

Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY

Publication Date: 2019-12

Variant appearance in text: TET2: 5333A>G; H1778R; rs62621450

PubMed Link: 31761620

Variant Present in the following documents:

• mmc1.xlsx, sheet 7

View BVdb publication page

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The Landscape of KMT2A-PTD AML: Concurrent Mutations, Gene Expression Signatures, and Clinical Outcome.

Hemasphere

Hinai, Adil S A Al ASAA; Pratcorona, Marta M; Grob, Tim T; Kavelaars, François G FG; Bussaglia, Elena E; Sanders, Mathijs A MA; Nomdedeu, Josep J; Valk, Peter J M PJM

Publication Date: 2019-04

Variant appearance in text: TET2: H1778R

PubMed Link: 31723820

Variant Present in the following documents:

• hs9-3-e181-s004.xlsx, sheet 2

View BVdb publication page

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Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH).

Experimental Hematology & Oncology

Lobry, Camille C; Bains, Ashish A; Zamechek, Leah B LB; Ibrahim, Sherif S; Aifantis, Iannis I; Araten, David J DJ

Publication Date: 2019

Variant appearance in text: TET2: H1778R

PubMed Link: 31453016

Variant Present in the following documents:

• Main text
• 40164_2019_Article_142.pdf

View BVdb publication page

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TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine

Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P

Publication Date: 2019-07

Variant appearance in text: TET2: 5333A>G; His1778Arg; rs62621450

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs62621450

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: TET2: 5333A>G; H1778R; rs62621450

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 5

View BVdb publication page

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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: 5333A>G; His1778Arg; rs62621450

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s6.xlsx, sheet 3
• bty518_supplementary_data_s2.xlsx, sheet 3
• bty518_supplementary_data_s3.xlsx, sheet 3
• bty518_supplementary_data_s1.xlsx, sheet 3
• bty518_supplementary_data_s6.xlsx, sheet 8
• bty518_supplementary_data_s3.xlsx, sheet 9
• bty518_supplementary_data_s5.xlsx, sheet 8
• bty518_supplementary_data_s10.xlsx, sheet 3
• bty518_supplementary_data_s4.xlsx, sheet 3
• bty518_supplementary_data_s3.xlsx, sheet 8
• bty518_supplementary_data_s2.xlsx, sheet 8
• bty518_supplementary_data_s5.xlsx, sheet 3
• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.

Leukemia

Casado, Pedro P; Wilkes, Edmund H EH; Miraki-Moud, Farideh F; Hadi, Marym Mohammad MM; Rio-Machin, Ana A; Rajeeve, Vinothini V; Pike, Rebecca R; Iqbal, Sameena S; Marfa, Santiago S; Lea, Nicholas N; Best, Steven S; Gribben, John J; Fitzgibbon, Jude J; Cutillas, Pedro R PR

Publication Date: 2018-08

Variant appearance in text: TET2: His1778Arg; rs62621450

PubMed Link: 29626197

Variant Present in the following documents:

• 41375_2018_32_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Spatial Tissue Proteomics Quantifies Inter- and Intratumor Heterogeneity in Hepatocellular Carcinoma (HCC).

Molecular & Cellular Proteomics : Mcp

Buczak, Katarzyna K; Ori, Alessandro A; Kirkpatrick, Joanna M JM; Holzer, Kerstin K; Dauch, Daniel D; Roessler, Stephanie S; Endris, Volker V; Lasitschka, Felix F; Parca, Luca L; Schmidt, Alexander A; Zender, Lars L; Schirmacher, Peter P; Krijgsveld, Jeroen J; Singer, Stephan S; Beck, Martin M

Publication Date: 2018-04

Variant appearance in text: TET2: His1778Arg; rs62621450

PubMed Link: 29363612

Variant Present in the following documents:

• supp_RA117.000189_4790_2_supp_58832_p2t92h.xlsx, sheet 1

View BVdb publication page

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Dysfunction of the WT1-MEG3 signaling promotes AML leukemogenesis via p53-dependent and -independent pathways.

Leukemia

Lyu, Y Y; Lou, J J; Yang, Y Y; Feng, J J; Hao, Y Y; Huang, S S; Yin, L L; Xu, J J; Huang, D D; Ma, B B; Zou, D D; Wang, Y Y; Zhang, Y Y; Zhang, B B; Chen, P P; Yu, K K; Lam, E W-F EW; Wang, X X; Liu, Q Q; Yan, J J; Jin, B B

Publication Date: 2017-12

Variant appearance in text: TET2: H1778R

PubMed Link: 28400619

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

3 Biotech

Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB

Publication Date: 2015-10

Variant appearance in text: TET2: H1778R

PubMed Link: 28324520

Variant Present in the following documents:

• 13205_2014_267_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

CEBPA-double-mutated acute myeloid leukemia displays a unique phenotypic profile: a reliable screening method and insight into biological features.

Haematologica

Mannelli, Francesco F; Ponziani, Vanessa V; Bencini, Sara S; Bonetti, Maria Ida MI; Benelli, Matteo M; Cutini, Ilaria I; Gianfaldoni, Giacomo G; Scappini, Barbara B; Pancani, Fabiana F; Piccini, Matteo M; Rondelli, Tommaso T; Caporale, Roberto R; Gelli, Anna Maria Grazia AM; Peruzzi, Benedetta B; Chiarini, Marco M; Borlenghi, Erika E; Spinelli, Orietta O; Giupponi, Damiano D; Zanghì, Pamela P; Bassan, Renato R; Rambaldi, Alessandro A; Rossi, Giuseppe G; Bosi, Alberto A

Publication Date: 2017-03

Variant appearance in text: TET2: 5333A>G; His1778Arg

PubMed Link: 28250006

Variant Present in the following documents:

• 2016.151910.MANNELLI_SUPPL.pdf

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: 5333A>G; H1778R; rs62621450

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1
• ncomms12475-s3.xlsx, sheet 1

View BVdb publication page

---

Low Ten-eleven-translocation 2 (TET2) transcript level is independent of TET2 mutation in patients with myeloid neoplasms.

Diagnostic Pathology

Scopim-Ribeiro, Renata R; Machado-Neto, João Agostinho JA; de Melo Campos, Paula P; Niemann, Fernanda Soares FS; Lorand-Metze, Irene I; Costa, Fernando Ferreira FF; Olalla Saad, Sara Teresinha ST; Traina, Fabiola F

Publication Date: 2016-03-16

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 26984174

Variant Present in the following documents:

• Main text
• 13000_2016_Article_476.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: rs62621450

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Genetic Characterization of Ten-Eleven-Translocation Methylcytosine Dioxygenase Alterations in Human Glioma.

Journal Of Cancer

Kraus, Theo F J TF; Greiner, Andrea A; Steinmaurer, Martina M; Dietinger, Vanessa V; Guibourt, Virginie V; Kretzschmar, Hans A HA

Publication Date: 2015

Variant appearance in text: TET2: 5333A>G; H1778R

PubMed Link: 26284134

Variant Present in the following documents:

• Main text

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: H1778R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.

Leukemia

Kutny, M A MA; Alonzo, T A TA; Gamazon, E R ER; Gerbing, R B RB; Geraghty, D D; Lange, B B; Heerema, N A NA; Sung, L L; Aplenc, R R; Franklin, J J; Raimondi, S C SC; Hirsch, B A BA; Konkashbaev, A A; Cox, N J NJ; Onel, K K; Gamis, A S AS; Meshinchi, S S

Publication Date: 2015-12

Variant appearance in text: rs62621450

PubMed Link: 26126966

Variant Present in the following documents:

• NIHMS692629-supplement-1.pdf

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: TET2: H1778R; rs62621450

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19

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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: H1778R; rs62621450

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1
• pone.0094554.s002.xlsx, sheet 3

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TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations.

Biomed Research International

Hernández-Sánchez, María M; Rodríguez, Ana Eugenia AE; Kohlmann, Alexander A; Benito, Rocío R; García, Juan Luis JL; Risueño, Alberto A; Fermiñán, Encarna E; De Las Rivas, Javier J; González, Marcos M; Hernández-Rivas, Jesús-María JM

Publication Date: 2014

Variant appearance in text: TET2: His1778Arg; rs62621450

PubMed Link: 24693539

Variant Present in the following documents:

• Main text
• BMRI2014-814294.pdf

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