Publications:

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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: H924R; rs34485921

PubMed Link: 35731890

Variant Present in the following documents:

• EMS146397-supplement-Supplementary_Tables.xlsx, sheet 4

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: 2771A>G; His924Arg; rs34485921

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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Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Haematologica

Gutierrez-Rodrigues, Fernanda F; Beerman, Isabel I; Groarke, Emma M EM; Patel, Bhavisha A BA; Spitofsky, Nina N; Dillon, Laura W LW; Raffo, Diego Quinones DQ; Hourigan, Christopher S CS; Kajigaya, Sachiko S; Ferrucci, Luigi L; Young, Neal S NS

Publication Date: 2022-08-01

Variant appearance in text: TET2: 2771A>G; His924Arg

PubMed Link: 34587721

Variant Present in the following documents:

• 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TET2: 2771A>G; His924Arg; rs34485921

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TET2: 2771A>G; His924Arg; rs34485921

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

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: 2771A>G; His924Arg; rs34485921

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: TET2: H924R; rs34485921

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM6_ESM.xlsx, sheet 1
• 41467_2018_6690_MOESM8_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: His924Arg; rs34485921

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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Prevalence of somatic mutations in patients with aplastic anemia using peripheral blood cfDNA as compared with BM.

Leukemia

Albitar, A A; Townsley, D D; Ma, W W; De Dios, I I; Funari, V V; Young, N S NS; Albitar, M M

Publication Date: 2018-01

Variant appearance in text: TET2: His924Arg

PubMed Link: 28832022

Variant Present in the following documents:

• Main text
• leu2017271a.pdf

View BVdb publication page

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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: H924R

PubMed Link: 26984174

Variant Present in the following documents:

• Main text
• 13000_2016_Article_476.pdf

View BVdb publication page

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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: rs34485921

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: H924R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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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: TET2: H924R; rs34485921

PubMed Link: 26126966

Variant Present in the following documents:

• NIHMS692629-supplement-1.pdf

View BVdb publication page

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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: H924R; rs34485921

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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