Publications:

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TET2: L1248P

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal

Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-07-04

Variant appearance in text: rs372179780

PubMed Link: 35788129

Variant Present in the following documents:

• 41408_2022_699_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: TET2: L1248P

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM12_ESM.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: 3743T>C; Leu1248Pro

PubMed Link: 35279121

Variant Present in the following documents:

• 12885_2022_9347_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: TET2: 3743T>C; L1248P

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Eltrombopag inhibits TET dioxygenase to contribute to hematopoietic stem cell expansion in aplastic anemia.

The Journal Of Clinical Investigation

Guan, Yihong Y; Hasipek, Metis M; Jiang, Dongxu D; Tiwari, Anand D AD; Grabowski, Dale R DR; Pagliuca, Simona S; Kongkiatkamon, Sunisa S; Patel, Bhumika B; Singh, Salendra S; Parker, Yvonne Y; LaFramboise, Thomas T; Lindner, Daniel D; Sekeres, Mikkael A MA; Mian, Omar Y OY; Saunthararajah, Yogen Y; Maciejewski, Jaroslaw P JP; Jha, Babal K BK

Publication Date: 2022-01-27

Variant appearance in text: TET2: L1248P

PubMed Link: 35085104

Variant Present in the following documents:

• Main text
• jci-132-149856.pdf

View BVdb publication page

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Eltrombopag inhibits TET dioxygenase to contribute to hematopoietic stem cell expansion in aplastic anemia.

The Journal Of Clinical Investigation

Guan, Yihong Y; Hasipek, Metis M; Jiang, Dongxu D; Tiwari, Anand D AD; Grabowski, Dale R DR; Pagliuca, Simona S; Kongkiatkamon, Sunisa S; Patel, Bhumika B; Singh, Salendra S; Parker, Yvonne Y; LaFramboise, Thomas T; Lindner, Daniel D; Sekeres, Mikkael A MA; Mian, Omar Y OY; Saunthararajah, Yogen Y; Maciejewski, Jaroslaw P JP; Jha, Babal K BK

Publication Date: 2022-02-15

Variant appearance in text: TET2: L1248P

PubMed Link: 35085104

Variant Present in the following documents:

• Main text
• jci-132-149856.pdf

View BVdb publication page

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Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia

Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP

Publication Date: 2022-02

Variant appearance in text: TET2: L1248P

PubMed Link: 34413458

Variant Present in the following documents:

• 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutated clones driving leukemic transformation are already detectable at the single-cell level in CD34-positive cells in the chronic phase of primary myelofibrosis.

Npj Precision Oncology

Parenti, Sandra S; Rontauroli, Sebastiano S; Carretta, Chiara C; Mallia, Selene S; Genovese, Elena E; Chiereghin, Chiara C; Peano, Clelia C; Tavernari, Lara L; Bianchi, Elisa E; Fantini, Sebastian S; Sartini, Stefano S; Romano, Oriana O; Bicciato, Silvio S; Tagliafico, Enrico E; Della Porta, Matteo M; Manfredini, Rossella R

Publication Date: 2021-02-04

Variant appearance in text: TET2: 3743T>C; Leu1248Pro

PubMed Link: 33542466

Variant Present in the following documents:

• Main text
• 41698_2021_Article_144.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TET2: 3743T>C; L1248P

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

The Journal Of Pathology

Yao, Wen-Qing WQ; Wu, Fangtian F; Zhang, Wenyan W; Chuang, Shih-Sung SS; Thompson, Joe S JS; Chen, Zi Z; Zhang, Shao-Wei SW; Clipson, Alexandra A; Wang, Ming M; Liu, Hongxiang H; Bibawi, Hani H; Huang, Yuanxue Y; Campos, Luis L; Grant, John W JW; Wright, Penny P; Ei-Daly, Hesham H; Rásó-Barnett, Lívia L; Farkas, Lorant L; Follows, George A GA; Gao, Zifen Z; Attygalle, Ayoma D AD; Ashton-Key, Margaret M; Liu, Weiping W; Du, Ming-Qing MQ

Publication Date: 2020-03

Variant appearance in text: TET2: L1248P

PubMed Link: 31859368

Variant Present in the following documents:

• PATH-250-346-s001.pdf

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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: 3743T>C; Leu1248Pro; rs372179780

PubMed Link: 31187595

Variant Present in the following documents:

View BVdb publication page

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Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Thescientificworldjournal

Gemovic, Branislava B; Perovic, Vladimir V; Glisic, Sanja S; Veljkovic, Nevena N

Publication Date: 2013

Variant appearance in text: TET2: L1248P

PubMed Link: 24348198

Variant Present in the following documents:

• 948617.f1.pdf

View BVdb publication page

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