DNMT3A c.2311C>T ;(p.R771*)

Variant ID: 2-25463182-G-A

NM_022552.4(DNMT3A):c.2311C>T;(p.R771*)

This variant was identified in 57 publications

View GRCh38 version.




Publications:


Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.

Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.

Blood Cancer Journal
Rolles, Benjamin B; Meyer, Robert R; Begemann, Matthias M; Elbracht, Miriam M; Jost, Edgar E; Stelljes, Matthias M; Kurth, Ingo I; Brümmendorf, Tim H TH; Silling, Gerda G
Publication Date: 2023-05-10

Variant appearance in text: DNMT3A: Arg771Ter
PubMed Link: 37160870
Variant Present in the following documents:
  • 41408_2023_Article_846.pdf
View BVdb publication page



Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: DNMT3A: R771*
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 2
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: DNMT3A: 2311C>T; Arg771*
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter; rs779626155
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genomics improves risk stratification of adults with T-cell acute lymphoblastic leukemia patients enrolled in measurable residual disease-oriented trials.

Haematologica
González-Gil, Celia C; Morgades, Mireia M; Lopes, Thaysa T; Fuster-Tormo, Francisco F; García-Chica, Jesús J; Zhao, Ran R; Montesinos, Pau P; Torrent, Anna A; Diaz-Beya, Marina M; Coll, Rosa R; Hermosín, Lourdes L; Mercadal, Santiago S; González-Campos, José J; Zamora, Lurdes L; Artola, Teresa T; Vall-Llovera, Ferran F; Tormo, Mar M; Gil-Cortés, Cristina C; Barba, Pere P; Novo, Andrés A; Ribera, Jordi J; Bernal, Teresa T; De Ugarriza, Paula López PL; Queipo, María-Paz MP; Martínez-Sánchez, Pilar P; Giménez, Alicia A; González-Martínez, Teresa T; Cladera, Antonia A; Cervera, José J; Fernández-Martín, Rosa R; Ardaiz, María Ángeles MÁ; Vidal, María Jesús MJ; Baena, Ángela Á; López-Bigas, Nuria N; Bigas, Anna A; Maciejewski, Jaroslaw J; Orfao, Alberto A; Ribera, Josep Maria JM; Genescà, Eulalia E
Publication Date: 2022-11-03

Variant appearance in text: DNMT3A: R771X
PubMed Link: 36325893
Variant Present in the following documents:
  • 108969.pdf
View BVdb publication page



Clinical, Mutational, and Transcriptomic Characteristics in Elderly Korean Individuals With Clonal Hematopoiesis Driver Mutations.

Annals Of Laboratory Medicine
Moon, Inki I; Kong, Min Gyu MG; Ji, Young Sok YS; Kim, Se Hyung SH; Park, Seong Kyu SK; Suh, Jon J; Jang, Mi-Ae MA
Publication Date: 2023-03-01

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 36281508
Variant Present in the following documents:
  • alm-43-2-145-supple2.pdf
View BVdb publication page



Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Publication Date: 2022-10-03

Variant appearance in text: DNMT3A: 2311C>T; Arg771*
PubMed Link: 36184726
Variant Present in the following documents:
  • 11357_2022_666_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: DNMT3A: R771X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Heterogeneous genetic and non-genetic mechanisms contribute to response and resistance to azacitidine monotherapy.

Ejhaem
Symeonidou, Vasiliki V; Metzner, Marlen M; Usukhbayar, Batchimeg B; Jackson, Aimee E AE; Fox, Sonia S; Craddock, Charles F CF; Vyas, Paresh P
Publication Date: 2022-08

Variant appearance in text: DNMT3A: R771X
PubMed Link: 36051087
Variant Present in the following documents:
  • JHA2-3-794-s003.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Retrospective analysis of somatic mutations and clonal hematopoiesis in astronauts.

Communications Biology
Brojakowska, Agnieszka A; Kour, Anupreet A; Thel, Mark Charles MC; Park, Eunbee E; Bisserier, Malik M; Garikipati, Venkata Naga Srikanth VNS; Hadri, Lahouaria L; Mills, Paul J PJ; Walsh, Kenneth K; Goukassian, David A DA
Publication Date: 2022-08-17

Variant appearance in text: DNMT3A: Arg771Ter
PubMed Link: 35978153
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3777.pdf
  • 42003_2022_3777_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Leukemia
Jahn, Nikolaus N; Jahn, Ekaterina E; Saadati, Maral M; Bullinger, Lars L; Larson, Richard A RA; Ottone, Tiziana T; Amadori, Sergio S; Prior, Thomas W TW; Brandwein, Joseph M JM; Appelbaum, Frederick R FR; Medeiros, Bruno C BC; Tallman, Martin S MS; Ehninger, Gerhard G; Heuser, Michael M; Ganser, Arnold A; Pallaud, Celine C; Gathmann, Insa I; Krzykalla, Julia J; Benner, Axel A; Bloomfield, Clara D CD; Thiede, Christian C; Stone, Richard M RM; Döhner, Hartmut H; Döhner, Konstanze K
Publication Date: 2022-09

Variant appearance in text: DNMT3A: R771X
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Mediating and maintaining methylation while minimizing mutation: Recent advances on mammalian DNA methyltransferases.

Current Opinion In Structural Biology
Cheng, Xiaodong X; Blumenthal, Robert M RM
Publication Date: 2022-08

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35914495
Variant Present in the following documents:
  • Main text
  • nihms-1844660.pdf
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: DNMT3A: 2311C>T; Arg771*
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood
Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS
Publication Date: 2022-10-06

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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: DNMT3A: R771*
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: DNMT3A: R771X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM13_ESM.xlsx, sheet 4
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
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: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



First-in-human study of WT1 recombinant protein vaccination in elderly patients with AML in remission: a single-center experience.

Cancer Immunology, Immunotherapy : Cii
Kreutmair, Stefanie S; Pfeifer, Dietmar D; Waterhouse, Miguel M; Takács, Ferenc F; Graessel, Linda L; Döhner, Konstanze K; Duyster, Justus J; Illert, Anna Lena AL; Frey, Anna-Verena AV; Schmitt, Michael M; Lübbert, Michael M
Publication Date: 2022-12

Variant appearance in text: DNMT3A: 2311C>T
PubMed Link: 35476127
Variant Present in the following documents:
  • 262_2022_Article_3202.pdf
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: DNMT3A: 2311C>T; Arg771*
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



MGUS and clonal hematopoiesis show unrelated clinical and biological trajectories in an older population cohort.

Blood Advances
Da Vià, Matteo Claudio MC; Lionetti, Marta M; Marella, Alessio A; Matera, Antonio A; Travaglino, Erica E; Signaroldi, Elena E; Galbussera, Alessia Antonella AA; Lucca, Ugo U; Mandelli, Sara S; Riva, Emma E; Tettamanti, Mauro M; Pettine, Loredana L; Pompa, Alessandra A; Baldini, Luca L; Neri, Antonino A; Della Porta, Matteo Giovanni MG; Bolli, Niccolò N
Publication Date: 2022-11-08

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 35390146
Variant Present in the following documents:
  • BLOODA_ADV-2021-006498-mmc1.pdf
View BVdb publication page



Clonal hematopoiesis in primary immune thrombocytopenia.

Blood Cancer Journal
Wang, Yanming Y; Yu, Tianshu T; Dong, Qiaofeng Q; Liu, Shuang S; Yu, Yafei Y; Zhao, Hong Yu HY; Ma, Ji J; Dong, Lin L; Wang, Liang L; Ma, Daoxin D; Zhao, Yajing Y; Hou, Yu Y; Liu, Xinguang X; Peng, Jun J; Hou, Ming M
Publication Date: 2022-03-15

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35293382
Variant Present in the following documents:
  • 41408_2022_641_MOESM1_ESM.pdf
View BVdb publication page



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: DNMT3A: 2311C>T; R771*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports
Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C
Publication Date: 2022-02-09

Variant appearance in text: DNMT3A: R771*
PubMed Link: 35140316
Variant Present in the following documents:
  • 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: DNMT3A: R771*
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
Publication Date: 2021-06

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 33779075
Variant Present in the following documents:
  • EHF2-8-1873-s002.xlsx, sheet 1
View BVdb publication page



Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis.

Haematologica
Dobson, Rachel R; Du, Peter Y PY; Rásó-Barnett, Lívia L; Yao, Wen-Qing WQ; Chen, Zi Z; Casa, Calogero C; Ei-Daly, Hesham H; Farkas, Lorant L; Soilleux, Elizabeth E; Wright, Penny P; Grant, John W JW; Rodriguez-Justo, Manuel M; Follows, George A GA; Rashed, Hala H; Fabre, Margarete M; Baxter, E Joanna EJ; Vassiliou, George G; Wotherspoon, Andrew A; Attygalle, Ayoma D AD; Liu, Hongxiang H; Du, Ming-Qing MQ
Publication Date: 2022-02-01

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 33567811
Variant Present in the following documents:
  • Main text
  • 107489.pdf
View BVdb publication page



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: DNMT3A: 2311C>T; R771*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
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: DNMT3A: 2311C>T; R771*; rs779626155
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: DNMT3A: R771X
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



DNA methyltransferases in hematological malignancies.

Journal Of Genetics And Genomics = Yi Chuan Xue Bao
Hoang, Nguyet-Minh NM; Rui, Lixin L
Publication Date: 2020-07-20

Variant appearance in text: DNMT3A: R771*
PubMed Link: 32994141
Variant Present in the following documents:
  • Main text
View BVdb publication page



High prevalence of clonal hematopoiesis in the blood and bone marrow of healthy volunteers.

Blood Advances
Guermouche, Hélène H; Ravalet, Noémie N; Gallay, Nathalie N; Deswarte, Caroline C; Foucault, Amelie A; Beaud, Jenny J; Rault, Emmanuelle E; Saindoy, Emeline E; Lachot, Sébastien S; Martignoles, Jean-Alain JA; Gissot, Valérie V; Suner, Ludovic L; Gyan, Emmanuel E; Delhommeau, François F; Herault, Olivier O; Hirsch, Pierre P
Publication Date: 2020-08-11

Variant appearance in text: DNMT3A: Arg771*
PubMed Link: 32761230
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clonal hematopoiesis and risk for hematologic malignancy.

Blood
Warren, Julia T JT; Link, Daniel C DC
Publication Date: 2020-10-01

Variant appearance in text: DNMT3A: R771*
PubMed Link: 32736382
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: DNMT3A: R771*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Surgical Oncology
Lowder, Cinthya Y CY; Dhir, Teena T; Goetz, Austin B AB; Thomsett, Henry L HL; Bender, Joseph J; Tatarian, Talar T; Madhavan, Subha S; Petricoin, Emanuel F EF; Blais, Edik E; Lavu, Harish H; Winter, Jordan M JM; Posey, James J; Brody, Jonathan R JR; Pishvaian, Michael J MJ; Yeo, Charles J CJ
Publication Date: 2020-06

Variant appearance in text: DNMT3A: R771*
PubMed Link: 32561076
Variant Present in the following documents:
  • Main text
  • nihms-1621334.pdf
View BVdb publication page



Clonal hematopoiesis in angioimmunoblastic T-cell lymphoma with divergent evolution to myeloid neoplasms.

Blood Advances
Lewis, Natasha E NE; Petrova-Drus, Kseniya K; Huet, Sarah S; Epstein-Peterson, Zachary D ZD; Gao, Qi Q; Sigler, Allison E AE; Baik, Jeeyeon J; Ozkaya, Neval N; Moskowitz, Alison J AJ; Kumar, Anita A; Horwitz, Steven M SM; Zhang, Yanming Y; Arcila, Maria E ME; Levine, Ross L RL; Roshal, Mikhail M; Dogan, Ahmet A; Xiao, Wenbin W
Publication Date: 2020-05-26

Variant appearance in text: DNMT3A: R771*
PubMed Link: 32442302
Variant Present in the following documents:
  • Main text
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: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 32127641
Variant Present in the following documents:
  • 41375_2020_762_MOESM1_ESM.pdf
View BVdb publication page



White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications
Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE
Publication Date: 2020-01-27

Variant appearance in text: DNMT3A: R771*
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
  • 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 7
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8
  • 41467_2020_14310_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Nature Communications
Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM
Publication Date: 2020-01-23

Variant appearance in text: DNMT3A: Arg771Ter
PubMed Link: 31974348
Variant Present in the following documents:
  • 41467_2019_14079_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter; rs779626155
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_SourceDataExtFig8.xlsx, sheet 1
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Mutant H3 histones drive human pre-leukemic hematopoietic stem cell expansion and promote leukemic aggressiveness.

Nature Communications
Boileau, Meaghan M; Shirinian, Margret M; Gayden, Tenzin T; Harutyunyan, Ashot S AS; Chen, Carol C L CCL; Mikael, Leonie G LG; Duncan, Heather M HM; Neumann, Andrea L AL; Arreba-Tutusaus, Patricia P; De Jay, Nicolas N; Zeinieh, Michele M; Rossokhata, Katya K; Zhang, Yelu Y; Nikbakht, Hamid H; Mouawad, Carine C; Massoud, Radwan R; Frey, Felice F; Nasr, Rihab R; El Cheikh, Jean J; El Sabban, Marwan M; Kleinman, Claudia L CL; Mahfouz, Rami R; Minden, Mark D MD; Jabado, Nada N; Bazarbachi, Ali A; Eppert, Kolja K
Publication Date: 2019-06-28

Variant appearance in text: DNMT3A: R771X
PubMed Link: 31253791
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_10705.pdf
View BVdb publication page



Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Nature Communications
Cocciardi, Sibylle S; Dolnik, Anna A; Kapp-Schwoerer, Silke S; Rücker, Frank G FG; Lux, Susanne S; Blätte, Tamara J TJ; Skambraks, Sabrina S; Krönke, Jan J; Heidel, Florian H FH; Schnöder, Tina M TM; Corbacioglu, Andrea A; Gaidzik, Verena I VI; Paschka, Peter P; Teleanu, Veronica V; Göhring, Gudrun G; Thol, Felicitas F; Heuser, Michael M; Ganser, Arnold A; Weber, Daniela D; Sträng, Eric E; Kestler, Hans A HA; Döhner, Hartmut H; Bullinger, Lars L; Döhner, Konstanze K
Publication Date: 2019-05-02

Variant appearance in text: DNMT3A: R771X
PubMed Link: 31048683
Variant Present in the following documents:
  • 41467_2019_9745_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Plos One
Ibáñez, Mariam M; Carbonell-Caballero, José J; Such, Esperanza E; García-Alonso, Luz L; Liquori, Alessandro A; López-Pavía, María M; Llop, Marta M; Alonso, Carmen C; Barragán, Eva E; Gómez-Seguí, Inés I; Neef, Alexander A; Hervás, David D; Montesinos, Pau P; Sanz, Guillermo G; Sanz, Miguel Angel MA; Dopazo, Joaquín J; Cervera, José J
Publication Date: 2018

Variant appearance in text: DNMT3A: Arg771Ter
PubMed Link: 30303964
Variant Present in the following documents:
  • pone.0202926.s006.pdf
View BVdb publication page



Prediction of acute myeloid leukaemia risk in healthy individuals.

Nature
Abelson, Sagi S; Collord, Grace G; Ng, Stanley W K SWK; Weissbrod, Omer O; Mendelson Cohen, Netta N; Niemeyer, Elisabeth E; Barda, Noam N; Zuzarte, Philip C PC; Heisler, Lawrence L; Sundaravadanam, Yogi Y; Luben, Robert R; Hayat, Shabina S; Wang, Ting Ting TT; Zhao, Zhen Z; Cirlan, Iulia I; Pugh, Trevor J TJ; Soave, David D; Ng, Karen K; Latimer, Calli C; Hardy, Claire C; Raine, Keiran K; Jones, David D; Hoult, Diana D; Britten, Abigail A; McPherson, John D JD; Johansson, Mattias M; Mbabaali, Faridah F; Eagles, Jenna J; Miller, Jessica K JK; Pasternack, Danielle D; Timms, Lee L; Krzyzanowski, Paul P; Awadalla, Philip P; Costa, Rui R; Segal, Eran E; Bratman, Scott V SV; Beer, Philip P; Behjati, Sam S; Martincorena, Inigo I; Wang, Jean C Y JCY; Bowles, Kristian M KM; Quirós, J Ramón JR; Karakatsani, Anna A; La Vecchia, Carlo C; Trichopoulou, Antonia A; Salamanca-Fernández, Elena E; Huerta, José M JM; Barricarte, Aurelio A; Travis, Ruth C RC; Tumino, Rosario R; Masala, Giovanna G; Boeing, Heiner H; Panico, Salvatore S; Kaaks, Rudolf R; Krämer, Alwin A; Sieri, Sabina S; Riboli, Elio E; Vineis, Paolo P; Foll, Matthieu M; McKay, James J; Polidoro, Silvia S; Sala, Núria N; Khaw, Kay-Tee KT; Vermeulen, Roel R; Campbell, Peter J PJ; Papaemmanuil, Elli E; Minden, Mark D MD; Tanay, Amos A; Balicer, Ran D RD; Wareham, Nicholas J NJ; Gerstung, Moritz M; Dick, John E JE; Brennan, Paul P; Vassiliou, George S GS; Shlush, Liran I LI
Publication Date: 2018-07

Variant appearance in text: DNMT3A: R771*
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



DPP8/DPP9 inhibitor-induced pyroptosis for treatment of acute myeloid leukemia.

Nature Medicine
Johnson, Darren C DC; Taabazuing, Cornelius Y CY; Okondo, Marian C MC; Chui, Ashley J AJ; Rao, Sahana D SD; Brown, Fiona C FC; Reed, Casie C; Peguero, Elizabeth E; de Stanchina, Elisa E; Kentsis, Alex A; Bachovchin, Daniel A DA
Publication Date: 2018-08

Variant appearance in text: DNMT3A: R771*
PubMed Link: 29967349
Variant Present in the following documents:
  • NIHMS964309-supplement-2.pdf
  • NIHMS964309-supplement-1.pdf
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: DNMT3A: 2311C>T; Arg771*
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
View BVdb publication page



Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget
Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J
Publication Date: 2018-05-29

Variant appearance in text: DNMT3A: 2311C>T; R771*
PubMed Link: 29899868
Variant Present in the following documents:
  • oncotarget-09-26417-s005.xlsx, sheet 1
View BVdb publication page



Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation.

Biomarker Research
Ng, Isaac Ks IK; Lee, Joanne J; Ng, Christopher C; Kosmo, Bustamin B; Chiu, Lily L; Seah, Elaine E; Mok, Michelle Meng Huang MMH; Tan, Karen K; Osato, Motomi M; Chng, Wee-Joo WJ; Yan, Benedict B; Tan, Lip Kun LK
Publication Date: 2018

Variant appearance in text: DNMT3A: 2311C>T
PubMed Link: 29780592
Variant Present in the following documents:
  • Main text
  • 40364_2018_Article_130.pdf
View BVdb publication page



Cellular stressors contribute to the expansion of hematopoietic clones of varying leukemic potential.

Nature Communications
Wong, Terrence N TN; Miller, Christopher A CA; Jotte, Matthew R M MRM; Bagegni, Nusayba N; Baty, Jack D JD; Schmidt, Amy P AP; Cashen, Amanda F AF; Duncavage, Eric J EJ; Helton, Nichole M NM; Fiala, Mark M; Fulton, Robert S RS; Heath, Sharon E SE; Janke, Megan M; Luber, Kierstin K; Westervelt, Peter P; Vij, Ravi R; DiPersio, John F JF; Welch, John S JS; Graubert, Timothy A TA; Walter, Matthew J MJ; Ley, Timothy J TJ; Link, Daniel C DC
Publication Date: 2018-01-31

Variant appearance in text: DNMT3A: R771*
PubMed Link: 29386642
Variant Present in the following documents:
  • 41467_2018_2858_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_2858_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.

Blood Cancer Journal
Martín, Iván I; Such, Esperanza E; Navarro, Blanca B; Villamón, Eva E; Vicente, Ana A; Mora, Elvira E; Pedrola, Laia L; Ibáñez, Mariam M; López-Pavía, María M; Tormo, Mar M; Serrano, Alicia A; Sanz, Miguel Ángel MÁ; Cervera, José J; Sanz, Guillermo G
Publication Date: 2017-11-20

Variant appearance in text: DNMT3A: 2311C>T; Arg771Ter
PubMed Link: 29235468
Variant Present in the following documents:
  • 41408_2017_16_MOESM1_ESM.pdf
View BVdb publication page



Single-cell RNA-seq reveals a distinct transcriptome signature of aneuploid hematopoietic cells.

Blood
Zhao, Xin X; Gao, Shouguo S; Wu, Zhijie Z; Kajigaya, Sachiko S; Feng, Xingmin X; Liu, Qingguo Q; Townsley, Danielle M DM; Cooper, James J; Chen, Jinguo J; Keyvanfar, Keyvan K; Fernandez Ibanez, Maria Del Pilar MDP; Wang, Xujing X; Young, Neal S NS
Publication Date: 2017-12-21

Variant appearance in text: DNMT3A: Arg771Ter
PubMed Link: 29030335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome.

Blood
Kulasekararaj, Austin G AG; Jiang, Jie J; Smith, Alexander E AE; Mohamedali, Azim M AM; Mian, Syed S; Gandhi, Shreyans S; Gaken, Joop J; Czepulkowski, Barbara B; Marsh, Judith C W JC; Mufti, Ghulam J GJ
Publication Date: 2014-10-23

Variant appearance in text: DNMT3A: R771X
PubMed Link: 25139356
Variant Present in the following documents:
  • Main text
View BVdb publication page