Publications:

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RAB27B controls palmitoylation-dependent NRAS trafficking and signaling in myeloid leukemia.

The Journal Of Clinical Investigation

Ren, Jian-Gang JG; Xing, Bowen B; Lv, Kaosheng K; O'Keefe, Rachel A RA; Wu, Mengfang M; Wang, Ruoxing R; Bauer, Kaylyn M KM; Ghazaryan, Arevik A; Burslem, George M GM; Zhang, Jing J; O'Connell, Ryan M RM; Pillai, Vinodh V; Hexner, Elizabeth O EO; Philips, Mark R MR; Tong, Wei W

Publication Date: 2023-06-15

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 37317963

Variant Present in the following documents:

• jci-133-165510-s058.xlsx, sheet 1

View BVdb publication page

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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: 2644C>T; Arg882Cys

PubMed Link: 37209535

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: DNMT3A: R882C

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1
• crc-22-0258-s07.pdf

View BVdb publication page

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Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii

Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L

Publication Date: 2023-03-17

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36932256

Variant Present in the following documents:

• 262_2023_3422_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Development of a Next-generation Sequencing-based Gene Panel Test to Detect Measurable Residual Disease in Acute Myeloid Leukemia.

Annals Of Laboratory Medicine

Kim, Jin Ju JJ; Jang, Ji Eun JE; Lee, Hyeon Ah HA; Park, Mi Ri MR; Kook, Hye Won HW; Lee, Seung-Tae ST; Choi, Jong Rak JR; Min, Yoo Hong YH; Shin, Saeam S; Cheong, June-Won JW

Publication Date: 2023-07-01

Variant appearance in text: DNMT3A: 2644C>T

PubMed Link: 36843401

Variant Present in the following documents:

• alm-43-4-328-supple6.pdf

View BVdb publication page

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Clinical utility of genomic profiling of AML using paraffin-embedded bone marrow clots: HM-SCREEN-Japan 01.

Cancer Science

Hosono, Naoko N; Chi, SungGi S; Yamauchi, Takahiro T; Fukushima, Kentaro K; Shibayama, Hirohiko H; Katagiri, Seiichiro S; Gotoh, Akihiko A; Eguchi, Motoki M; Morishita, Takanobu T; Ogasawara, Reiki R; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kobayashi, Tsutomu T; Kuroda, Junya J; Usuki, Kensuke K; Utsu, Yoshikazu Y; Yoshimitsu, Makoto M; Ishitsuka, Kenji K; Ono, Takaaki T; Takahashi, Naoto N; Iyama, Satoshi S; Kojima, Kensuke K; Nakamura, Yukinori Y; Fukuhara, Suguru S; Izutsu, Koji K; Abutani, Hikaru H; Yamauchi, Nobuhiko N; Yuda, Junichiro J; Minami, Yosuke Y; ,

Publication Date: 2023-02-15

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36793248

Variant Present in the following documents:

• Main text

View BVdb publication page

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Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: R882C

PubMed Link: 36751942

Variant Present in the following documents:

• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 2
• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 1
• cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4

View BVdb publication page

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Chromatin complex dependencies reveal targeting opportunities in leukemia.

Nature Communications

Najm, Fadi J FJ; DeWeirdt, Peter P; Moore, Molly M MM; Bevill, Samantha M SM; El Farran, Chadi A CA; Macias, Kevin A KA; Hegde, Mudra M; Waterbury, Amanda L AL; Liau, Brian B BB; van Galen, Peter P; Doench, John G JG; Bernstein, Bradley E BE

Publication Date: 2023-01-27

Variant appearance in text: DNMT3A: R882C; rs377577594

PubMed Link: 36707513

Variant Present in the following documents:

• 41467_2023_36150_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: DNMT3A: 2644C>T; Arg882Cys

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Single-cell analysis reveals the chemotherapy-induced cellular reprogramming and novel therapeutic targets in relapsed/refractory acute myeloid leukemia.

Leukemia

Li, Kening K; Du, Yuxin Y; Cai, Yun Y; Liu, Wenjie W; Lv, Yan Y; Huang, Bin B; Zhang, Lishen L; Wang, Zhi Z; Liu, Ping P; Sun, Qian Q; Li, Ning N; Zhu, Mengyan M; Bosco, Bakwatanisa B; Li, Liangyu L; Wu, Wei W; Wu, Lingxiang L; Li, Jianyong J; Wang, Qianghu Q; Hong, Ming M; Qian, Sixuan S

Publication Date: 2022-12-21

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 36543880

Variant Present in the following documents:

• 41375_2022_1789_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Autologous Hematopoietic Stem Cells Transplantation Combination-Based Chimeric Antigen Receptor T-Cell Therapy Improves Outcomes of Relapsed/Refractory Central Nervous System B-Cell Lymphoma.

Journal Of Oncology

Xue, Fei F; Zheng, Peihao P; Liu, Rui R; Feng, Shaomei S; Guo, Yuelu Y; Shi, Hui H; Liu, Haidi H; Deng, Biping B; Xu, Teng T; Ke, Xiaoyan X; Hu, Kai K

Publication Date: 2022

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36483984

Variant Present in the following documents:

• JO2022-2900310.pdf

View BVdb publication page

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Electrostatic anti-CD33-antibody-protamine nanocarriers as platform for a targeted treatment of acute myeloid leukemia.

Journal Of Hematology & Oncology

Bäumer, Nicole N; Scheller, Annika A; Wittmann, Lisa L; Faust, Andreas A; Apel, Mara M; Nimmagadda, Subbaiah Chary SC; Geyer, Christiane C; Grunert, Katharina K; Kellmann, Neele N; Peipp, Matthias M; Kailayangiri, Sareetha S; Gutierrez Suburu, Matias Ezequiel ME; Strassert, Cristian A CA; Schenk, Mathias M; Greune, Lilo L; Rüter, Christian C; Dersch, Petra P; Hartmann, Wolfgang W; Rossig, Claudia C; Neri, Dario D; Müller-Tidow, Carsten C; Schwöppe, Christian C; Schliemann, Christoph C; Khandanpour, Cyrus C; Lenz, Georg G; Berdel, Wolfgang E WE; Bäumer, Sebastian S

Publication Date: 2022-12-01

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36457063

Variant Present in the following documents:

• Main text
• 13045_2022_Article_1390.pdf

View BVdb publication page

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Retained functional normal and preleukemic HSCs at diagnosis are associated to good prognosis in DNMT3Amut NPM1mut AMLs.

Blood Advances

Donato, Elisa E; Correia, Nadia C NC; Andresen, Carolin C; Karpova, Darja D; Würth, Roberto R; Klein, Corinna C; Sohn, Markus M; Przybylla, Adriana A; Zeisberger, Petra P; Rothfelder, Kathrin K; Salih, Helmut R HR; Bonig, Halvard H; Stasik, Sebastian S; Röllig, Christoph C; Dolnik, Anna A; Bullinger, Lars L; Buchholz, Frank F; Thiede, Christian C; Hübschmann, Daniel D; Trumpp, Andreas A

Publication Date: 2022-12-01

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36453648

Variant Present in the following documents:

• BLOODA_ADV-2022-008497-mmc1.pdf

View BVdb publication page

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1
• pnas.2211429119.sapp.pdf

View BVdb publication page

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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: DNMT3A: 2644C>T; R882C

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: N/A

PubMed Link: 36353970

Variant Present in the following documents:

View BVdb publication page

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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: 2644C>T; Arg882Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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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: R882C

PubMed Link: 36325893

Variant Present in the following documents:

• 108969.pdf

View BVdb publication page

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A Novel t(5;7)(q31;q21)/CDK6::IL3 in Immature T-cell Acute Lymphoblastic Leukemia With IL3 Expression and Eosinophilia.

Hemasphere

Pierini, Valentina V; Bardelli, Valentina V; Giglio, Fabio F; Arniani, Silvia S; Matteucci, Caterina C; Pellanera, Fabrizia F; Quintini, Martina M; Crescenzi, Barbara B; Bruno, Alessandro A; Sabattini, Elena E; Falcinelli, Emanuela E; Ruggeri, Loredana L; Ronchi, Paola P; Ponzoni, Maurilio M; Ciceri, Fabio F; Mecucci, Cristina C; La Starza, Roberta R

Publication Date: 2022-11

Variant appearance in text: DNMT3A: 2644C>T; Arg882Cys

PubMed Link: 36285071

Variant Present in the following documents:

• Main text
• hs9-6-e795.pdf

View BVdb publication page

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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: 2644C>T; Arg882Cys

PubMed Link: 36281508

Variant Present in the following documents:

• alm-43-2-145-supple2.pdf

View BVdb publication page

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bMSAF is a prognostic predictor for advanced hepatocellular carcinoma patients treated with immune checkpoint inhibitor camrelizumab and anti-angiogenic agent apatinib combination therapy.

Clinical And Translational Medicine

Xu, Gehan G; Cui, Liang L; Li, Jin J; Wang, Quanren Q; Li, Pansong P; Xia, Xuefeng X; Yi, Xin X; Guan, Quanlin Q; Xu, Jianming J

Publication Date: 2022-10

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 36245284

Variant Present in the following documents:

• CTM2-12-e1086-s010.xlsx, sheet 7

View BVdb publication page

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Clonal hematopoiesis by DNMT3A mutations as a common finding in idiopathic splanchnic vein thrombosis.

Haematologica

Carrà, Giovanna G; Giugliano, Emilia E; Camerlo, Sofia S; Rosati, Giorgio G; Branca, Enrica E; Maffeo, Beatrice B; Russo, Isabella I; Piazza, Rocco R; Cilloni, Daniela D; Morotti, Alessandro A

Publication Date: 2022-10-13

Variant appearance in text: DNMT3A: Arg882Cys

PubMed Link: 36226499

Variant Present in the following documents:

• 1081447.pdf

View BVdb publication page

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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: 2644C>T; Arg882Cys

PubMed Link: 36184726

Variant Present in the following documents:

• 11357_2022_666_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Activity of menin inhibitor ziftomenib (KO-539) as monotherapy or in combinations against AML cells with MLL1 rearrangement or mutant NPM1.

Leukemia

Fiskus, Warren W; Daver, Naval N; Boettcher, Steffen S; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Das, Kaberi K; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Burrows, Francis F; Loghavi, Sanam S; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN

Publication Date: 2022-11

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36151141

Variant Present in the following documents:

• Main text
• 41375_2022_Article_1707.pdf

View BVdb publication page

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Clonal hematopoiesis of indeterminate potential and risk of death from COVID-19.

Blood

Miller, Peter G PG; Fell, Geoffrey G GG; Foy, Brody H BH; Scherer, Allison K AK; Gibson, Christopher J CJ; Sperling, Adam S AS; Burugula, Bala B BB; Nakao, Tetsushi T; Uddin, Md M MM; Warren, Hailey H; Bry, Lynn L; Pozdnyakova, Olga O; Frigault, Matthew J MJ; Bick, Alex G AG; Neuberg, Donna D; Higgins, John M JM; Mansour, Michael K MK; Natarajan, Pradeep P; Kim, Annette S AS; Kitzman, Jacob O JO; Ebert, Benjamin L BL

Publication Date: 2022-11-03

Variant appearance in text: DNMT3A: R882C

PubMed Link: 36096050

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 7

View BVdb publication page

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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: R882C

PubMed Link: 36051087

Variant Present in the following documents:

• JHA2-3-794-s003.xlsx, sheet 1

View BVdb publication page

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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: 2644C>T; R882C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal haematopoiesis of indeterminate potential-related mutations and outcome in dilated and ischaemic cardiomyopathy.

Esc Heart Failure

Wu, Jasmine M F JMF; Bekfani, Tarek T; Hinze, Anna A; Westphal, Julian Georg JG; Steinacker, Berit B; Zeller, Max M; Hartmann, Charlotte C; Möbius-Winkler, Sven S; Hochhaus, Andreas A; Schulze, P Christian PC; Ernst, Thomas T

Publication Date: 2022-08-18

Variant appearance in text: DNMT3A: 2644C>T; R882C; rs377577594

PubMed Link: 35979940

Variant Present in the following documents:

• EHF2-9-3954-s001.xlsx, sheet 1

View BVdb publication page

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Distinguishing STAT3/STAT5B Mutated Large Granular Lymphocyte Leukemia from Myeloid Neoplasms by Genetic Profiling.

Blood Advances

Kavesh, Mark M; Mohebnasab, Maedeh M; Angel, Marcela Riveros MR; Xie, Wei W; Raess, Philipp W PW; Cui, Wei W; Press, Richard D RD; Yang, Guang G; Li, Peng P

Publication Date: 2022-08-08

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 35939786

Variant Present in the following documents:

• BLOODA_ADV-2022-008192-mmc1.pdf

View BVdb publication page

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The circulating tumor DNA (ctDNA) alteration level predicts therapeutic response in metastatic breast cancer: Novel prognostic indexes based on ctDNA.

Breast (Edinburgh, Scotland)

Liu, Binliang B; Hu, Zheyu Z; Ran, Jialu J; Xie, Ning N; Tian, Can C; Tang, Yu Y; Ouyang, Quchang Q

Publication Date: 2022-10

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35926241

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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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: R882C; rs377577594

PubMed Link: 35922444

Variant Present in the following documents:

• 41375_2022_1650_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.

Leukemia

Schönfeld, Lioba L; Rinke, Jenny J; Hinze, Anna A; Nagel, Saskia N SN; Schäfer, Vivien V; Schenk, Thomas T; Fabisch, Christian C; Brümmendorf, Tim H TH; Burchert, Andreas A; le Coutre, Philipp P; Krause, Stefan W SW; Saussele, Susanne S; Safizadeh, Fatemeh F; Pfirrmann, Markus M; Hochhaus, Andreas A; Ernst, Thomas T

Publication Date: 2022-09

Variant appearance in text: rs377577594

PubMed Link: 35902731

Variant Present in the following documents:

• 41375_2022_1648_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine

Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG

Publication Date: 2022-07-21

Variant appearance in text: DNMT3A: Arg882Cys; rs377577594

PubMed Link: 35861108

Variant Present in the following documents:

• Main text
• CAM4-12-1972-s008.xlsx, sheet 1
• CAM4-12-1972.pdf

View BVdb publication page

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Cell-free DNA 5-hydroxymethylcytosine is an emerging marker of acute myeloid leukemia.

Scientific Reports

Shao, Jianming J; Wang, Sihan S; West-Szymanski, Diana D; Karpus, Jason J; Shah, Shilpan S; Ganguly, Siddhartha S; Smith, Janice J; Zu, Youli Y; He, Chuan C; Li, Zejuan Z

Publication Date: 2022-07-20

Variant appearance in text: DNMT3A: 2644C>T; Arg882Cys

PubMed Link: 35859008

Variant Present in the following documents:

• 41598_2022_16685_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: DNMT3A: R882C

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.

Nature Communications

Chen, Lei L; Eriksson, Anna A; Weström, Simone S; Pandzic, Tatjana T; Lehmann, Sören S; Cavelier, Lucia L; Landegren, Ulf U

Publication Date: 2022-07-12

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35821208

Variant Present in the following documents:

• Main text
• 41467_2022_31397_MOESM1_ESM.pdf
• 41467_2022_Article_31397.pdf
• 41467_2022_31397_MOESM4_ESM.xlsx, sheet 18

View BVdb publication page

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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: DNMT3A: R882C; rs377577594

PubMed Link: 35731890

Variant Present in the following documents:

• EMS146397-supplement-Supplementary_Tables.xlsx, sheet 4

View BVdb publication page

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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: R882C

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, 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: DNMT3A: R882C

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM8_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
• 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM13_ESM.xlsx, sheet 4

View BVdb publication page

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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: 2644C>T; Arg882Cys

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: DNMT3A: 2644C>T; R882C

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

Immunity & Ageing : I & A

Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO

Publication Date: 2022-05-24

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35610705

Variant Present in the following documents:

• 12979_2022_278_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Acute lymphoblastic leukemia displays a distinct highly methylated genome.

Nature Cancer

Hetzel, Sara S; Mattei, Alexandra L AL; Kretzmer, Helene H; Qu, Chunxu C; Chen, Xiang X; Fan, Yiping Y; Wu, Gang G; Roberts, Kathryn G KG; Luger, Selina S; Litzow, Mark M; Rowe, Jacob J; Paietta, Elisabeth E; Stock, Wendy W; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Mullighan, Charles G CG; Meissner, Alexander A

Publication Date: 2022-06

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35590059

Variant Present in the following documents:

• 43018_2022_370_MOESM3_ESM.xlsx, sheet 11

View BVdb publication page

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Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10
• CAS-113-2763-s003.xlsx, sheet 6

View BVdb publication page

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Myeloma Genome Project Panel is a Comprehensive Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Sudha, Parvathi P; Ahsan, Aarif A; Ashby, Cody C; Kausar, Tasneem T; Khera, Akhil A; Kazeroun, Mohammad H MH; Hsu, Chih-Chao CC; Wang, Lin L; Fitzsimons, Evelyn E; Salminen, Outi O; Blaney, Patrick P; Czader, Magdalena M; Williams, Jonathan J; Abu Zaid, Mohammad I MI; Ansari-Pour, Naser N; Yong, Kwee L KL; van Rhee, Frits F; Pierceall, William E WE; Morgan, Gareth J GJ; Flynt, Erin E; Gooding, Sarah S; Abonour, Rafat R; Ramasamy, Karthik K; Thakurta, Anjan A; Walker, Brian A BA

Publication Date: 2022-07-01

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35522533

Variant Present in the following documents:

• ccr-21-3695_supplementary_table_ts4_suppts4.pdf

View BVdb publication page

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Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Blood

Sperling, Adam S AS; Guerra, Veronica A VA; Kennedy, James A JA; Yan, Yuanqing Y; Hsu, Joanne I JI; Wang, Feng F; Nguyen, Andrew T AT; Miller, Peter G PG; McConkey, Marie E ME; Quevedo Barrios, Vanessa A VA; Furudate, Ken K; Zhang, Linda L; Kanagal-Shamanna, Rashmi R; Zhang, Jianhua J; Little, Latasha L; Gumbs, Curtis C; Daver, Naval N; DiNardo, Courtney D CD; Kadia, Tapan T; Ravandi, Farhad F; Kantarjian, Hagop H; Garcia-Manero, Guillermo G; Futreal, P Andrew PA; Ebert, Benjamin L BL; Takahashi, Koichi K

Publication Date: 2022-10-20

Variant appearance in text: DNMT3A: R882C

PubMed Link: 35512188

Variant Present in the following documents:

• BLOOD_BLD-2021-014956-mmc1.pdf

View BVdb publication page

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