DNMT3A c.2711C>T ;(p.P904L)

Variant ID: 2-25457176-G-A

NM_022552.4(DNMT3A):c.2711C>T;(p.P904L)

This variant was identified in 90 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: 2711C>T; Pro904Leu
PubMed Link: 37209535
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Melanoma in a patient with DNMT3A overgrowth syndrome.

Cold Spring Harbor Molecular Case Studies
Chen, David Y DY; Sutton, Leslie A LA; Ramakrishnan, Sai Mukund SM; Duncavage, Eric J EJ; Heath, Sharon E SE; Compton, Leigh A LA; Miller, Christopher A CA; Ley, Timothy J TJ
Publication Date: 2023-04

Variant appearance in text: DNMT3A: P904L
PubMed Link: 37160317
Variant Present in the following documents:
  • Main text
  • MCS006267Che.pdf
View BVdb publication page



Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits.

Biorxiv : The Preprint Server For Biology
Beard, Diana C DC; Zhang, Xiyun X; Wu, Dennis Y DY; Martin, Jenna R JR; Hamagami, Nicole N; Swift, Raylynn G RG; McCullough, Katherine B KB; Ge, Xia X; Bell-Hensley, Austin A; Zheng, Hongjun H; Lawrence, Austin B AB; Hill, Cheryl A CA; Papouin, Thomas T; McAlinden, Audrey A; Garbow, Joel R JR; Dougherty, Joseph D JD; Maloney, Susan E SE; Gabel, Harrison W HW
Publication Date: 2023-02-27

Variant appearance in text: DNMT3A: P904L
PubMed Link: 36909558
Variant Present in the following documents:
  • Main text
  • nihpp-2023.02.27.530041v1.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: P904L
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



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: 2711C>T; Pro904Leu
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: DNMT3A: P904L
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc3.xlsx, sheet 24
View BVdb publication page



Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.

Nature Communications
Sivakumar, Smruthy S; Jin, Dexter X DX; Tukachinsky, Hanna H; Murugesan, Karthikeyan K; McGregor, Kimberly K; Danziger, Natalie N; Pavlick, Dean D; Gjoerup, Ole O; Ross, Jeffrey S JS; Harmon, Robert R; Chung, Jon J; Decker, Brennan B; Dennis, Lucas L; Frampton, Garrett M GM; Molinero, Luciana L; Oesterreich, Steffi S; Venstrom, Jeffrey M JM; Oxnard, Geoffrey R GR; Hegde, Priti S PS; Sokol, Ethan S ES
Publication Date: 2022-12-05

Variant appearance in text: DNMT3A: P904L
PubMed Link: 36470901
Variant Present in the following documents:
  • 41467_2022_35245_MOESM4_ESM.xlsx, sheet 17
View BVdb publication page



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: 2711C>T; Pro904Leu
PubMed Link: 36442087
Variant Present in the following documents:
  • pnas.2211429119.sd02.xlsx, sheet 1
View BVdb publication page



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: 2711C>T; P904L
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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



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: 2711C>T; Pro904Leu
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: 2711C>T; P904L
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Inhibition of the Phosphatidylinositol-3 Kinase Pathway Using Bimiralisib in Loss-of-Function NOTCH1-Mutant Head and Neck Cancer.

The Oncologist
Johnson, Faye M FM; Janku, Filip F; Gouda, Mohamed A MA; Tran, Hai T HT; Kawedia, Jitesh D JD; Schmitz, Debora D; Streefkerk, Hendrik H; Lee, J Jack JJ; Andersen, Clark R CR; Deng, Defeng D; Rawal, Seema S; Shah, Pooja A PA; El-Naggar, Adel K AK; Johnson, Jason M JM; Frederick, Mitchell J MJ
Publication Date: 2022-09-16

Variant appearance in text: DNMT3A: P904L
PubMed Link: 36124629
Variant Present in the following documents:
  • Main text
  • oyac185.pdf
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: 2711C>T; P904L
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: 2711C>T; P904L
PubMed Link: 35939786
Variant Present in the following documents:
  • BLOODA_ADV-2022-008192-mmc1.pdf
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: P904L; rs149095705
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: P904L
PubMed Link: 35914495
Variant Present in the following documents:
  • Main text
  • nihms-1844660.pdf
View BVdb publication page



Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Ejhaem
Cheng, Chi-Keung CK; Lai, Jennifer W Y JWY; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Wong, Raymond S M RSM; Chan, Natalie P H NPH; Cheung, Joyce S JS; Luo, Xi X; Pitts, Herbert-Augustus HA; Ng, Margaret H L MHL
Publication Date: 2022-02

Variant appearance in text: DNMT3A: 2711C>T; P904L; rs149095705
PubMed Link: 35846205
Variant Present in the following documents:
  • JHA2-3-184-s002.xlsx, sheet 1
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: P904L
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Therapy-related clonal cytopenia as a precursor to therapy-related myeloid neoplasms.

Blood Cancer Journal
Shah, Mithun Vinod MV; Mangaonkar, Abhishek A AA; Begna, Kebede H KH; Alkhateeb, Hassan B HB; Greipp, Patricia P; Nanaa, Ahmad A; Elliott, Michelle A MA; Hogan, William J WJ; Litzow, Mark R MR; McCullough, Kristen K; Tefferi, Ayalew A; Gangat, Naseema N; Patnaik, Mrinal M MM; Al-Kali, Aref A; He, Rong R; Chen, Dong D
Publication Date: 2022-07-08

Variant appearance in text: DNMT3A: 2711C>T; Pro904Leu
PubMed Link: 35803921
Variant Present in the following documents:
  • 41408_2022_703_MOESM2_ESM.pdf
View BVdb publication page



Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.

Blood Advances
Calvo, Xavier X; Roman-Bravo, David D; Garcia-Gisbert, Nieves N; Rodriguez-Sevilla, Juan Jose JJ; Garcia-Avila, Sara S; Florensa, Lourdes L; Gibert, Joan J; Fernández-Rodríguez, Concepción C; Salido, Marta M; Puiggros, Anna A; Espinet, Blanca B; Colomo, Luis L; Bellosillo, Beatriz B; Ferrer, Ana A; Arenillas, Leonor L
Publication Date: 2022-07-12

Variant appearance in text: DNMT3A: 2711C>T; Pro904Leu
PubMed Link: 35709473
Variant Present in the following documents:
  • advancesADV2022007359-suppl1.pdf
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: P904L
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
  • 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Clonal dynamics of haematopoiesis across the human lifespan.

Nature
Mitchell, Emily E; Spencer Chapman, Michael M; Williams, Nicholas N; Dawson, Kevin J KJ; Mende, Nicole N; Calderbank, Emily F EF; Jung, Hyunchul H; Mitchell, Thomas T; Coorens, Tim H H THH; Spencer, David H DH; Machado, Heather H; Lee-Six, Henry H; Davies, Megan M; Hayler, Daniel D; Fabre, Margarete A MA; Mahbubani, Krishnaa K; Abascal, Federico F; Cagan, Alex A; Vassiliou, George S GS; Baxter, Joanna J; Martincorena, Inigo I; Stratton, Michael R MR; Kent, David G DG; Chatterjee, Krishna K; Parsy, Kourosh Saeb KS; Green, Anthony R AR; Nangalia, Jyoti J; Laurenti, Elisa E; Campbell, Peter J PJ
Publication Date: 2022-06

Variant appearance in text: DNMT3A: P904L; rs149095705
PubMed Link: 35650442
Variant Present in the following documents:
  • 41586_2022_4786_MOESM9_ESM.xlsx, sheet 1
  • 41586_2022_4786_MOESM11_ESM.xlsx, sheet 1
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: 2711C>T; Pro904Leu
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: P904L
PubMed Link: 35610705
Variant Present in the following documents:
  • 12979_2022_278_MOESM2_ESM.xlsx, sheet 1
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: 2711C>T; P904L
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: 2711C>T; Pro904Leu
PubMed Link: 35390146
Variant Present in the following documents:
  • BLOODA_ADV-2021-006498-mmc1.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: 2711C>T; P904L
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Misregulation of the expression and activity of DNA methyltransferases in cancer.

Nar Cancer
Mensah, Isaiah K IK; Norvil, Allison B AB; AlAbdi, Lama L; McGovern, Sarah S; Petell, Christopher J CJ; He, Ming M; Gowher, Humaira H
Publication Date: 2021-12

Variant appearance in text: DNMT3A: Pro904Leu
PubMed Link: 34870206
Variant Present in the following documents:
  • Main text
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: P904L
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.pdf
View BVdb publication page



Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Publication Date: 2021-11-21

Variant appearance in text: DNMT3A: P904L; rs149095705
PubMed Link: 34802461
Variant Present in the following documents:
  • 40246_2021_368_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Genetic and epigenetic characterization of posterior pituitary tumors.

Acta Neuropathologica
Schmid, Simone S; Solomon, David A DA; Perez, Eilis E; Thieme, Anne A; Kleinschmidt-DeMasters, Bette K BK; Giannini, Caterina C; Reinhardt, Annekathrin A; Asa, Sylvia L SL; Mete, Ozgur O; Stichel, Damian D; Siewert, Christin C; Dittmayer, Carsten C; Hasselblatt, Martin M; Paulus, Werner W; Nagel, Christoph C; Harter, Patrick N PN; Schittenhelm, Jens J; Honegger, Jürgen J; Rushing, Elisabeth E; Coras, Roland R; Pfister, Stefan M SM; Buslei, Rolf R; Koch, Arend A; Perry, Arie A; Jones, David T W DTW; von Deimling, Andreas A; Capper, David D; Lopes, M Beatriz MB
Publication Date: 2021-12

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 34661724
Variant Present in the following documents:
  • Main text
  • 401_2021_2377_MOESM9_ESM.xlsx, sheet 1
  • 401_2021_Article_2377.pdf
View BVdb publication page



Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing.

Cancer Reports (Hoboken, N.J.)
Lit, Benny Man Wai BMW; Guo, Belinda B BB; Malherbe, Jacques A J JAJ; Kwong, Yok Lam YL; Erber, Wendy N WN
Publication Date: 2022-10

Variant appearance in text: DNMT3A: P904L
PubMed Link: 34617422
Variant Present in the following documents:
  • Main text
  • CNR2-5-e1573.pdf
View BVdb publication page



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: DNMT3A: 2711C>T; Pro904Leu
PubMed Link: 34587721
Variant Present in the following documents:
  • 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf
View BVdb publication page



Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Cancer Discovery
Huang, Yung-Hsin YH; Chen, Chun-Wei CW; Sundaramurthy, Venkatasubramaniam V; Słabicki, Mikołaj M; Hao, Dapeng D; Watson, Caroline J CJ; Tovy, Ayala A; Reyes, Jaime M JM; Dakhova, Olga O; Crovetti, Brielle R BR; Galonska, Christina C; Lee, Minjung M; Brunetti, Lorenzo L; Zhou, Yubin Y; Tatton-Brown, Katrina K; Huang, Yun Y; Cheng, Xiaodong X; Meissner, Alexander A; Valk, Peter J M PJM; Van Maldergem, Lionel L; Sanders, Mathijs A MA; Blundell, Jamie R JR; Li, Wei W; Ebert, Benjamin L BL; Goodell, Margaret A MA
Publication Date: 2022-01

Variant appearance in text: DNMT3A: P904L
PubMed Link: 34429321
Variant Present in the following documents:
  • Main text
  • 220.pdf
View BVdb publication page



Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer
Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z
Publication Date: 2021-05-27

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 34044811
Variant Present in the following documents:
  • 12885_2021_8383_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Sensitivity, specificity, and accuracy of a liquid biopsy approach utilizing molecular amplification pools.

Scientific Reports
Garcia, Jessica J; Kamps-Hughes, Nick N; Geiguer, Florence F; Couraud, Sébastien S; Sarver, Brice B; Payen, Léa L; Ionescu-Zanetti, Cristian C
Publication Date: 2021-05-24

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 34031447
Variant Present in the following documents:
  • 41598_2021_89592_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: DNMT3A: 2711C>T; P904L; rs149095705
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 33546774
Variant Present in the following documents:
  • 40164_2021_200_MOESM2_ESM.xlsx, sheet 1
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: 2711C>T; P904L
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: DNMT3A: P904L
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: DNMT3A: P904L
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S6.xlsx, sheet 1
  • abe3722_Table_S3.xlsx, sheet 3
  • abe3722_Table_S3.xlsx, sheet 5
  • abe3722_Table_S7.xlsx, sheet 1
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: rs149095705
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
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: 2711C>T; P904L; rs149095705
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
View BVdb publication page



DNMT3A Haploinsufficiency Results in Behavioral Deficits and Global Epigenomic Dysregulation Shared across Neurodevelopmental Disorders.

Cell Reports
Christian, Diana L DL; Wu, Dennis Y DY; Martin, Jenna R JR; Moore, J Russell JR; Liu, Yiran R YR; Clemens, Adam W AW; Nettles, Sabin A SA; Kirkland, Nicole M NM; Papouin, Thomas T; Hill, Cheryl A CA; Wozniak, David F DF; Dougherty, Joseph D JD; Gabel, Harrison W HW
Publication Date: 2020-11-24

Variant appearance in text: DNMT3A: P904L
PubMed Link: 33238114
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: DNMT3A: 2711C>T; P904L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Molecular Genetic Analysis With Flow Cytometry Sorting Identifies Angioimmunoblastic T-Cell Lymphoma and Concomitant De Novo Myelodysplastic Syndrome Arising From the Same Hematopoietic Progenitor.

Journal Of Hematology
Naganuma, Ken K; Chan, Alexander A; Zhang, Yanming Y; Lewis, Natasha N; Xiao, Wenbin W; Roshal, Mikhail M; Dogan, Ahmet A; Kizaki, Masahiro M; Ho, Caleb C; Yabe, Mariko M
Publication Date: 2020-12

Variant appearance in text: DNMT3A: P904L
PubMed Link: 33224395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural aberrations are associated with poor survival in patients with clonal cytopenia of undetermined significance.

Haematologica
Mikkelsen, Stine U SU; Safavi, Setareh S; Dimopoulos, Konstantinos K; O'Rourke, Colm J CJ; Andersen, Mette K MK; Holm, Mette S MS; Marcher, Claus W CW; Andersen, Jesper B JB; Hansen, Jakob W JW; Grønbæk, Kirsten K
Publication Date: 2021-06-01

Variant appearance in text: DNMT3A: 2711C>T; Pro904Leu
PubMed Link: 33179473
Variant Present in the following documents:
  • 2020_263319_MIKKELSEN_SUPPL.pdf
View BVdb publication page



Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wright, Caroline F CF; Eberhardt, Ruth Y RY; Constantinou, Panayiotis P; Hurles, Matthew E ME; FitzPatrick, David R DR; Firth, Helen V HV; ,
Publication Date: 2021-03

Variant appearance in text: DNMT3A: 2711C>T; Pro904Leu
PubMed Link: 33149276
Variant Present in the following documents:
  • 41436_2020_1021_MOESM1_ESM.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: 2711C>T; P904L
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: P904L
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: P904L
PubMed Link: 32994141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: rs149095705
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
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: P904L
PubMed Link: 32736382
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: DNMT3A: P904L
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page