DNMT3A c.2245C>T ;(p.R749C)

Variant ID: 2-25463248-G-A

NM_022552.4(DNMT3A):c.2245C>T;(p.R749C)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


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: 2245C>T; R749C
PubMed Link: 37160317
Variant Present in the following documents:
  • Main text
  • MCS006267Che.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: R749C
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 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: 2245C>T; Arg749Cys
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
View BVdb publication page



Frequent somatic mosaicism in T lymphocyte subsets in individuals with and without multiple sclerosis.

Frontiers In Immunology
Van Horebeek, Lies L; Dedoncker, Nina N; Dubois, Bénédicte B; Goris, An A
Publication Date: 2022

Variant appearance in text: DNMT3A: R749C
PubMed Link: 36618380
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 4
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: DNMT3A: 2245C>T; Arg749Cys; rs754613602
PubMed Link: 36353970
Variant Present in the following documents:
  • Main text
  • CGE-103-247-s002.xlsx, sheet 1
  • CGE-103-247-s001.xlsx, sheet 1
  • CGE-103-247.pdf
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: 2245C>T; Arg749Cys
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.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: 2245C>T; R749C
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_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: R749C
PubMed Link: 35922444
Variant Present in the following documents:
  • 41375_2022_1650_MOESM2_ESM.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: R749C
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



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: R749C
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: R749C
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
  • 41586_2022_4785_MOESM13_ESM.xlsx, sheet 3
View BVdb publication page



The Impact of Comprehensive Genomic Profiling (CGP) on the Decision-Making Process in the Treatment of ALK-Rearranged Advanced Non-Small Cell Lung Cancer (aNSCLC) After Failure of 2nd/3rd-Generation ALK Tyrosine Kinase Inhibitors (TKIs).

Frontiers In Oncology
Raphael, Ari A; Onn, Amir A; Holtzman, Liran L; Dudnik, Julia J; Urban, Damien D; Kian, Waleed W; Cohen, Aharon Y AY; Moskovitz, Mor M; Zer, Alona A; Bar, Jair J; Rabinovich, Natalie Maimon NM; Grynberg, Shirly S; Oedegaard, Cecilie C; Agbarya, Abed A; Peled, Nir N; Shochat, Tzippy T; Dudnik, Elizabeth E
Publication Date: 2022

Variant appearance in text: DNMT3A: R749C
PubMed Link: 35646707
Variant Present in the following documents:
  • Table_2.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: 2245C>T; Arg749Cys
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.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: 2245C>T; Arg749Cys
PubMed Link: 35390146
Variant Present in the following documents:
  • BLOODA_ADV-2021-006498-mmc1.pdf
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: R749C
PubMed Link: 34855941
Variant Present in the following documents:
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
  • bloodBLD2021013531-suppl1.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: 2245C>T; Arg749Cys
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: R749C
PubMed Link: 34429321
Variant Present in the following documents:
  • Main text
  • 220.pdf
View BVdb publication page



Clonal hematopoiesis associated with epigenetic aging and clinical outcomes.

Aging Cell
Nachun, Daniel D; Lu, Ake T AT; Bick, Alexander G AG; Natarajan, Pradeep P; Weinstock, Joshua J; Szeto, Mindy D MD; Kathiresan, Sekar S; Abecasis, Goncalo G; Taylor, Kent D KD; Guo, Xiuqing X; Tracy, Russ R; Durda, Peter P; Liu, Yongmei Y; Johnson, Craig C; Rich, Stephen S SS; Van Den Berg, David D; Laurie, Cecilia C; Blackwell, Tom T; Papanicolaou, George J GJ; Correa, Adolfo A; Raffield, Laura M LM; Johnson, Andrew D AD; Murabito, Joanne J; Manson, JoAnn E JE; Desai, Pinkal P; Kooperberg, Charles C; Assimes, Themistocles L TL; Levy, Daniel D; Rotter, Jerome I JI; Reiner, Alex P AP; Whitsel, Eric A EA; Wilson, James G JG; Horvath, Steve S; Jaiswal, Siddhartha S; ,
Publication Date: 2021-06

Variant appearance in text: DNMT3A: R749C
PubMed Link: 34050697
Variant Present in the following documents:
  • ACEL-20-e13366-s001.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: 2245C>T; R749C; rs754613602
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: R749C
PubMed Link: 33238114
Variant Present in the following documents:
  • Main text
  • nihms-1649680.pdf
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: 2245C>T; R749C
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: R749C
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: R749C
PubMed Link: 32994141
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: DNMT3A: 2245C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Sensitive and broadly applicable residual disease detection in acute myeloid leukemia using flow cytometry-based leukemic cell enrichment followed by mutational profiling.

American Journal Of Hematology
Daga, Shruti S; Rosenberger, Angelika A; Kashofer, Karl K; Heitzer, Ellen E; Quehenberger, Franz F; Halbwedl, Iris I; Graf, Ricarda R; Krisper, Nina N; Prietl, Barbara B; Höfler, Gerald G; Reinisch, Andreas A; Zebisch, Armin A; Sill, Heinz H; Wölfler, Albert A
Publication Date: 2020-06-29

Variant appearance in text: DNMT3A: R749C
PubMed Link: 32602117
Variant Present in the following documents:
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: R749C
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: DNMT3A: 2245C>T; R749C
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: DNMT3A: 2245C>T; rs754613602
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: R749C
PubMed Link: 31988276
Variant Present in the following documents:
  • 41467_2020_14310_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 7
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8
  • 41467_2020_14310_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM10_ESM.xlsx, sheet 1
  • 41467_2020_14310_MOESM6_ESM.xlsx, sheet 6
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: 2245C>T; R749C
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: DNMT3A: 2245C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Genome Research
Jeffries, Aaron R AR; Maroofian, Reza R; Salter, Claire G CG; Chioza, Barry A BA; Cross, Harold E HE; Patton, Michael A MA; Dempster, Emma E; Temple, I Karen IK; Mackay, Deborah J G DJG; Rezwan, Faisal I FI; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Hunter, Matthew F MF; Kamath, Arveen A; Kumar, Ajith A; Newbury-Ecob, Ruth R; Selicorni, Angelo A; Springer, Amanda A; Van Maldergem, Lionel L; Varghese, Vinod V; Yachelevich, Naomi N; Tatton-Brown, Katrina K; Mill, Jonathan J; Crosby, Andrew H AH; Baple, Emma L EL
Publication Date: 2019-07

Variant appearance in text: DNMT3A: 2245C>T; Arg749Cys
PubMed Link: 31160375
Variant Present in the following documents:
  • 1057.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: R749C
PubMed Link: 29988082
Variant Present in the following documents:
  • NIHMS77608-supplement-Supplementary_Table_2.xlsx, sheet 2
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: 2245C>T; Arg749Cys
PubMed Link: 29945233
Variant Present in the following documents:
  • bty518_supplementary_data_s2.xlsx, sheet 8
View BVdb publication page



The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research
Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N
Publication Date: 2018

Variant appearance in text: DNMT3A: 2245C>T; Arg749Cys
PubMed Link: 29900417
Variant Present in the following documents:
  • Main text
  • wellcomeopenres-3-15708.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: R749C
PubMed Link: 29386642
Variant Present in the following documents:
  • 41467_2018_2858_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_2858_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: DNMT3A: R749C
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American Journal Of Human Genetics
Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N
Publication Date: 2017-05-04

Variant appearance in text: DNMT3A: 2245C>T; Arg749Cys
PubMed Link: 28475857
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: DNMT3A: 2245C>T; R749C
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Human Mutation
Carlston, Colleen M CM; O'Donnell-Luria, Anne H AH; Underhill, Hunter R HR; Cummings, Beryl B BB; Weisburd, Ben B; Minikel, Eric V EV; Birnbaum, Daniel P DP; , ; Tvrdik, Tatiana T; MacArthur, Daniel G DG; Mao, Rong R
Publication Date: 2017-05

Variant appearance in text: DNMT3A: Arg749Cys
PubMed Link: 28229513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: DNMT3A: 2245C>T; R749C
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
View BVdb publication page



Targeted mutational profiling of peripheral T-cell lymphoma not otherwise specified highlights new mechanisms in a heterogeneous pathogenesis.

Leukemia
Schatz, J H JH; Horwitz, S M SM; Teruya-Feldstein, J J; Lunning, M A MA; Viale, A A; Huberman, K K; Socci, N D ND; Lailler, N N; Heguy, A A; Dolgalev, I I; Migliacci, J C JC; Pirun, M M; Palomba, M L ML; Weinstock, D M DM; Wendel, H-G HG
Publication Date: 2015-01

Variant appearance in text: DNMT3A: R749C
PubMed Link: 25257991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Nature Genetics
Tatton-Brown, Katrina K; Seal, Sheila S; Ruark, Elise E; Harmer, Jenny J; Ramsay, Emma E; Del Vecchio Duarte, Silvana S; Zachariou, Anna A; Hanks, Sandra S; O'Brien, Eleanor E; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Kumar, Ajith A; Pilz, Daniela T DT; Selicorni, Angelo A; Temple, I Karen IK; Van Maldergem, Lionel L; Yachelevich, Naomi N; , ; van Montfort, Robert R; Rahman, Nazneen N
Publication Date: 2014-04

Variant appearance in text: DNMT3A: 2245C>T; Arg749Cys
PubMed Link: 24614070
Variant Present in the following documents:
  • Main text
  • emss-57002.pdf
  • NIHMS57002-supplement-1.pdf
View BVdb publication page



Rare mutations in DNMT3A in myeloproliferative neoplasms and myelodysplastic syndromes.

Blood Cancer Journal
Brecqueville, M M; Cervera, N N; Gelsi-Boyer, V V; Murati, A A; Adélaïde, J J; Chaffanet, M M; Rey, J J; Vey, N N; Mozziconacci, M J MJ; Birnbaum, D D
Publication Date: 2011-05

Variant appearance in text: DNMT3A: Arg749Cys
PubMed Link: 22829153
Variant Present in the following documents:
  • Main text
  • bcj201115a.pdf
View BVdb publication page