Publications:

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: DNMT3A: R720C

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: DNMT3A: 2158C>T; Arg720Cys

PubMed Link: 36425562

Variant Present in the following documents:

• Table_4.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: R720C

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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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: R720C

PubMed Link: 34429321

Variant Present in the following documents:

• 220.pdf

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: DNMT3A: R720C

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

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

Nature Communications

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

Publication Date: 2021-01-04

Variant appearance in text: DNMT3A: 2158C>T; R720C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Cancers

Mellid, Sara S; Coloma, Javier J; Calsina, Bruna B; Monteagudo, María M; Roldán-Romero, Juan M JM; Santos, María M; Leandro-García, Luis J LJ; Lanillos, Javier J; Martínez-Montes, Ángel M ÁM; Rodríguez-Antona, Cristina C; Montero-Conde, Cristina C; Martínez-López, Joaquín J; Ayala, Rosa R; Matias-Guiu, Xavier X; Robledo, Mercedes M; Cascón, Alberto A

Publication Date: 2020-11-09

Variant appearance in text: DNMT3A: Arg720Cys

PubMed Link: 33182397

Variant Present in the following documents:

• Main text
• cancers-12-03304.pdf

View BVdb publication page

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Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research

Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV

Publication Date: 2021-01

Variant appearance in text: DNMT3A: R720C

PubMed Link: 32767816

Variant Present in the following documents:

• PCMR-34-122-s006.xlsx, sheet 1

View BVdb publication page

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Clinico-Biological Features and Clonal Hematopoiesis in Patients with Severe COVID-19.

Cancers

Duployez, Nicolas N; Demonchy, Jordane J; Berthon, Céline C; Goutay, Julien J; Caplan, Morgan M; Moreau, Anne-Sophie AS; Bignon, Anne A; Marceau-Renaut, Alice A; Garrigue, Delphine D; Raczkiewicz, Imelda I; Geffroy, Sandrine S; Bucci, Maxime M; Alidjinou, Kazali K; Demaret, Julie J; Labalette, Myriam M; Brousseau, Thierry T; Dupont, Annabelle A; Rauch, Antoine A; Poissy, Julien J; Susen, Sophie S; Preudhomme, Claude C; Quesnel, Bruno B

Publication Date: 2020-07-21

Variant appearance in text: DNMT3A: 2158C>T; R720C

PubMed Link: 32708264

Variant Present in the following documents:

• cancers-12-01992-s001.pdf

View BVdb publication page

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

Cell Reports

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

Publication Date: 2020-06-23

Variant appearance in text: DNMT3A: R720C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: DNMT3A: 2158C>T; R720C

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: DNMT3A: 2158C>T; R720C

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: DNMT3A: R720C

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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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: Arg720Cys

PubMed Link: 24614070

Variant Present in the following documents:

• NIHMS57002-supplement-1.pdf

View BVdb publication page

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