KIT c.2446G>C ;(p.D816H)

Variant ID: 4-55599320-G-C

NM_000222.2(KIT):c.2446G>C;(p.D816H)

This variant was identified in 265 publications

View GRCh38 version.




Publications:


Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: KIT: D816H
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research
Lee, Hyun Jung HJ
Publication Date: 2023-04-30

Variant appearance in text: KIT: D816H
PubMed Link: 37105564
Variant Present in the following documents:
  • br-58-s1-s96.pdf
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: KIT: D816H
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



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: KIT: D816H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
  • 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Mast Cell Leukemia: An Update with a Practical Review.

Cancers
Zanelli, Magda M; Quintini, Martina M; Magnasco, Salvatore S; Aprile, Lara L; Palicelli, Andrea A; Zizzo, Maurizio M; Sanguedolce, Francesca F; Ricci, Stefano S; Pancetti, Saverio S; Zuccalà, Valeria V; Martino, Veronica V; Broggi, Giuseppe G; Caltabiano, Rosario R; Cavazza, Alberto A; Parente, Paola P; Mecucci, Cristina C; Martino, Giovanni G; Ascani, Stefano S
Publication Date: 2023-03-08

Variant appearance in text: KIT: D816H
PubMed Link: 36980550
Variant Present in the following documents:
  • Main text
  • cancers-15-01664.pdf
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: KIT: D816H
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: KIT: D816H
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: KIT: D816H
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
View BVdb publication page



MetalProGNet: a structure-based deep graph model for metalloprotein-ligand interaction predictions.

Chemical Science
Jiang, Dejun D; Ye, Zhaofeng Z; Hsieh, Chang-Yu CY; Yang, Ziyi Z; Zhang, Xujun X; Kang, Yu Y; Du, Hongyan H; Wu, Zhenxing Z; Wang, Jike J; Zeng, Yundian Y; Zhang, Haotian H; Wang, Xiaorui X; Wang, Mingyang M; Yao, Xiaojun X; Zhang, Shengyu S; Wu, Jian J; Hou, Tingjun T
Publication Date: 2023-02-22

Variant appearance in text: KIT: D816H
PubMed Link: 36845922
Variant Present in the following documents:
  • SC-014-D2SC06576B-s003.xlsx, sheet 1
View BVdb publication page



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: KIT: 2446G>C
PubMed Link: 36843401
Variant Present in the following documents:
  • alm-43-4-328-supple6.pdf
View BVdb publication page



Analysis of clinical and genomic profiles of therapy-related myeloid neoplasm in Korea.

Human Genomics
Yun, Jiwon J; Song, Hyojin H; Kim, Sung-Min SM; Kim, Soonok S; Kwon, Seok Ryun SR; Lee, Young Eun YE; Jeong, Dajeong D; Park, Jae Hyeon JH; Kwon, Sunghoon S; Yun, Hongseok H; Lee, Dong Soon DS
Publication Date: 2023-02-23

Variant appearance in text: KIT: 2446G>C; Asp816His
PubMed Link: 36814285
Variant Present in the following documents:
  • 40246_2023_458_MOESM5_ESM.pdf
  • 40246_2023_458_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Activity of Anlotinib in the Second-Line Therapy of Metastatic Gastrointestinal Stromal Tumors: A Prospective, Multicenter, In Vitro Study.

The Oncologist
Zhou, Yongjian Y; Zeng, Chunling C; Sun, Xiaofeng X; Zhang, Jun J; Qu, Hongyan H; Zhang, Xinhua X; Zhou, Ye Y; Liu, Zimin Z; Wu, Xiaojun X; Wu, Xin X; Jiao, Xuelong X; Shen, Lin L; Zhou, Yanbing Y; Wang, Yuexiang Y; Li, Jian J
Publication Date: 2023-02-13

Variant appearance in text: KIT: D816H
PubMed Link: 36779523
Variant Present in the following documents:
  • Main text
  • oyac271.pdf
View BVdb publication page



DeteX: A highly accurate software for detecting SNV and InDel in single and paired NGS data in cancer research.

Frontiers In Genetics
Cui, Yunlong Y; Li, Hongfeng H; Liu, Pengfei P; Wang, Hailong H; Zhang, Zhenzhen Z; Qu, Hongzhu H; Tian, Caijuan C; Fang, Xiangdong X
Publication Date: 2022

Variant appearance in text: KIT: 2446G>C; Asp816His
PubMed Link: 36685970
Variant Present in the following documents:
  • Table5.xlsx, sheet 1
View BVdb publication page



Identification of Thiazolo[5,4-b]pyridine Derivatives as c-KIT Inhibitors for Overcoming Imatinib Resistance.

Cancers
Nam, Yunju Y; Kim, Chan C; Han, Junghee J; Ryu, SeongShick S; Cho, Hanna H; Song, Chiman C; Kim, Nam Doo ND; Kim, Namkyoung N; Sim, Taebo T
Publication Date: 2022-12-26

Variant appearance in text: KIT: D816H
PubMed Link: 36612139
Variant Present in the following documents:
  • Main text
  • cancers-15-00143.pdf
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: KIT: 2446G>C; Asp816His
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: KIT: 2446G>C; D816H
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



VIP152 is a selective CDK9 inhibitor with pre-clinical in vitro and in vivo efficacy in chronic lymphocytic leukemia.

Leukemia
Sher, Steven S; Whipp, Ethan E; Walker, Janek J; Zhang, Pu P; Beaver, Larry L; Williams, Katie K; Orwick, Shelley S; Ravikrishnan, Janani J; Walker, Brandi B; Perry, Elizabeth E; Gregory, Charles C; Purcell, Matthew M; Pan, Alexander A; Yan, Pearlly P; Alinari, Lapo L; Johnson, Amy J AJ; Frigault, Melanie M MM; Greer, Joy M JM; Hamdy, Ahmed A; Izumi, Raquel R; Mo, Xiaokui X; Sampath, Deepa D; Woyach, Jennifer J; Blachly, James J; Byrd, John C JC; Lapalombella, Rosa R
Publication Date: 2022-11-14

Variant appearance in text: KIT: D816H
PubMed Link: 36376377
Variant Present in the following documents:
  • 41375_2022_1758_MOESM2_ESM.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: KIT: 2446G>C; D816H
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Protein tyrosine kinase inhibitor resistance in malignant tumors: molecular mechanisms and future perspective.

Signal Transduction And Targeted Therapy
Yang, Yang Y; Li, Shuo S; Wang, Yujiao Y; Zhao, Yi Y; Li, Qiu Q
Publication Date: 2022-09-17

Variant appearance in text: KIT: D816H
PubMed Link: 36115852
Variant Present in the following documents:
  • Main text
  • 41392_2022_Article_1168.pdf
View BVdb publication page



Mast Cell Leukemia: Clinical and Molecular Features and Survival Outcomes of Patients in the ECNM Registry.

Blood Advances
Kennedy, Vanessa E VE; Perkins, Cecelia C; Reiter, Andreas A; Jawhar, Mohamad M; Lübke, Johannes J; Kluin-Nelemans, Hanneke C HC; Shomali, William W; Langford, Cheryl C; Abuel, Justin J; Hermine, Olivier O; Niedoszytko, Marek M; Gorska, Aleksandra A; Mital, Andrzej A; Bonadonna, Patrizia P; Zanotti, Roberta R; Tanasi, Ilaria I; Mattsson, Mattias M; Hagglund, Hans G HG; Triggiani, Massimo M; Yavuz, Akif Selim AS; Panse, Jens Peter JP; Christen, Deborah D; Heizmann, Marc M; Shoumariyeh, Khalid K; Müller, Sabine S; Elena, Chiara C; Malcovati, Luca L; Fiorelli, Nicolas N; Wortmann, Friederike F; Vucinic, Vladan V; Brockow, Knut K; Fokoloros, Christos C; Papageorgiou, Sotirios G SG; Breynaert, Christine C; Bullens, Dominique D; Doubek, Michael M; Ilerhaus, Anja A; Angelova-Fischer, Irena I; Solomianyi, Oleksii O; Varkonyi, Judit J; Sabato, Vito V; Rüfer, Axel A; Schug, Tanja T; Hermans, Maud A W MAW; Belloni Fortina, Anna A; Caroppo, Francesca F; Bumbea, Horia H; Gulen, Theo T; Hartmann, Karin K; Oude Elberink, Hanneke H; Schwaab, Juliana J; Arock, Michel M; Valent, Peter P; Sperr, Wolfgang W; Gotlib, Jason J
Publication Date: 2022-09-12

Variant appearance in text: KIT: D816H
PubMed Link: 36094848
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Designing Novel BCR-ABL Inhibitors for Chronic Myeloid Leukemia with Improved Cardiac Safety.

Journal Of Medicinal Chemistry
Pandrala, Mallesh M; Bruyneel, Arne Antoon N AAN; Hnatiuk, Anna P AP; Mercola, Mark M; Malhotra, Sanjay V SV
Publication Date: 2022-08-25

Variant appearance in text: KIT: D816H
PubMed Link: 35944901
Variant Present in the following documents:
  • jm1c01853_si_003.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: KIT: D816H
PubMed Link: 35839449
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: KIT: D816H
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 2
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



AACR Project GENIE: 100,000 Cases and Beyond.

Cancer Discovery
Pugh, Trevor J TJ; Bell, Jonathan L JL; Bruce, Jeff P JP; Doherty, Gary J GJ; Galvin, Matthew M; Green, Michelle F MF; Hunter-Zinck, Haley H; Kumari, Priti P; Lenoue-Newton, Michele L ML; Li, Marilyn M MM; Lindsay, James J; Mazor, Tali T; Ovalle, Andrea A; Sammut, Stephen-John SJ; Schultz, Nikolaus N; Yu, Thomas V TV; Sweeney, Shawn M SM; Bernard, Brady B; ,
Publication Date: 2022-09-02

Variant appearance in text: KIT: D816H
PubMed Link: 35819403
Variant Present in the following documents:
  • cd-21-1547_supplementary_table_1_suppst1.xlsx, sheet 1
View BVdb publication page



Reengineering Ponatinib to Minimize Cardiovascular Toxicity.

Cancer Research
Hnatiuk, Anna P AP; Bruyneel, Arne A N AAN; Tailor, Dhanir D; Pandrala, Mallesh M; Dheeraj, Arpit A; Li, Wenqi W; Serrano, Ricardo R; Feyen, Dries A M DAM; Vu, Michelle M MM; Amatya, Prashila P; Gupta, Saloni S; Nakauchi, Yusuke Y; Morgado, Isabel I; Wiebking, Volker V; Liao, Ronglih R; Porteus, Matthew H MH; Majeti, Ravindra R; Malhotra, Sanjay V SV; Mercola, Mark M
Publication Date: 2022-08-03

Variant appearance in text: KIT: D816H
PubMed Link: 35763671
Variant Present in the following documents:
  • can-21-3652_supplementary_table_s1_suppst1.xls, sheet 2
View BVdb publication page



Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma.

Esmo Open
Janku, F F; Bauer, S S; Shoumariyeh, K K; Jones, R L RL; Spreafico, A A; Jennings, J J; Psoinos, C C; Meade, J J; Ruiz-Soto, R R; Chi, P P
Publication Date: 2022-08

Variant appearance in text: KIT: D816H
PubMed Link: 35753087
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Improved Binding Affinity and Pharmacokinetics Enable Sustained Degradation of BCL6 In Vivo.

Journal Of Medicinal Chemistry
Huckvale, Rosemary R; Harnden, Alice C AC; Cheung, Kwai-Ming J KJ; Pierrat, Olivier A OA; Talbot, Rachel R; Box, Gary M GM; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Hallsworth, Albert E AE; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; Hayes, Angela A; Gunnell, Emma A EA; Brennan, Alfie A; Davis, Owen A OA; Johnson, Louise D LD; de Klerk, Selby S; McAndrew, Craig C; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2022-06-23

Variant appearance in text: KIT: D816H
PubMed Link: 35653645
Variant Present in the following documents:
  • jm1c02175_si_002.xlsx, sheet 2
View BVdb publication page



Mutated KIT Tyrosine Kinase as a Novel Molecular Target in Acute Myeloid Leukemia.

International Journal Of Molecular Sciences
Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A
Publication Date: 2022-04-23

Variant appearance in text: CD117: D816H
PubMed Link: 35563085
Variant Present in the following documents:
  • ijms-23-04694.pdf
View BVdb publication page



Selective inhibition reveals the regulatory function of DYRK2 in protein synthesis and calcium entry.

Elife
Wei, Tiantian T; Wang, Jue J; Liang, Ruqi R; Chen, Wendong W; Chen, Yilan Y; Ma, Mingzhe M; He, An A; Du, Yifei Y; Zhou, Wenjing W; Zhang, Zhiying Z; Zeng, Xin X; Wang, Chu C; Lu, Jin J; Guo, Xing X; Chen, Xiao-Wei XW; Wang, Youjun Y; Tian, Ruijun R; Xiao, Junyu J; Lei, Xiaoguang X
Publication Date: 2022-04-19

Variant appearance in text: KIT: D816H
PubMed Link: 35439114
Variant Present in the following documents:
  • elife-77696.pdf
View BVdb publication page



Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications
Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S
Publication Date: 2022-03-28

Variant appearance in text: KIT: D816H
PubMed Link: 35347147
Variant Present in the following documents:
  • 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Mastocytosis presenting with mast cell-mediator release-associated symptoms elicited by cyclo oxygenase inhibitors: prevalence, clinical, and laboratory features.

Clinical And Translational Allergy
Rama, Tiago Azenha TA; Morgado, José Mário JM; Henriques, Ana A; Escribano, Luis L; Alvarez-Twose, Iván I; Sanchez-Muñoz, Laura L; Moreira, André A; Romão, José J; Órfão, Alberto A; Matito, Almudena A
Publication Date: 2022-03

Variant appearance in text: KIT: D816H
PubMed Link: 35344302
Variant Present in the following documents:
  • Main text
  • CLT2-12-e12132.pdf
View BVdb publication page



The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: KIT: Asp816His
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Nintedanib overcomes drug resistance from upregulation of FGFR signalling and imatinib-induced KIT mutations in gastrointestinal stromal tumours.

Molecular Oncology
Liu, Juan J; Gao, Jingjing J; Wang, Aoli A; Jiang, Zongru Z; Qi, Shuang S; Qi, Ziping Z; Liu, Feiyang F; Yu, Kailin K; Cao, Jiangyan J; Chen, Cheng C; Hu, Chen C; Wu, Hong H; Wang, Li L; Wang, Wenchao W; Liu, Qingsong Q; Liu, Jing J
Publication Date: 2022-04

Variant appearance in text: KIT: D816H
PubMed Link: 35194937
Variant Present in the following documents:
  • Main text
  • MOL2-16-1761.pdf
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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery
Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2022-05-05

Variant appearance in text: KIT: D816H
PubMed Link: 35176137
Variant Present in the following documents:
  • bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 12
  • bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18
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Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
George, Suzanne S; von Mehren, Margaret M; Fletcher, Jonathan A JA; Sun, Jichao J; Zhang, Sen S; Pritchard, Justin R JR; Hodgson, John Graeme JG; Kerstein, David D; Rivera, Victor M VM; Haluska, Frank G FG; Heinrich, Michael C MC
Publication Date: 2022-04-01

Variant appearance in text: KIT: D816H
PubMed Link: 35091442
Variant Present in the following documents:
  • ccr-21-2037_supplementary_data_supp0.pdf
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A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.

Cancers
Zanotti, Roberta R; Bonifacio, Massimiliano M; Isolan, Cecilia C; Tanasi, Ilaria I; Crosera, Lara L; Olivieri, Francesco F; Orsolini, Giovanni G; Schena, Donatella D; Bonadonna, Patrizia P
Publication Date: 2021-12-20

Variant appearance in text: KIT: D816H
PubMed Link: 34944999
Variant Present in the following documents:
  • Main text
  • cancers-13-06380.pdf
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A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.

Cancers
Zanotti, Roberta R; Bonifacio, Massimiliano M; Isolan, Cecilia C; Tanasi, Ilaria I; Crosera, Lara L; Olivieri, Francesco F; Orsolini, Giovanni G; Schena, Donatella D; Bonadonna, Patrizia P
Publication Date: 2021-12-20

Variant appearance in text: KIT: D816H
PubMed Link: 34944999
Variant Present in the following documents:
  • Main text
  • cancers-13-06380.pdf
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Nicotinamide promotes cardiomyocyte derivation and survival through kinase inhibition in human pluripotent stem cells.

Cell Death & Disease
Meng, Ya Y; Song, Chengcheng C; Ren, Zhili Z; Li, Xiaohong X; Yang, Xiangyu X; Ai, Nana N; Yang, Yang Y; Wang, Dongjin D; Zhan, Meixiao M; Wang, Jiaxian J; Lei, Chon Lok CL; Liu, Weiwei W; Ge, Wei W; Lu, Ligong L; Chen, Guokai G
Publication Date: 2021-11-29

Variant appearance in text: KIT: D816H
PubMed Link: 34845199
Variant Present in the following documents:
  • 41419_2021_4395_MOESM9_ESM.xlsx, sheet 1
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Precision Medicine in Systemic Mastocytosis.

Medicina (Kaunas, Lithuania)
Nicolosi, Maura M; Patriarca, Andrea A; Andorno, Annalisa A; Mahmoud, Abdurraouf Mokhtar AM; Gennari, Alessandra A; Boldorini, Renzo R; Gaidano, Gianluca G; Crisà, Elena E
Publication Date: 2021-10-20

Variant appearance in text: KIT: D816H
PubMed Link: 34833353
Variant Present in the following documents:
  • Main text
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Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Frontiers In Cell And Developmental Biology
Feng, Yuyang Y; Yao, Surui S; Pu, Zhening Z; Cheng, Han H; Fei, Bojian B; Zou, Jian J; Huang, Zhaohui Z
Publication Date: 2021

Variant appearance in text: KIT: D816H
PubMed Link: 34805171
Variant Present in the following documents:
  • Main text
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Individualized Treatment Strategy for Cutaneous Melanoma: Where Are We Now and Where Are We Going?

Frontiers In Oncology
Zeng, Huihua H; Liu, Fen F; Zhou, Hairong H; Zeng, Changchun C
Publication Date: 2021

Variant appearance in text: KIT: D816H
PubMed Link: 34804979
Variant Present in the following documents:
  • Main text
  • fonc-11-775100.pdf
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Systemic Mastocytosis: Multidisciplinary Approach.

Mediterranean Journal Of Hematology And Infectious Diseases
Zanotti, Roberta R; Tanasi, Ilaria I; Crosera, Lara L; Bonifacio, Massimiliano M; Schena, Donatella D; Orsolini, Giovanni G; Mastropaolo, Francesca F; Tebaldi, Morena M; Olivieri, Elisa E; Bonadonna, Patrizia P
Publication Date: 2021

Variant appearance in text: KIT: D816H
PubMed Link: 34804442
Variant Present in the following documents:
  • Main text
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Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery
Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,
Publication Date: 2021-11

Variant appearance in text: KIT: D816H
PubMed Link: 34778799
Variant Present in the following documents:
  • bloodcandisc-2-586-s001.xlsx, sheet 11
  • bloodcandisc-2-586-s001.xlsx, sheet 16
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The Role of Avapritinib for the Treatment of Systemic Mastocytosis.

Cureus
Sumbly, Vikram V; Landry, Ian I; Iqbal, Saba S; Bhatti, Zamaraq Z; Alshamam, Mohsen S MS; Ashfaq, Salman S; Rizzo, Vincent V
Publication Date: 2021-09

Variant appearance in text: KIT: D816H
PubMed Link: 34729266
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000018385.pdf
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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: KIT: D816H
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: KIT: Asp816His
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
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Skeletal muscle metastasis from a gastrointestinal stromal tumor: A case report.

Medicine
Zhu, Guangsheng G; Sun, Wenjia W; Liu, Yujun Y; Wang, Huabin H; Ye, Shengwei S
Publication Date: 2021-08-27

Variant appearance in text: KIT: D816H
PubMed Link: 34449472
Variant Present in the following documents:
  • Main text
  • medi-100-e27011.pdf
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