Publications:

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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: D816E

PubMed Link: 35819403

Variant Present in the following documents:

• cd-21-1547_supplementary_table_1_suppst1.xlsx, sheet 1

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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: Asp816Glu

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

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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: D816E

PubMed Link: 35194937

Variant Present in the following documents:

• Main text
• MOL2-16-1761.pdf

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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: D816E

PubMed Link: 35091442

Variant Present in the following documents:

• ccr-21-2037_supplementary_data_supp0.pdf

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Tryptase Regulates the Epigenetic Modification of Core Histones in Mast Cell Leukemia Cells.

Frontiers In Immunology

Alanazi, Sultan S; Rabelo Melo, Fabio F; Pejler, Gunnar G

Publication Date: 2021

Variant appearance in text: KIT: D816E

PubMed Link: 34925389

Variant Present in the following documents:

• Main text
• fimmu-12-804408.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: D816E

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: KIT: 2448C>G; D816E

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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How Far Are We from the Rapid Prediction of Drug Resistance Arising Due to Kinase Mutations?

Acs Omega

Erguven, Mehmet M; Karakulak, Tülay T; Diril, M Kasim MK; Karaca, Ezgi E

Publication Date: 2021-01-19

Variant appearance in text: KIT: D816E

PubMed Link: 33490784

Variant Present in the following documents:

• Main text
• ao0c04672.pdf

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Tyrosine Kinase Receptors in Oncology.

International Journal Of Molecular Sciences

Esteban-Villarrubia, Jorge J; Soto-Castillo, Juan José JJ; Pozas, Javier J; San Román-Gil, María M; Orejana-Martín, Inmaculada I; Torres-Jiménez, Javier J; Carrato, Alfredo A; Alonso-Gordoa, Teresa T; Molina-Cerrillo, Javier J

Publication Date: 2020-11-12

Variant appearance in text: KIT: D816E

PubMed Link: 33198314

Variant Present in the following documents:

• Main text
• ijms-21-08529.pdf

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: KIT: D816E

PubMed Link: 33133066

Variant Present in the following documents:

• Table_6.xlsx, sheet 9
• Table_1.xlsx, sheet 4
• Table_1.xlsx, sheet 8
• Table_2.xlsx, sheet 7
• Table_2.xlsx, sheet 1
• Table_6.xlsx, sheet 4
• Table_2.xlsx, sheet 2

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: KIT: D816E

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

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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: KIT: D816E

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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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: KIT: 2448C>G; D816E

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers

Hamid, Abdulaziz B AB; Petreaca, Ruben C RC

Publication Date: 2020-04-09

Variant appearance in text: KIT: D816E

PubMed Link: 32283832

Variant Present in the following documents:

• cancers-12-00927-s001.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KIT: D816E

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 11
• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience

Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J

Publication Date: 2020

Variant appearance in text: KIT: D816E

PubMed Link: 32082541

Variant Present in the following documents:

• Main text
• 13578_2020_Article_377.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: KIT: D816E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Overcoming heterogenity in imatinib-resistant gastrointestinal stromal tumor.

Oncotarget

Serrano, César C; Fletcher, Jonathan A JA

Publication Date: 2019-10-29

Variant appearance in text: KIT: D816E

PubMed Link: 31695836

Variant Present in the following documents:

• Main text
• oncotarget-10-6286.pdf

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Altered chromosomal topology drives oncogenic programs in SDH-deficient GISTs.

Nature

Flavahan, William A WA; Drier, Yotam Y; Johnstone, Sarah E SE; Hemming, Matthew L ML; Tarjan, Daniel R DR; Hegazi, Esmat E; Shareef, Sarah J SJ; Javed, Nauman M NM; Raut, Chandrajit P CP; Eschle, Benjamin K BK; Gokhale, Prafulla C PC; Hornick, Jason L JL; Sicinska, Ewa T ET; Demetri, George D GD; Bernstein, Bradley E BE

Publication Date: 2019-11

Variant appearance in text: KIT: D816E

PubMed Link: 31666694

Variant Present in the following documents:

• NIHMS1539624-supplement-Supplementary_Table_1.xlsx, sheet 1

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Complementary activity of tyrosine kinase inhibitors against secondary kit mutations in imatinib-resistant gastrointestinal stromal tumours.

British Journal Of Cancer

Serrano, César C; Mariño-Enríquez, Adrián A; Tao, Derrick L DL; Ketzer, Julia J; Eilers, Grant G; Zhu, Meijun M; Yu, Channing C; Mannan, Aristotle M AM; Rubin, Brian P BP; Demetri, George D GD; Raut, Chandrajit P CP; Presnell, Ajia A; McKinley, Arin A; Heinrich, Michael C MC; Czaplinski, Jeffrey T JT; Sicinska, Ewa E; Bauer, Sebastian S; George, Suzanne S; Fletcher, Jonathan A JA

Publication Date: 2019-03

Variant appearance in text: KIT: D816E

PubMed Link: 30792533

Variant Present in the following documents:

• Main text
• 41416_2019_Article_389.pdf

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Establishment and characterization of patient-derived xenograft models of gastrointestinal stromal tumor resistant to standard tyrosine kinase inhibitors.

Oncotarget

Na, Young-Soon YS; Ryu, Min-Hee MH; Yoo, Changhoon C; Lee, Ju-Kyung JK; Park, Jung Min JM; Lee, Chae-Won CW; Lee, Sun Young SY; Shin, Young-Kyoung YK; Ku, Ja-Lok JL; Ahn, Sung-Min SM; Kang, Yoon-Koo YK

Publication Date: 2017-09-29

Variant appearance in text: KIT: D816E

PubMed Link: 29100343

Variant Present in the following documents:

• Main text
• oncotarget-08-76712.pdf

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A phase II trial of regorafenib in patients with metastatic and/or a unresectable gastrointestinal stromal tumor harboring secondary mutations of exon 17.

Oncotarget

Yeh, Chun-Nan CN; Chen, Ming-Huang MH; Chen, Yen-Yang YY; Yang, Ching-Yao CY; Yen, Chueh-Chuan CC; Tzen, Chin-Yuan CY; Chen, Li-Tzong LT; Chen, Jen-Shi JS

Publication Date: 2017-07-04

Variant appearance in text: KIT: D816E

PubMed Link: 28487491

Variant Present in the following documents:

• Main text
• oncotarget-08-44121.pdf

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Antitumor activity and pharmacologic characterization of the depsipeptide analog as a novel histone deacetylase/ phosphatidylinositol 3-kinase dual inhibitor.

Cancer Science

Saijo, Ken K; Imai, Hiroo H; Chikamatsu, Sonoko S; Narita, Koichi K; Katoh, Tadashi T; Ishioka, Chikashi C

Publication Date: 2017-07

Variant appearance in text: N/A

PubMed Link: 28406576

Variant Present in the following documents:

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Use of the GeneReader NGS System in a clinical pathology laboratory: a comparative study.

Journal Of Clinical Pathology

Koitzsch, Ulrike U; Heydt, Carina C; Attig, Hans H; Immerschitt, Isabelle I; Merkelbach-Bruse, Sabine S; Fammartino, Alessandro A; Büttner, Reinhard H RH; Kong, Yi Y; Odenthal, Margarete M

Publication Date: 2017-08

Variant appearance in text: KIT: D816E

PubMed Link: 28400467

Variant Present in the following documents:

• jclinpath-2017-204342supp001.pdf

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Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research

Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U

Publication Date: 2017-04

Variant appearance in text: KIT: 2448C>G; D816E

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine

Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK

Publication Date: 2016-12-14

Variant appearance in text: N/A

PubMed Link: 27974047

Variant Present in the following documents:

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: KIT: 2448C>G; D816E

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

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Ponatinib inhibits polyclonal drug-resistant KIT oncoproteins and shows therapeutic potential in heavily pretreated gastrointestinal stromal tumor (GIST) patients.

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

Garner, Andrew P AP; Gozgit, Joseph M JM; Anjum, Rana R; Vodala, Sadanand S; Schrock, Alexa A; Zhou, Tianjun T; Serrano, Cesar C; Eilers, Grant G; Zhu, Meijun M; Ketzer, Julia J; Wardwell, Scott S; Ning, Yaoyu Y; Song, Youngchul Y; Kohlmann, Anna A; Wang, Frank F; Clackson, Tim T; Heinrich, Michael C MC; Fletcher, Jonathan A JA; Bauer, Sebastian S; Rivera, Victor M VM

Publication Date: 2014-11-15

Variant appearance in text: KIT: D816E

PubMed Link: 25239608

Variant Present in the following documents:

• Main text

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Structure-functional prediction and analysis of cancer mutation effects in protein kinases.

Computational And Mathematical Methods In Medicine

Dixit, Anshuman A; Verkhivker, Gennady M GM

Publication Date: 2014

Variant appearance in text: KIT: D816E

PubMed Link: 24817905

Variant Present in the following documents:

• CMMM2014-653487.pdf

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Phase I study of panobinostat and imatinib in patients with treatment-refractory metastatic gastrointestinal stromal tumors.

British Journal Of Cancer

Bauer, S S; Hilger, R A RA; Mühlenberg, T T; Grabellus, F F; Nagarajah, J J; Hoiczyk, M M; Reichardt, A A; Ahrens, M M; Reichardt, P P; Grunewald, S S; Scheulen, M E ME; Pustowka, A A; Bock, E E; Schuler, M M; Pink, D D

Publication Date: 2014-03-04

Variant appearance in text: KIT: D816E

PubMed Link: 24434430

Variant Present in the following documents:

• Main text
• bjc2013826a.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KIT: D816E

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.

Plos One

Hersmus, Remko R; Stoop, Hans H; van de Geijn, Gert Jan GJ; Eini, Ronak R; Biermann, Katharina K; Oosterhuis, J Wolter JW; Dhooge, Catharina C; Schneider, Dominik T DT; Meijssen, Isabelle C IC; Dinjens, Winand N M WN; Dubbink, Hendrikus Jan HJ; Drop, Stenvert L S SL; Looijenga, Leendert H J LH

Publication Date: 2012

Variant appearance in text: KIT: D816E

PubMed Link: 22937135

Variant Present in the following documents:

• Main text
• pone.0043952.pdf

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Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology

Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF

Publication Date: 2012-02

Variant appearance in text: KIT: D816E

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: KIT: D816E

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Sequence and structure signatures of cancer mutation hotspots in protein kinases.

Plos One

Dixit, Anshuman A; Yi, Lin L; Gowthaman, Ragul R; Torkamani, Ali A; Schork, Nicholas J NJ; Verkhivker, Gennady M GM

Publication Date: 2009-10-16

Variant appearance in text: KIT: D816E

PubMed Link: 19834613

Variant Present in the following documents:

• Main text
• pone.0007485.pdf

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Cancer driver mutations in protein kinase genes.

Cancer Letters

Torkamani, Ali A; Verkhivker, Gennady G; Schork, Nicholas J NJ

Publication Date: 2009-08-28

Variant appearance in text: KIT: D816E

PubMed Link: 19081671

Variant Present in the following documents:

• Main text

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