Publications:

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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: 2447A>C; D816A

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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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: D816A

PubMed Link: 35819403

Variant Present in the following documents:

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

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Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.

Annals Of Laboratory Medicine

Hwang, Sang Mee SM; Kim, Beom Joon BJ; Lee, Jee-Soo JS; Seong, Moon-Woo MW; Seo, Soo Hyun SH; Paik, Jin Ho JH; Kim, Sang-A SA; Lee, Ji Yun JY; Lee, Jeong-Ok JO; Chang, Yoon Hwan YH; Bang, Soo Mee SM

Publication Date: 2022-11-01

Variant appearance in text: CD117: D816A

PubMed Link: 35765876

Variant Present in the following documents:

• alm-42-6-678.pdf

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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: D816A

PubMed Link: 35347147

Variant Present in the following documents:

• 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1

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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: D816A

PubMed Link: 35344302

Variant Present in the following documents:

• Main text
• CLT2-12-e12132.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: D816A

PubMed Link: 35091442

Variant Present in the following documents:

• ccr-21-2037_supplementary_data_supp0.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: D816A

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Journal Of Personalized Medicine

Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA

Publication Date: 2021-07-14

Variant appearance in text: KIT: 2447A>C; Asp816Ala

PubMed Link: 34357128

Variant Present in the following documents:

• Main text
• jpm-11-00661.pdf

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Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.

International Journal Of Molecular Sciences

Lange, Magdalena M; Hartmann, Karin K; Carter, Melody C MC; Siebenhaar, Frank F; Alvarez-Twose, Ivan I; Torrado, Inés I; Brockow, Knut K; Renke, Joanna J; Irga-Jaworska, Ninela N; Plata-Nazar, Katarzyna K; Ługowska-Umer, Hanna H; Czarny, Justyna J; Belloni Fortina, Anna A; Caroppo, Francesca F; Nowicki, Roman J RJ; Nedoszytko, Bogusław B; Niedoszytko, Marek M; Valent, Peter P

Publication Date: 2021-03-04

Variant appearance in text: KIT: D816A

PubMed Link: 33806685

Variant Present in the following documents:

• Main text
• ijms-22-02586.pdf

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Vascular endothelial growth factors and angiopoietins as new players in mastocytosis.

Clinical And Experimental Medicine

Marcella, Simone S; Petraroli, Angelica A; Braile, Mariantonia M; Parente, Roberta R; Ferrara, Anne Lise AL; Galdiero, Maria Rosaria MR; Modestino, Luca L; Cristinziano, Leonardo L; Rossi, Francesca Wanda FW; Varricchi, Gilda G; Triggiani, Massimo M; de Paulis, Amato A; Spadaro, Giuseppe G; Loffredo, Stefania S

Publication Date: 2021-08

Variant appearance in text: KIT: D816A

PubMed Link: 33687603

Variant Present in the following documents:

• Main text
• 10238_2021_Article_693.pdf

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Molecular Characterization of Ovarian Yolk Sac Tumor (OYST).

Cancers

Hodroj, Khalil K; Stevovic, Aleksandra A; Attignon, Valery V; Ferraioli, Domenico D; Meeus, Pierre P; Croce, Sabrina S; Chopin, Nicolas N; Rossi, Lea L; Floquet, Anne A; Rousset-Jablonski, Christine C; Tredan, Olivier O; Guyon, Frédéric F; Treilleux, Isabelle I; Rannou, Corinne C; Morfouace, Marie M; Ray-Coquard, Isabelle I

Publication Date: 2021-01-09

Variant appearance in text: KIT: D816A

PubMed Link: 33435376

Variant Present in the following documents:

• Main text
• cancers-13-00220.pdf

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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: KIT: 2447A>C; D816A

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1

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An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.

Bmc Cancer

Tsutsumi, Makiko M; Miura, Hiroki H; Inagaki, Hidehito H; Shinkai, Yasuko Y; Kato, Asuka A; Kato, Takema T; Hamada-Tsutsumi, Susumu S; Tanaka, Makito M; Kudo, Kazuko K; Yoshikawa, Tetsushi T; Kurahashi, Hiroki H

Publication Date: 2020-11-27

Variant appearance in text: KIT: D816A

PubMed Link: 33246418

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7653.pdf
• 12885_2020_7653_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: D816A

PubMed Link: 33133066

Variant Present in the following documents:

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

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C

Publication Date: 2020-05-04

Variant appearance in text: KIT: D816A

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

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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: D816A

PubMed Link: 32283832

Variant Present in the following documents:

• Main text
• cancers-12-00927.pdf
• cancers-12-00927-s001.pdf

View BVdb publication page

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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: D816A

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

View BVdb publication page

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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: D816A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology

Leguit, Roos R; Hebeda, Konnie K; Kremer, Marcus M; van der Walt, Jon J; Gianelli, Umberto U; Tzankov, Alexandar A; Orazi, Attilio A

Publication Date: 2020

Variant appearance in text: KIT: D816A

PubMed Link: 31802761

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene mutation profile and risk stratification in AML1‑ETO‑positive acute myeloid leukemia based on next‑generation sequencing.

Oncology Reports

Yu, Guopan G; Yin, Changxin C; Wu, Fuqun F; Jiang, Ling L; Zheng, Zhongxin Z; Xu, Dan D; Zhou, Jiaheng J; Jiang, Xuejie X; Liu, Qifa Q; Meng, Fanyi F

Publication Date: 2019-12

Variant appearance in text: KIT: 2447A>C; D816A

PubMed Link: 31638252

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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Heterogeneous prognosis among KIT mutation types in adult acute myeloid leukemia patients with t(8;21).

Blood Cancer Journal

Qin, Ya-Zhen YZ; Zhu, Hong-Hu HH; Jiang, Qian Q; Xu, Lan-Ping LP; Jiang, Hao H; Wang, Yu Y; Zhao, Xiao-Su XS; Liu, Yan-Rong YR; Zhang, Xiao-Hui XH; Liu, Kai-Yan KY; Huang, Xiao-Jun XJ

Publication Date: 2018-08-07

Variant appearance in text: KIT: D816A

PubMed Link: 30087318

Variant Present in the following documents:

• Main text
• 41408_2018_Article_116.pdf

View BVdb publication page

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The role of serum tryptase in the diagnosis and monitoring of pediatric mastocytosis: a single-center experience.

Postepy Dermatologii I Alergologii

Lange, Magdalena M; Zawadzka, Agata A; Schrörs, Stephanie S; Słomka, Justyna J; Ługowska-Umer, Hanna H; Nedoszytko, Bogusław B; Nowicki, Roman R

Publication Date: 2017-08

Variant appearance in text: KIT: D816A

PubMed Link: 28951704

Variant Present in the following documents:

• PDIA-34-30413.pdf

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KIT: 2447A>C; D816A

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: 2447A>C; D816A

PubMed Link: 28179366

Variant Present in the following documents:

• supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1

View BVdb publication page

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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: 2447A>C; D816A

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of bilateral testicular germ cell tumors suggests independent development lineages.

Neoplasia (New York, N.Y.)

Brabrand, Sigmund S; Johannessen, Bjarne B; Axcrona, Ulrika U; Kraggerud, Sigrid M SM; Berg, Kaja G KG; Bakken, Anne C AC; Bruun, Jarle J; Fosså, Sophie D SD; Lothe, Ragnhild A RA; Lehne, Gustav G; Skotheim, Rolf I RI

Publication Date: 2015-02

Variant appearance in text: KIT: D816A

PubMed Link: 25748235

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: D816A

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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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: D816A

PubMed Link: 21748247

Variant Present in the following documents:

• 10434_2011_1892_MOESM2_ESM.pdf

View BVdb publication page

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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: D816A

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Wagle, Nikhil N; Emery, Caroline C; Berger, Michael F MF; Davis, Matthew J MJ; Sawyer, Allison A; Pochanard, Panisa P; Kehoe, Sarah M SM; Johannessen, Cory M CM; Macconaill, Laura E LE; Hahn, William C WC; Meyerson, Matthew M; Garraway, Levi A LA

Publication Date: 2011-08-01

Variant appearance in text: KIT: D816A

PubMed Link: 21383288

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine.

Embo Molecular Medicine

Dias-Santagata, Dora D; Akhavanfard, Sara S; David, Serena S SS; Vernovsky, Kathy K; Kuhlmann, Georgiana G; Boisvert, Susan L SL; Stubbs, Hannah H; McDermott, Ultan U; Settleman, Jeffrey J; Kwak, Eunice L EL; Clark, Jeffrey W JW; Isakoff, Steven J SJ; Sequist, Lecia V LV; Engelman, Jeffrey A JA; Lynch, Thomas J TJ; Haber, Daniel A DA; Louis, David N DN; Ellisen, Leif W LW; Borger, Darrell R DR; Iafrate, A John AJ

Publication Date: 2010-05

Variant appearance in text: KIT: D816A

PubMed Link: 20432502

Variant Present in the following documents:

• emmm0002-0146-SD1.xls, sheet 2

View BVdb publication page

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Mechanisms of sunitinib resistance in gastrointestinal stromal tumors harboring KITAY502-3ins mutation: an in vitro mutagenesis screen for drug resistance.

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

Guo, Tianhua T; Hajdu, Mihai M; Agaram, Narasimhan P NP; Shinoda, Hiroko H; Veach, Darren D; Clarkson, Bayard D BD; Maki, Robert G RG; Singer, Samuel S; Dematteo, Ronald P RP; Besmer, Peter P; Antonescu, Cristina R CR

Publication Date: 2009-11-15

Variant appearance in text: KIT: D816A

PubMed Link: 19861442

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Heinrich, Michael C MC; Maki, Robert G RG; Corless, Christopher L CL; Antonescu, Cristina R CR; Harlow, Amy A; Griffith, Diana D; Town, Ajia A; McKinley, Arin A; Ou, Wen-Bin WB; Fletcher, Jonathan A JA; Fletcher, Christopher D M CD; Huang, Xin X; Cohen, Darrel P DP; Baum, Charles M CM; Demetri, George D GD

Publication Date: 2008-11-20

Variant appearance in text: KIT: D816A

PubMed Link: 18955458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia.

The Journal Of Molecular Diagnostics : Jmd

Corless, Christopher L CL; Harrell, Patina P; Lacouture, Mario M; Bainbridge, Troy T; Le, Claudia C; Gatter, Ken K; White, Clifton C; Granter, Scott S; Heinrich, Michael C MC

Publication Date: 2006-11

Variant appearance in text: KIT: D816A

PubMed Link: 17065430

Variant Present in the following documents:

• Main text

View BVdb publication page

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