Publications:

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Case Report: Should Regorafenib be prescribed as a continuous schedule in gastrointestinal stromal tumors? Three case reports on Regorafenib personalized schedule.

Frontiers In Oncology

Grimaudo, Maria Susanna MS; Laffi, Alice A; Gennaro, Nicolò N; Fazio, Roberta R; D'Orazio, Federico F; Samà, Laura L; Siracusano, Licia Vanessa LV; Sicoli, Federico F; Renne, Salvatore Lorenzo SL; Santoro, Armando A; Bertuzzi, Alexia Francesca AF

Publication Date: 2023

Variant appearance in text: KIT: D816G

PubMed Link: 37324004

Variant Present in the following documents:

• Main text
• fonc-13-1190123.pdf

View BVdb publication page

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Molecular-Targeted Therapy for Tumor-Agnostic Mutations in Acute Myeloid Leukemia.

Biomedicines

Arai, Hironori H; Minami, Yosuke Y; Chi, SungGi S; Utsu, Yoshikazu Y; Masuda, Shinichi S; Aotsuka, Nobuyuki N

Publication Date: 2022-11-22

Variant appearance in text: KIT: D816G

PubMed Link: 36551764

Variant Present in the following documents:

• Main text
• biomedicines-10-03008.pdf

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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>G; D816G

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.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: KIT: D816G

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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Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

Cancers

El Hussein, Siba S; Chifotides, Helen T HT; Khoury, Joseph D JD; Verstovsek, Srdan S; Thakral, Beenu B

Publication Date: 2022-07-17

Variant appearance in text: KIT: D816G

PubMed Link: 35884535

Variant Present in the following documents:

• Main text
• cancers-14-03474.pdf

View BVdb publication page

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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: D816G

PubMed Link: 35819403

Variant Present in the following documents:

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

View BVdb publication page

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: KIT: D816G

PubMed Link: 35626091

Variant Present in the following documents:

• cancers-14-02487.pdf

View BVdb publication page

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The impact of whole genome and transcriptome analysis (WGTA) on predictive biomarker discovery and diagnostic accuracy of advanced malignancies.

The Journal Of Pathology. Clinical Research

Tessier-Cloutier, Basile B; Grewal, Jasleen K JK; Jones, Martin R MR; Pleasance, Erin E; Shen, Yaoqing Y; Cai, Ellen E; Dunham, Chris C; Hoang, Lynn L; Horst, Basil B; Huntsman, David G DG; Ionescu, Diana D; Karnezis, Anthony N AN; Lee, Anna F AF; Lee, Cheng Han CH; Lee, Tae Hoon TH; Twa, David Dw DD; Mungall, Andrew J AJ; Mungall, Karen K; Naso, Julia R JR; Ng, Tony T; Schaeffer, David F DF; Sheffield, Brandon S BS; Skinnider, Brian B; Smith, Tyler T; Williamson, Laura L; Zhong, Ellia E; Regier, Dean A DA; Laskin, Janessa J; Marra, Marco A MA; Gilks, C Blake CB; Jones, Steven Jm SJ; Yip, Stephen S

Publication Date: 2022-07

Variant appearance in text: KIT: 2447A>G; D816G

PubMed Link: 35257510

Variant Present in the following documents:

• CJP2-8-395-s002.xlsx, sheet 1

View BVdb publication page

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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: D816G

PubMed Link: 34944999

Variant Present in the following documents:

• Main text
• cancers-13-06380.pdf

View BVdb publication page

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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: D816G

PubMed Link: 34944999

Variant Present in the following documents:

• Main text
• cancers-13-06380.pdf

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: KIT: 2447A>G; Asp816Gly

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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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: D816G

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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BRAF V600E Mediates Crizotinib Resistance and Responds to Dabrafenib and Trametinib in a ROS1-Rearranged Non-Small Cell Lung Cancer: A Case Report.

The Oncologist

Li, Juan J; Wang, Qifeng Q; Ge, Jun J; Tian, Yuke Y; Yao, Wenxiu W

Publication Date: 2021-12

Variant appearance in text: KIT: D816G

PubMed Link: 34516041

Variant Present in the following documents:

• Main text
• ONCO-26-e2115.pdf

View BVdb publication page

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BRAF V600E Mediates Crizotinib Resistance and Responds to Dabrafenib and Trametinib in a ROS1-Rearranged Non-Small Cell Lung Cancer: A Case Report.

The Oncologist

Li, Juan J; Wang, Qifeng Q; Ge, Jun J; Tian, Yuke Y; Yao, Wenxiu W

Publication Date: 2021-12

Variant appearance in text: KIT: D816G

PubMed Link: 34516041

Variant Present in the following documents:

• Main text
• ONCO-26-e2115.pdf

View BVdb publication page

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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: 2447A>G; D816G

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Overcoming TKI resistance in fusion-driven NSCLC: new generation inhibitors and rationale for combination strategies.

Translational Lung Cancer Research

Russo, Alessandro A; Cardona, Andrés F AF; Caglevic, Christian C; Manca, Paolo P; Ruiz-Patiño, Alejandro A; Arrieta, Oscar O; Rolfo, Christian C

Publication Date: 2020-12

Variant appearance in text: KIT: D816G

PubMed Link: 33489820

Variant Present in the following documents:

• Main text
• tlcr-09-06-2581.pdf

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: D816G

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

View BVdb publication page

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: KIT: D816G

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

View BVdb publication page

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Dramatic Response to Lorlatinib in a Patient With CD74-ROS1-Positive Lung Adenocarcinoma With Acquired F2004V Mutation.

Jco Precision Oncology

Dimou, Anastasios A; Ou, Sai-Hong I SI; Doebele, Robert C RC

Publication Date: 2019

Variant appearance in text: KIT: D816G

PubMed Link: 32914039

Variant Present in the following documents:

• Main text
• PO.19.00013.pdf

View BVdb publication page

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ROS1-dependent cancers - biology, diagnostics and therapeutics.

Nature Reviews. Clinical Oncology

Drilon, Alexander A; Jenkins, Chelsea C; Iyer, Sudarshan S; Schoenfeld, Adam A; Keddy, Clare C; Davare, Monika A MA

Publication Date: 2021-01

Variant appearance in text: KIT: D816G

PubMed Link: 32760015

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: D816G

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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Frontiers of ctDNA, targeted therapies, and immunotherapy in non-small-cell lung cancer.

Translational Lung Cancer Research

Zhu, Chennianci C; Zhuang, Weihao W; Chen, Limin L; Yang, Wenyu W; Ou, Wen-Bin WB

Publication Date: 2020-02

Variant appearance in text: KIT: D816G

PubMed Link: 32206559

Variant Present in the following documents:

• Main text

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: D816G

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: D816G

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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Lack of Response to Imatinib in Melanoma Carrying Rare KIT Mutation p.T632I.

Case Reports In Oncology

Orlova, Kristina V KV; Yanus, Grigory A GA; Aleksakhina, Svetlana N SN; Venina, Aigul R AR; Iyevleva, Aglaya G AG; Demidov, Lev V LV; Imyanitov, Evgeny N EN

Publication Date: 2019

Variant appearance in text: KIT: D816G

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

View BVdb publication page

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Genomic aberrations in cell cycle genes predict progression of KIT-mutant gastrointestinal stromal tumors (GISTs).

Clinical Sarcoma Research

Heinrich, Michael C MC; Patterson, Janice J; Beadling, Carol C; Wang, Yuexiang Y; Debiec-Rychter, Maria M; Dewaele, Barbara B; Corless, Christopher L CL; Duensing, Anette A; Raut, Chandrajit P CP; Rubin, Brian B; Ordog, Tamas T; van de Rijn, Matt M; Call, Jerry J; Mühlenberg, Thomas T; Fletcher, Jonathan A JA; Bauer, Sebastian S

Publication Date: 2019

Variant appearance in text: KIT: D816G

PubMed Link: 30867899

Variant Present in the following documents:

• Main text
• 13569_2019_112_MOESM5_ESM.xlsx, sheet 1
• 13569_2019_Article_112.pdf

View BVdb publication page

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Recent Studies on Ponatinib in Cancers Other Than Chronic Myeloid Leukemia.

Cancers

Musumeci, Francesca F; Greco, Chiara C; Grossi, Giancarlo G; Molinari, Alessio A; Schenone, Silvia S

Publication Date: 2018-11-09

Variant appearance in text: KIT: D816G

PubMed Link: 30423915

Variant Present in the following documents:

• Main text
• cancers-10-00430.pdf

View BVdb publication page

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Preclinical human models and emerging therapeutics for advanced systemic mastocytosis.

Haematologica

Arock, Michel M; Wedeh, Ghaith G; Hoermann, Gregor G; Bibi, Siham S; Akin, Cem C; Peter, Barbara B; Gleixner, Karoline V KV; Hartmann, Karin K; Butterfield, Joseph H JH; Metcalfe, Dean D DD; Valent, Peter P

Publication Date: 2018-11

Variant appearance in text: KIT: D816G

PubMed Link: 29976735

Variant Present in the following documents:

• 1031760.pdf

View BVdb publication page

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KIT: D816G

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

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Resistance Mechanisms to Targeted Therapies in ROS1+ and ALK+ Non-small Cell Lung Cancer.

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

McCoach, Caroline E CE; Le, Anh T AT; Gowan, Katherine K; Jones, Kenneth K; Schubert, Laura L; Doak, Andrea A; Estrada-Bernal, Adriana A; Davies, Kurtis D KD; Merrick, Daniel T DT; Bunn, Paul A PA; Purcell, W Tom WT; Dziadziuszko, Rafal R; Varella-Garcia, Marileila M; Aisner, Dara L DL; Camidge, D Ross DR; Doebele, Robert C RC

Publication Date: 2018-07-15

Variant appearance in text: KIT: D816G

PubMed Link: 29636358

Variant Present in the following documents:

• Main text

View BVdb publication page

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Emerging resistance pathways in lung cancer: what has ROS-1 taught us?

Translational Lung Cancer Research

Alrifai, Doraid D; Forster, Martin D MD; Janes, Sam M SM

Publication Date: 2018-02

Variant appearance in text: KIT: D816G

PubMed Link: 29531896

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patient harboring a novel PIK3CA point mutation after acquired resistance to crizotinib in an adenocarcinoma with ROS1 rearrangement: A case report and literature review.

Thoracic Cancer

Xu, Chun-Wei CW; Wang, Wen-Xian WX; Huang, Rong-Fang RF; He, Cheng C; Liao, Xing-Hui XH; Zhu, You-Cai YC; Du, Kai-Qi KQ; Zhuang, Wu W; Chen, Yan-Ping YP; Chen, Gang G; Fang, Mei-Yu MY

Publication Date: 2017-11

Variant appearance in text: KIT: D816G

PubMed Link: 28845578

Variant Present in the following documents:

• Main text
• TCA-8-714.pdf

View BVdb publication page

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Recent Advances in Targeting ROS1 in Lung Cancer.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Lin, Jessica J JJ; Shaw, Alice T AT

Publication Date: 2017-11

Variant appearance in text: KIT: D816G

PubMed Link: 28818606

Variant Present in the following documents:

• Main text

View BVdb publication page

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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>G; D816G

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>G; D816G

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>G; D816G

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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An Activating KIT Mutation Induces Crizotinib Resistance in ROS1-Positive Lung Cancer.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Dziadziuszko, Rafal R; Le, Anh T AT; Wrona, Anna A; Jassem, Jacek J; Camidge, D Ross DR; Varella-Garcia, Marileila M; Aisner, Dara L DL; Doebele, Robert C RC

Publication Date: 2016-08

Variant appearance in text: KIT: 2447A>G; D816G

PubMed Link: 27068398

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical Grade "SNaPshot" Genetic Mutation Profiling in Multiple Myeloma.

Ebiomedicine

O'Donnell, Elizabeth E; Mahindra, Anuj A; Yee, Andrew J AJ; Nardi, Valentina V; Birrer, Nicole N; Horick, Nora N; Borger, Darrell D; Finkelstein, Dianne D; Iafrate, John A JA; Raje, Noopur N

Publication Date: 2015-01

Variant appearance in text: KIT: 2447A>G; Asp816Gly

PubMed Link: 26137536

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Hematopoietic stem-cell transplantation for advanced systemic mastocytosis.

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

Ustun, Celalettin C; Reiter, Andreas A; Scott, Bart L BL; Nakamura, Ryotaro R; Damaj, Gandhi G; Kreil, Sebastian S; Shanley, Ryan R; Hogan, William J WJ; Perales, Miguel-Angel MA; Shore, Tsiporah T; Baurmann, Herrad H; Stuart, Robert R; Gruhn, Bernd B; Doubek, Michael M; Hsu, Jack W JW; Tholouli, Eleni E; Gromke, Tanja T; Godley, Lucy A LA; Pagano, Livio L; Gilman, Andrew A; Wagner, Eva Maria EM; Shwayder, Tor T; Bornhäuser, Martin M; Papadopoulos, Esperanza B EB; Böhm, Alexandra A; Vercellotti, Gregory G; Van Lint, Maria Teresa MT; Schmid, Christoph C; Rabitsch, Werner W; Pullarkat, Vinod V; Legrand, Faezeh F; Yakoub-Agha, Ibrahim I; Saber, Wael W; Barrett, John J; Hermine, Olivier O; Hagglund, Hans H; Sperr, Wolfgang R WR; Popat, Uday U; Alyea, Edwin P EP; Devine, Steven S; Deeg, H Joachim HJ; Weisdorf, Daniel D; Akin, Cem C; Valent, Peter P

Publication Date: 2014-10-10

Variant appearance in text: KIT: D816G

PubMed Link: 25154823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial occurrence of systemic mast cell activation disease.

Plos One

Molderings, Gerhard J GJ; Haenisch, Britta B; Bogdanow, Manuela M; Fimmers, Rolf R; Nöthen, Markus M MM

Publication Date: 2013

Variant appearance in text: KIT: D816G

PubMed Link: 24098785

Variant Present in the following documents:

• Main text
• pone.0076241.pdf

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: D816G

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: D816G

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: D816G

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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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: D816G

PubMed Link: 20432502

Variant Present in the following documents:

• emmm0002-0146-SD1.xls, sheet 2

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: D816G

PubMed Link: 17065430

Variant Present in the following documents:

• Main text

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