Variant ID: 4-55599321-A-T

NM_000222.2(KIT):c.2447A>T;(p.Asp816Val)

This variant was identified in 623 publications




Publications:


Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.

International Journal Of Molecular Sciences
B Nedoszytko, M Sobalska-Kwapis, D Strapagiel, M Lange, A Górska, JNGO Elberink, J van Doormaal, M Słomka, L Kalinowski, M Gruchała-Niedoszytko, RJ Nowicki, P Valent, M Niedoszytko
Publication Date: 2020-07-31

Variant appearance in text: KIT: D816V; rs121913507
PMID: 32752121
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Persistent Human KIT Receptor Signaling Disposes Murine Placenta to Premature Differentiation Resulting in Severely Disrupted Placental Structure and Functionality.

International Journal Of Molecular Sciences
F Kaiser, J Hartweg, S Jansky, N Pelusi, C Kubaczka, N Sharma, D Nitsche, J Langkabel, H Schorle
Publication Date: 2020-07-31

Variant appearance in text: KIT: D816V
PMID: 32752102
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Personalized Treatment Selection and Disease Monitoring Using Circulating Tumor DNA Profiling in Real-World Cancer Patient Management.

Diagnostics (Basel, Switzerland)
J Wehrle, U Philipp, M Jolic, M Follo, S Hussung, S Waldeck, M Deuter, M Rassner, J Braune, J Rawluk, C Greil, CF Waller, H Becker, J Duque-Afonso, AL Illert, RM Fritsch, F Meiss, J Duyster, N von Bubnoff, F Scherer
Publication Date: 2020-08-02

Variant appearance in text: KIT: D816V
PMID: 32748806
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SRC-Family Kinases in Acute Myeloid Leukaemia and Mastocytosis.

Cancers
E Voisset, F Brenet, S Lopez, P de Sepulveda
Publication Date: 2020-07-21

Variant appearance in text: KIT: D816V
PMID: 32708273
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The Roles of Common Variation and Somatic Mutation in Cancer Pharmacogenomics.

Oncology And Therapy
HT Chan, YM Chin, SK Low
Publication Date: 2019-06

Variant appearance in text: KIT: D816V
PMID: 32700193
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Mastocytosis: One Word for Different Diseases.

Oncology And Therapy
M Criscuolo, L Fianchi, AME Maraglino, L Pagano
Publication Date: 2018-12

Variant appearance in text: KIT: D816V
PMID: 32700030
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A prospective multicenter phase II study on the efficacy and safety of dasatinib in the treatment of metastatic gastrointestinal stromal tumors failed by imatinib and sunitinib and analysis of NGS in peripheral blood.

Cancer Medicine
Y Zhou, X Zhang, X Wu, Y Zhou, B Zhang, X Liu, X Wu, Y Li, L Shen, J Li
Publication Date: 2020-07-17

Variant appearance in text: KIT: D816V
PMID: 32677196
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Systemic Mastocytosis: A Rare Cause of Diarrhea.

Cureus
L Hamera, AM Santos, SA Prince, S Chandrupatla, J Jordan
Publication Date: 2020-07-10

Variant appearance in text: KIT: D816V
PMID: 32670731
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Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy.

International Journal Of Molecular Sciences
M Martelli, C Monaldi, S De Santis, S Bruno, M Mancini, M Cavo, S Soverini
Publication Date: 2020-06-02

Variant appearance in text: KIT: D816V
PMID: 32498255
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The increasing complexity of the management of core-binding factor acute myeloid leukemia.

Haematologica
MR Litzow
Publication Date: 2020-06

Variant appearance in text: KIT: D816V
PMID: 32482754
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Establishment of a FDC-P1 Murine Cell Line with Human KIT N822K Gene Overexpression.

Acta Naturae
ER Vagapova, TD Lebedev, VI Popenko, OG Leonova, PV Spirin, VS Prassolov
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32477598
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A Rare Case of Systemic Mastocytosis with Associated Hematologic Neoplasm (SM-AHN) Involving Chronic Myeloid Leukemia: A Case Report and Literature Review.

The American Journal Of Case Reports
FA Ibrahim, MAJ Abdulla, D Soliman, A Al Sabbagh, Z Nawaz, SJ Akiki, H Shwaylia, MA Yassin
Publication Date: 2020-05-13

Variant appearance in text: KIT: Asp816Val
PMID: 32398637
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European Medicines Agency review of midostaurin (Rydapt) for the treatment of adult patients with acute myeloid leukaemia and systemic mastocytosis.

Esmo Open
K Tzogani, Y Yu, D Meulendijks, C Herberts, P Hennik, R Verheijen, T Wangen, G Dahlseng Håkonsen, T Kaasboll, M Dalhus, B Bolstad, T Salmonson, C Gisselbrecht, F Pignatti
Publication Date: 2019-11

Variant appearance in text: KIT: D816V
PMID: 32392175
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Pharmacogenomics Biomarkers of Soft Tissue Sarcoma Therapies.

Frontiers In Oncology
C Caruso, C Garofalo
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32351891
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Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap.

Frontiers In Pharmacology
M Piris-Villaespesa, I Alvarez-Twose
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32346366
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Secondary Resistant Mutations to Small Molecule Inhibitors in Cancer Cells.

Cancers
AB Hamid, RC Petreaca
Publication Date: 2020-04-09

Variant appearance in text: KIT: D816V
PMID: 32283832
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The Use of Molecular Subtypes for Precision Therapy of Recurrent and Metastatic Gastrointestinal Stromal Tumor.

Oncotargets And Therapy
P Liu, F Tan, H Liu, B Li, T Lei, X Zhao
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32273716
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Allogeneic Hematopoietic Stem Cell Transplantation in a Rare Case of Tonsillar Mast Cell Sarcoma.

Frontiers In Oncology
AS Kubasch, GN Franke, A Aldaoud, K Weibl, M Jentzsch, O Sabri, HP Horny, F Fend, G Behre, U Platzbecker, V Vucinic
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32181155
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Educational Case: Systemic Mastocytosis with an Associated Hematological Neoplasm.

Academic Pathology
B Mai, MA Wahed, L Chen, ND Nguyen, XI Wang, Z Hu
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32158933
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Development of a model care pathway for the management of Hymenoptera venom allergy: evidence-based key interventions and indicators.

Clinical And Translational Allergy
MB Bilò, A Corsi, V Pravettoni, D Bignardi, P Bonadonna, O Quercia, M Mauro, E Novembre, R Micheletti, R Papa
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32158533
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The Role of Mast Cells in Bone Metabolism and Bone Disorders.

Frontiers In Immunology
D Ragipoglu, A Dudeck, M Haffner-Luntzer, M Voss, J Kroner, A Ignatius, V Fischer
Publication Date: 2020

Variant appearance in text: CD117: D816V
PMID: 32117297
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Comprehensive review into the challenges of gastrointestinal tumors in the Gulf and Levant countries.

World Journal Of Clinical Cases
Rare Tumors Gi Group, F Farhat, AA Farsi, A Mohieldin, BA Bahrani, E Sbaity, H Jaffar, J Kattan, K Rasul, K Saad, T Assi, WE Morsi, RA Abood
Publication Date: 2020-02-06

Variant appearance in text: KIT: D816V
PMID: 32110658
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Imatinib-Induced Tremor in a Patient with Chronic Myeloid Leukemia in Chronic Phase.

Case Reports In Oncology
K Obeidat, A Alsaud, A Ashour, B Azrieh, M Abu-Tineh, SF Mohamed, MA Yassin
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 32110208
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Presumed mast cell choroidal infiltrate in aggressive systemic mastocytosis.

American Journal Of Ophthalmology Case Reports
TM Tran, M Najafi, T Ambros, JS Pulido, C Ustun, D Koozekanani
Publication Date: 2020-06

Variant appearance in text: KIT: D816V
PMID: 32083227
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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience
G Zhu, J Shi, S Zhang, Y Guo, L Huang, H Zhao, Y Jiang, J Sun
Publication Date: 2020

Variant appearance in text: KIT: D816V
PMID: 32082541
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Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.

Bmc Cancer
C Serrano, A Vivancos, A López-Pousa, J Matito, FM Mancuso, C Valverde, S Quiroga, S Landolfi, S Castro, C Dopazo, A Sebio, AC Virgili, MM Menso, J Martín-Broto, M Sansó, A García-Valverde, J Rosell, JA Fletcher, S George, J Carles, J Arribas
Publication Date: 2020-02-05

Variant appearance in text: KIT: D816V
PMID: 32024476
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Killer Immunoglobulin-Like Receptor 2DL4 (CD158d) Regulates Human Mast Cells both Positively and Negatively: Possible Roles in Pregnancy and Cancer Metastasis.

International Journal Of Molecular Sciences
TR Kataoka, C Ueshima, M Hirata, S Minamiguchi, H Haga
Publication Date: 2020-01-31

Variant appearance in text: KIT: D816V
PMID: 32023940
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The clinical heterogeneity of RUNX1 associated familial platelet disorder with predisposition to myeloid malignancy - A case series and review of the literature.

Research And Practice In Thrombosis And Haemostasis
C Tang, DJ Rabbolini, MC Morel-Kopp, DE Connor, P Crispin, CM Ward, WS Stevenson
Publication Date: 2020-01

Variant appearance in text: KIT: D816V
PMID: 31989091
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Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design.

Plos One
A Aguilera-Diaz, I Vazquez, B Ariceta, A Mañú, Z Blasco-Iturri, S Palomino-Echeverría, MJ Larrayoz, R García-Sanz, MI Prieto-Conde, M Del Carmen Chillón, A Alfonso-Pierola, F Prosper, M Fernandez-Mercado, MJ Calasanz
Publication Date: 2020

Variant appearance in text: KIT: 2447A>T; Asp816Val
PMID: 31978184
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Pharmacological Inhibition of Oncogenic STAT3 and STAT5 Signaling in Hematopoietic Cancers.

Cancers
M Brachet-Botineau, M Polomski, HA Neubauer, L Juen, D Hédou, MC Viaud-Massuard, G Prié, F Gouilleux
Publication Date: 2020-01-18

Variant appearance in text: KIT: D816V
PMID: 31963765
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KIT D816V and the cytokine storm in mastocytosis: production and role of interleukin-6.

Haematologica
P Valent
Publication Date: 2020-01

Variant appearance in text: KIT: D816V
PMID: 31894094
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Melanoma and Mastocytosis.

Open Access Macedonian Journal Of Medical Sciences
A Vojvodic, T Vlaskovic-Jovicevic, P Vojvodic, J Vojvodic, M Goldust, Z Peric-Hajzler, D Matovic, G Sijan, N Stepic, U Wollina, M Fioranelli, M Tirant, VT Nguyen, T Lotti
Publication Date: 2019-09-30

Variant appearance in text: KIT: D816V
PMID: 31850121
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Recent advances in the understanding and therapeutic management of mastocytosis.

F1000Research
J Rossignol, L Polivka, L Maouche-Chrétien, L Frenzel, P Dubreuil, O Hermine
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31824655
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Prognosis and outcome of patients with acute myeloid leukemia based on FLT3-ITD mutation with or without additional abnormal cytogenetics.

Oncology Letters
S Tao, C Wang, Y Chen, Y Deng, L Song, Y Shi, L Ling, B Ding, Z He, L Yu
Publication Date: 2019-12

Variant appearance in text: KIT: D816V
PMID: 31807186
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The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review.

Pathobiology : Journal Of Immunopathology, Molecular And Cellular Biology
R Leguit, K Hebeda, M Kremer, J van der Walt, U Gianelli, A Tzankov, A Orazi
Publication Date: 2019-12-04

Variant appearance in text: KIT: D816V
PMID: 31802761
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Highly Aggressive CD4-Positive Mast Cell Leukaemia (Leukaemic Variant) Associated with Isolated Trisomy 19 and Hemophagocytosis by Neoplastic Mast Cells: A Case Report with Challenging Experience and Review.

Case Reports In Hematology
DS Soliman, A Al-Sabbagh, F Ibrahim, A Gameil, M Yassin, H El-Omri
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31772790
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Diagnosis and Treatment of Chronic Myelomonocytic Leukemias in Adults: Recommendations From the European Hematology Association and the European LeukemiaNet.

Hemasphere
R Itzykson, P Fenaux, D Bowen, NCP Cross, J Cortes, T De Witte, U Germing, F Onida, E Padron, U Platzbecker, V Santini, GF Sanz, E Solary, A Van de Loosdrecht, L Malcovati
Publication Date: 2018-12

Variant appearance in text: KIT: D816V
PMID: 31723789
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Description and Characterization of a Novel Human Mast Cell Line for Scientific Study.

International Journal Of Molecular Sciences
A S Kirshenbaum, Y Yin, JB Sundstrom, G Bandara, D D Metcalfe
Publication Date: 2019-11-06

Variant appearance in text: KIT: D816V
PMID: 31698677
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Overcoming heterogenity in imatinib-resistant gastrointestinal stromal tumor.

Oncotarget
C Serrano, JA Fletcher
Publication Date: 2019-10-29

Variant appearance in text: KIT: D816V
PMID: 31695836
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STAT5A and STAT5B-Twins with Different Personalities in Hematopoiesis and Leukemia.

Cancers
B Maurer, S Kollmann, J Pickem, A Hoelbl-Kovacic, V Sexl
Publication Date: 2019-11-04

Variant appearance in text: KIT: D816V
PMID: 31690038
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International prognostic scoring system for mastocytosis (IPSM): a retrospective cohort study.

The Lancet. Haematology
WR Sperr, M Kundi, I Alvarez-Twose, B van Anrooij, JNG Oude Elberink, A Gorska, M Niedoszytko, KV Gleixner, E Hadzijusufovic, R Zanotti, P Bonadonna, M Bonifacio, C Perkins, A Illerhaus, C Elena, S Merante, K Shoumariyeh, N von Bubnoff, R Parente, M Jawhar, A Belloni Fortina, F Caroppo, K Brockow, A Zink, D Fuchs, AJ Kilbertus, AS Yavuz, M Doubek, H Hägglund, J Panse, V Sabato, A Bretterklieber, D Niederwieser, C Breynaert, K Hartmann, M Triggiani, B Nedoszytko, A Reiter, A Orfao, O Hermine, J Gotlib, M Arock, HC Kluin-Nelemans, P Valent
Publication Date: 2019-12

Variant appearance in text: KIT: Asp816Val
PMID: 31676322
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Comparative aspects of mast cell neoplasia in animals and the role of KIT in prognosis and treatment.

Veterinary Medicine And Science
VS Tamlin, CDK Bottema, AE Peaston
Publication Date: 2019-10-24

Variant appearance in text: KIT: D816V
PMID: 31650704
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Mast Cell Leukemia with Ascites and Multiple Organs Damage.

Iranian Journal Of Pathology
E Jafari, A Hadipour, B Kalantari Khandani, F Abolhasani
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31583006
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Successful treatment of idiopathic mast cell activation syndrome with low-dose Omalizumab.

Clinical & Translational Immunology
R Berry, P Hollingsworth, M Lucas
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31576204
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Blast vacuolization in AML patients indicates adverse-risk AML and is associated with impaired survival after intensive induction chemotherapy.

Plos One
O Ballo, J Stratmann, H Serve, B Steffen, F Finkelmeier, C Brandts
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31568521
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Hymenoptera Venom Allergy: How Does Venom Immunotherapy Prevent Anaphylaxis From Bee and Wasp Stings?

Frontiers In Immunology
UM Sahiner, SR Durham
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31497015
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N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells.

Cell Communication And Signaling : Ccs
Y Obata, Y Hara, I Shiina, T Murata, Y Tasaki, K Suzuki, K Ito, S Tsugawa, K Yamawaki, T Takahashi, K Okamoto, T Nishida, R Abe
Publication Date: 2019-09-04

Variant appearance in text: KIT: D816V
PMID: 31484543
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Clinical potential of midostaurin in advanced systemic mastocytosis.

Blood And Lymphatic Cancer : Targets And Therapy
MO Chandesris, G Damaj, O Lortholary, O Hermine
Publication Date: 2017

Variant appearance in text: KIT: D816V
PMID: 31360083
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Altered Metabolism of Phospholipases, Diacylglycerols, Endocannabinoids, and N-Acylethanolamines in Patients with Mastocytosis.

Journal Of Immunology Research
AL Ferrara, F Piscitelli, A Petraroli, R Parente, MR Galdiero, G Varricchi, G Marone, M Triggiani, V Di Marzo, S Loffredo
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31355297
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A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis.

Blood Advances
J Gotlib, JH Baird, TI George, C Langford, I Reyes, J Abuel, C Perkins, K Schroeder, P Bose, S Verstovsek
Publication Date: 2019-08-13

Variant appearance in text: KIT: D816V
PMID: 31350306
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Targeting Tyrosine Kinases in Acute Myeloid Leukemia: Why, Who and How?

International Journal Of Molecular Sciences
S Fernandez, V Desplat, A Villacreces, AV Guitart, N Milpied, A Pigneux, I Vigon, JM Pasquet, PY Dumas
Publication Date: 2019-07-12

Variant appearance in text: KIT: D816V
PMID: 31336846
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Oncogenic KIT mutations induce STAT3-dependent autophagy to support cell proliferation in acute myeloid leukemia.

Oncogenesis
C Larrue, Q Heydt, E Saland, H Boutzen, T Kaoma, JE Sarry, C Joffre, C Récher
Publication Date: 2019-07-16

Variant appearance in text: KIT: D816V
PMID: 31311917
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Systemic mastocytosis: a rare cause of osteoporosis.

The Pan African Medical Journal
VV Garla, KUQ Chaudhary, A Yaqub
Publication Date: 2019

Variant appearance in text: KIT: Asp816Val
PMID: 31303938
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Mast Cells in Cardiovascular Disease: From Bench to Bedside.

International Journal Of Molecular Sciences
M Hermans, JRV Lennep, P van Daele, I Bot
Publication Date: 2019-07-10

Variant appearance in text: CD117: D816V
PMID: 31295950
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Acute myeloid leukemia immunopeptidome reveals HLA presentation of mutated nucleophosmin.

Plos One
R Narayan, N Olsson, LE Wagar, BC Medeiros, E Meyer, D Czerwinski, MS Khodadoust, L Zhang, L Schultz, MM Davis, JE Elias, R Levy
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31291378
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ATP-Competitive Inhibitors Midostaurin and Avapritinib Have Distinct Resistance Profiles in Exon 17-Mutant KIT.

Cancer Research
B Apsel Winger, WA Cortopassi, D Garrido Ruiz, L Ding, K Jang, A Leyte-Vidal, N Zhang, R Esteve-Puig, MP Jacobson, NP Shah
Publication Date: 2019-08-15

Variant appearance in text: KIT: D816V
PMID: 31270078
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The role of mast cells in pediatric gastrointestinal disease.

Annals Of Gastroenterology
N Ravanbakhsh, A Kesavan
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31263355
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Myelomastocytic Blast Cell Crisis in Resistant Tyrosine Kinase Inhibitor Chronic Myelogenous Leukemia: Case Report and Review of Literature.

Cureus
H Martinez-Cordero, B Patiño-Escobar, LJ Enciso, DM Otero, P Spirko
Publication Date: 2019-05-21

Variant appearance in text: KIT: D816V
PMID: 31223555
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Inhibition of N822K T>A mutation-induced constitutive c-KIT activation in AML cells triggers apoptotic and autophagic pathways leading to death.

International Journal Of Medical Sciences
J Xu, J Zheng, X Fu, W Wu, L Tao, D Li, D Lin
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31217744
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Axitinib overcomes multiple imatinib resistant cKIT mutations including the gatekeeper mutation T670I in gastrointestinal stromal tumors.

Therapeutic Advances In Medical Oncology
F Liu, F Zou, C Chen, K Yu, X Liu, S Qi, J Wu, C Hu, Z Hu, J Liu, X Liu, L Wang, J Ge, W Wang, T Ren, M Bai, Y Cai, X Xiao, F Qian, J Tang, Q Liu, J Liu
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31205508
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Functional Properties of KIT Mutations Are Associated with Differential Clinical Outcomes and Response to Targeted Therapeutics in CBF Acute Myeloid Leukemia.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
K Tarlock, TA Alonzo, YC Wang, RB Gerbing, R Ries, MR Loken, L Pardo, T Hylkema, J Joaquin, L Sarukkai, SC Raimondi, B Hirsch, L Sung, R Aplenc, I Bernstein, AS Gamis, S Meshinchi, JA Pollard
Publication Date: 2019-08-15

Variant appearance in text: KIT: D816V
PMID: 31182436
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Pharmacogenetic-Based Interactions between Nutraceuticals and Angiogenesis Inhibitors.

Cells
R Di Francia, M Berretta, G Benincasa, A D'Avino, S Facchini, D Costagliola, P Rossi
Publication Date: 2019-05-30

Variant appearance in text: KIT: D816V
PMID: 31151284
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Adjuvant therapy with imatinib in gastrointestinal stromal tumors (GISTs)-review and perspectives.

Translational Gastroenterology And Hepatology
M Laurent, M Brahmi, A Dufresne, P Meeus, M Karanian, I Ray-Coquard, JY Blay
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31143845
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Myo1f, an Unconventional Long-Tailed Myosin, Is a New Partner for the Adaptor 3BP2 Involved in Mast Cell Migration.

Frontiers In Immunology
A Navinés-Ferrer, E Ainsua-Enrich, E Serrano-Candelas, J Sayós, M Martin
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31143189
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MITF-the first 25 years.

Genes & Development
CR Goding, H Arnheiter
Publication Date: 2019-08-01

Variant appearance in text: KIT: D816V
PMID: 31123060
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PD-L1 Expression in Mastocytosis.

International Journal Of Molecular Sciences
M Williams, DS Lidke, K Hartmann, TI George
Publication Date: 2019-05-13

Variant appearance in text: KIT: D816V
PMID: 31086024
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Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements.

The Journal Of Molecular Diagnostics : Jmd
HJ He, EV Stein, Y Konigshofer, T Forbes, FL Tomson, R Garlick, E Yamada, T Godfrey, T Abe, K Tamura, M Borges, M Goggins, S Elmore, ML Gulley, JL Larson, L Ringel, BC Haynes, C Karlovich, PM Williams, A Garnett, A Ståhlberg, S Filges, L Sorbara, MR Young, S Srivastava, KD Cole
Publication Date: 2019-07

Variant appearance in text: KIT: 2447A>T; D816V
PMID: 31055023
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Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Nature Communications
S Cocciardi, A Dolnik, S Kapp-Schwoerer, FG Rücker, S Lux, TJ Blätte, S Skambraks, J Krönke, FH Heidel, TM Schnöder, A Corbacioglu, VI Gaidzik, P Paschka, V Teleanu, G Göhring, F Thol, M Heuser, A Ganser, D Weber, E Sträng, HA Kestler, H Döhner, L Bullinger, K Döhner
Publication Date: 2019-05-02

Variant appearance in text: KIT: D816V
PMID: 31048683
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Proposed diagnostic criteria for classical chronic myelomonocytic leukemia (CMML), CMML variants and pre-CMML conditions.

Haematologica
P Valent, A Orazi, MR Savona, MM Patnaik, F Onida, AA van de Loosdrecht, D Haase, T Haferlach, C Elena, L Pleyer, W Kern, T Pemovska, GI Vladimer, J Schanz, A Keller, M Lübbert, T Lion, K Sotlar, A Reiter, T De Witte, M Pfeilstöcker, K Geissler, E Padron, M Deininger, A Orfao, HP Horny, PL Greenberg, DA Arber, L Malcovati, JM Bennett
Publication Date: 2019-10

Variant appearance in text: KIT: D816V
PMID: 31048353
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Repurposing Ponatinib as a Potent Agent against KIT Mutant Melanomas.

Theranostics
Y Han, Z Gu, J Wu, X Huang, R Zhou, C Shi, W Tao, L Wang, Y Wang, G Zhou, J Li, Z Zhang, S Sun
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31037149
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Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.

American Journal Of Human Genetics
Y Karasozen, JW Osbun, CA Parada, T Busald, P Tatman, LF Gonzalez-Cuyar, CJ Hale, D Alcantara, M O'Driscoll, WB Dobyns, M Murray, LJ Kim, P Byers, MO Dorschner, M Ferreira
Publication Date: 2019-05-02

Variant appearance in text: KIT: Asp816Val
PMID: 31031011
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Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis.

Haematologica
G Greiner, M Gurbisz, F Ratzinger, N Witzeneder, SV Class, G Eisenwort, I Simonitsch-Klupp, H Esterbauer, M Mayerhofer, L Müllauer, WR Sperr, P Valent, G Hoermann
Publication Date: 2019-04-24

Variant appearance in text: KIT: D816V
PMID: 31018976
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Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality.

Cancer Genomics & Proteomics
S Torkildsen, L Gorunova, S Heim, GE Tjønnfjord, S Spetalen, B Risberg, HTT Tran, I Panagopoulos
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 31018948
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The assessment of minimal residual disease versus that of somatic mutations for predicting the outcome of acute myeloid leukemia patients.

Cancer Cell International
S Salehzadeh, F Guerrini, U Pizzano, S Grassi, E Ciabatti, L Iovino, G Buda, F Caracciolo, E Benedetti, E Orciuolo, M Pelosini, G Consani, G Carulli, MR Metelli, F Martini, F Mazziotta, E Mazzantini, P Rossi, R Tavarozzi, F Ricci, M Petrini, S Galimberti
Publication Date: 2019

Variant appearance in text: KIT: 2447A>T; D816V
PMID: 30992690
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Single-cell analysis reveals the KIT D816V mutation in haematopoietic stem and progenitor cells in systemic mastocytosis.

Ebiomedicine
J Grootens, JS Ungerstedt, M Ekoff, E Rönnberg, M Klimkowska, RM Amini, M Arock, S Söderlund, M Mattsson, G Nilsson, JS Dahlin
Publication Date: 2019-05

Variant appearance in text: KIT: D816V
PMID: 30975542
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Identification of a leukemia-initiating stem cell in human mast cell leukemia.

Leukemia
G Eisenwort, I Sadovnik, J Schwaab, M Jawhar, A Keller, G Stefanzl, D Berger, K Blatt, G Hoermann, M Bilban, M Willmann, C Winding, WR Sperr, M Arock, T Rülicke, A Reiter, P Valent
Publication Date: 2019-11

Variant appearance in text: KIT: D816V
PMID: 30953030
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Oncogenic D816V-KIT signaling in mast cells causes persistent IL-6 production.

Haematologica
A Tobío, G Bandara, DA Morris, DK Kim, MP O'Connell, HD Komarow, MC Carter, D Smrz, DD Metcalfe, A Olivera
Publication Date: 2019-04-04

Variant appearance in text: KIT: D816V
PMID: 30948489
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The unfolded protein response modulators GSK2606414 and KIRA6 are potent KIT inhibitors.

Cell Death & Disease
M Mahameed, T Wilhelm, O Darawshi, A Obiedat, WS Tommy, C Chintha, T Schubert, A Samali, E Chevet, LA Eriksson, M Huber, B Tirosh
Publication Date: 2019-04-01

Variant appearance in text: KIT: D816V
PMID: 30931942
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Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis.

Leukemia
J Lübke, N Naumann, S Kluger, J Schwaab, G Metzgeroth, E Evans, AK Gardino, C Lengauer, WK Hofmann, A Fabarius, NCP Cross, A Reiter, M Jawhar
Publication Date: 2019-05

Variant appearance in text: KIT: D816V
PMID: 30911112
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Discovery and characterization of a novel highly potent and selective type II native and drug-resistant V299L mutant BCR-ABL inhibitor (CHMFL-ABL-039) for Chronic Myeloid Leukemia (CML).

Cancer Biology & Therapy
J Wu, A Wang, X Li, C Chen, Z Qi, C Hu, W Wang, H Wu, T Huang, M Zhao, W Wang, Z Hu, Q Liu, B Wang, L Wang, L Li, J Ge, T Ren, R Xia, J Liu, Q Liu
Publication Date: 2019

Variant appearance in text: KIT: D816V
PMID: 30894066
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Recent advances in our understanding of mast cell activation - or should it be mast cell mediator disorders?

Expert Review Of Clinical Immunology
TC Theoharides, I Tsilioni, H Ren
Publication Date: 2019-06

Variant appearance in text: KIT: D816V
PMID: 30884251
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Exercise-induced anaphylaxis with an Ayurvedic drug as cofactor: A case report.

World Journal Of Clinical Cases
F Losa, M Deidda, D Firinu, MLD Martino, MP Barca, SD Giacco
Publication Date: 2019-03-06

Variant appearance in text: KIT: D816V
PMID: 30863761
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Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization.

Cancer Management And Research
R Yang, M Jiang, J Zhao, H Chen, J Gong, Y You, L Song, Z Li, Q Li
Publication Date: 2019

Variant appearance in text: CD117: D816V
PMID: 30863166
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Impact of Polymerase Fidelity on Background Error Rates in Next-Generation Sequencing with Unique Molecular Identifiers/Barcodes.

Scientific Reports
S Filges, E Yamada, A Ståhlberg, TE Godfrey
Publication Date: 2019-03-05

Variant appearance in text: KIT: D816V
PMID: 30837525
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Identification of Novel HLA Class II-Restricted Neoantigens Derived from Driver Mutations.

Cancers
S Iiizumi, J Ohtake, N Murakami, T Kouro, M Kawahara, F Isoda, H Hamana, H Kishi, N Nakamura, T Sasada
Publication Date: 2019-02-24

Variant appearance in text: C-Kit: D816V
PMID: 30813491
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2019 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Journal Of Clinical Immunology
.
Publication Date: 2019-02

Variant appearance in text: KIT: D816V
PMID: 30809743
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In vitro and in vivo efficacy of an anti-CD203c conjugated antibody (AGS-16C3F) in mouse models of advanced systemic mastocytosis.

Blood Advances
Y Zhang, G Wedeh, L He, M Wittner, F Beghi, V Baral, JM Launay, S Bibi, F Doñate, H Kouros-Mehr, M Arock, F Louache
Publication Date: 2019-02-26

Variant appearance in text: KIT: D816V
PMID: 30804017
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Acute Myeloid Leukemia with Occult Systemic Mastocytosis or Atypical Mast Cells Post-induction.

Cureus
S Khan, Z Abid, HF Siddiqui, S Zahoor, G Haider
Publication Date: 2018-12-14

Variant appearance in text: KIT: D816V
PMID: 30800544
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Complementary activity of tyrosine kinase inhibitors against secondary kit mutations in imatinib-resistant gastrointestinal stromal tumours.

British Journal Of Cancer
C Serrano, A Mariño-Enríquez, DL Tao, J Ketzer, G Eilers, M Zhu, C Yu, AM Mannan, BP Rubin, GD Demetri, CP Raut, A Presnell, A McKinley, MC Heinrich, JT Czaplinski, E Sicinska, S Bauer, S George, JA Fletcher
Publication Date: 2019-03

Variant appearance in text: KIT: D816V
PMID: 30792533
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Clonal Hematopoiesis with Oncogenic Potential (CHOP): Separation from CHIP and Roads to AML.

International Journal Of Molecular Sciences
P Valent, W Kern, G Hoermann, JD Milosevic Feenstra, K Sotlar, M Pfeilstöcker, U Germing, WR Sperr, A Reiter, D Wolf, M Arock, T Haferlach, HP Horny
Publication Date: 2019-02-12

Variant appearance in text: KIT: D816V
PMID: 30759825
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Validation of the Mayo alliance prognostic system for mastocytosis.

Blood Cancer Journal
F Mannelli, F Gesullo, G Rotunno, A Pacilli, L Pieri, P Guglielmelli, AM Vannucchi
Publication Date: 2019-02-11

Variant appearance in text: KIT: D816V
PMID: 30741929
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Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome.

The Journal Of Allergy And Clinical Immunology. In Practice
P Valent, C Akin, P Bonadonna, K Hartmann, K Brockow, M Niedoszytko, B Nedoszytko, F Siebenhaar, WR Sperr, JNG Oude Elberink, JH Butterfield, I Alvarez-Twose, K Sotlar, A Reiter, HC Kluin-Nelemans, O Hermine, J Gotlib, S Broesby-Olsen, A Orfao, HP Horny, M Triggiani, M Arock, LB Schwartz, DD Metcalfe
Publication Date: 2019-04

Variant appearance in text: KIT: D816V
PMID: 30737190
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Data mining for mutation-specific targets in acute myeloid leukemia.

Leukemia
B Benard, AJ Gentles, T Köhnke, R Majeti, D Thomas
Publication Date: 2019-04

Variant appearance in text: KIT: D816V
PMID: 30728456
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The growing role of precision and personalized medicine for cancer treatment.

Technology
P Krzyszczyk, A Acevedo, EJ Davidoff, LM Timmins, I Marrero-Berrios, M Patel, C White, C Lowe, JJ Sherba, C Hartmanshenn, KM O'Neill, ML Balter, ZR Fritz, IP Androulakis, RS Schloss, ML Yarmush
Publication Date: 2018

Variant appearance in text: KIT: D816V
PMID: 30713991
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Bone Marrow Mast Cell Antibody-Targetable Cell Surface Protein Expression Profiles in Systemic Mastocytosis.

International Journal Of Molecular Sciences
N Dasilva-Freire, A Mayado, C Teodosio, M Jara-Acevedo, I Álvarez-Twose, A Matito, L Sánchez-Muñoz, C Caldas, A Henriques, JI Muñoz-González, AC García-Montero, JI Sánchez-Gallego, L Escribano, A Orfao
Publication Date: 2019-01-28

Variant appearance in text: KIT: D816V
PMID: 30696068
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KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis.

Leukemia
M Jawhar, K Döhner, S Kreil, J Schwaab, K Shoumariyeh, M Meggendorfer, LLF Span, S Fuhrmann, N Naumann, HP Horny, K Sotlar, B Kubuschok, N von Bubnoff, K Spiekermann, M Heuser, G Metzgeroth, A Fabarius, S Klein, WK Hofmann, HC Kluin-Nelemans, T Haferlach, H Döhner, NCP Cross, WR Sperr, P Valent, A Reiter
Publication Date: 2019-05

Variant appearance in text: KIT: D816V
PMID: 30635631
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Cutaneous mastocytosis treatment: strategies, limitations and perspectives.

Postepy Dermatologii I Alergologii
J Czarny, M Lange, H Ługowska-Umer, RJ Nowicki
Publication Date: 2018-12

Variant appearance in text: KIT: D816V
PMID: 30618520
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Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia.

Leukemia
NCP Cross, Y Hoade, WJ Tapper, G Carreno-Tarragona, T Fanelli, M Jawhar, N Naumann, I Pieniak, J Lübke, S Ali, K Bhuller, S Burgstaller, C Cargo, J Cavenagh, AS Duncombe, E Das-Gupta, P Evans, P Forsyth, P George, C Grimley, F Jack, L Munro, V Mehra, K Patel, A Rismani, G Sciuccati, R Thomas-Dewing, P Thornton, A Virchis, S Watt, L Wallis, A Whiteway, K Zegocki, BJ Bain, A Reiter, A Chase
Publication Date: 2019-02

Variant appearance in text: KIT: D816V
PMID: 30573779
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000288135.5 c.2447A>T p.Asp816Val missense_variant 17/21 -
ENST00000412167.2 c.2435A>T p.Asp812Val missense_variant 17/21 -
ENST00000512959.1 n.500A>T - non_coding_transcript_exon_variant 4/4 -
NM_000222.2 c.2447A>T p.Asp816Val missense_variant 17/21 -
NM_001093772.1 c.2435A>T p.Asp812Val missense_variant 17/21 -