Publications:

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

International Journal Of Molecular Sciences

Katagiri, Seiichiro S; Chi, SungGi S; Minami, Yosuke Y; Fukushima, Kentaro K; Shibayama, Hirohiko H; Hosono, Naoko N; Yamauchi, Takahiro T; Morishita, Takanobu T; Kondo, Takeshi T; Yanada, Masamitsu M; Yamamoto, Kazuhito K; Kuroda, Junya J; Usuki, Kensuke K; Akahane, Daigo D; Gotoh, Akihiko A

Publication Date: 2022-04-23

Variant appearance in text: KIT: A533D

PubMed Link: 35563085

Variant Present in the following documents:

• ijms-23-04694.pdf

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Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.

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

Shi, Qiong Q; Liu, Lin L; Chen, Jianru J; Zhang, Weigang W; Guo, Weinan W; Wang, Xiao X; Wang, Huina H; Guo, Sen S; Yue, Qiao Q; Ma, Jingjing J; Liu, Yu Y; Zhu, Guannan G; Zhao, Tao T; Zhao, Jianhong J; Liu, Ying Y; Gao, Tianwen T; Li, Chunying C

Publication Date: 2022-06-13

Variant appearance in text: KIT: A533D

PubMed Link: 35294533

Variant Present in the following documents:

• ccr-21-3344_supplementary_data_suppsd1.xlsx, sheet 7

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: KIT: A533D

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery

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

Publication Date: 2021-11

Variant appearance in text: KIT: A533D

PubMed Link: 34778799

Variant Present in the following documents:

• bloodcandisc-2-586-s001.xlsx, sheet 11
• bloodcandisc-2-586-s001.xlsx, sheet 16

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Systemic Mastocytosis: Molecular Landscape and Implications for Treatment.

Mediterranean Journal Of Hematology And Infectious Diseases

Monaldi, Cecilia C; De Santis, Sara S; Mancini, Manuela M; Bruno, Samantha S; Cavo, Michele M; Soverini, Simona S

Publication Date: 2021

Variant appearance in text: KIT: A533D

PubMed Link: 34276915

Variant Present in the following documents:

• Main text
• mjhid-13-1-e2021046.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: A533D

PubMed Link: 33806685

Variant Present in the following documents:

• Main text
• ijms-22-02586.pdf

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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: A533D

PubMed Link: 32461694

Variant Present in the following documents:

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

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Recent advances in the understanding and therapeutic management of mastocytosis.

F1000Research

Rossignol, Julien J; Polivka, Laura L; Maouche-Chrétien, Leila L; Frenzel, Laurent L; Dubreuil, Patrice P; Hermine, Olivier O

Publication Date: 2019

Variant appearance in text: KIT: A533D

PubMed Link: 31824655

Variant Present in the following documents:

• Main text
• f1000research-8-21341.pdf

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Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Melanoma Research

Saglam, Ozlen O; Naqvi, Syeda M H SMH; Zhang, Yonghong Y; Mesa, Tania T; Teer, Jamie K JK; Yoder, Sean S; Lee, Jae J; Messina, Jane J

Publication Date: 2018-12

Variant appearance in text: KIT: A533D

PubMed Link: 30028779

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Nature

Ma, Xiaotu X; Liu, Yu Y; Liu, Yanling Y; Alexandrov, Ludmil B LB; Edmonson, Michael N MN; Gawad, Charles C; Zhou, Xin X; Li, Yongjin Y; Rusch, Michael C MC; Easton, John J; Huether, Robert R; Gonzalez-Pena, Veronica V; Wilkinson, Mark R MR; Hermida, Leandro C LC; Davis, Sean S; Sioson, Edgar E; Pounds, Stanley S; Cao, Xueyuan X; Ries, Rhonda E RE; Wang, Zhaoming Z; Chen, Xiang X; Dong, Li L; Diskin, Sharon J SJ; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Meltzer, Paul S PS; Lau, Ching C CC; Perlman, Elizabeth J EJ; Maris, John M JM; Meshinchi, Soheil S; Hunger, Stephen P SP; Gerhard, Daniela S DS; Zhang, Jinghui J

Publication Date: 2018-03-15

Variant appearance in text: KIT: A533D

PubMed Link: 29489755

Variant Present in the following documents:

• NIHMS939556-supplement-Table_2-7.xlsx, sheet 4

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Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome.

Allergy, Asthma, And Clinical Immunology : Official Journal Of The Canadian Society Of Allergy And Clinical Immunology

Conde-Fernandes, Iolanda I; Sampaio, Rita R; Moreno, Filipa F; Palla-Garcia, José J; Teixeira, Maria Dos Anjos MDA; Freitas, Inês I; Neves, Esmeralda E; Jara-Acevedo, Maria M; Escribano, Luis L; Lima, Margarida M

Publication Date: 2017

Variant appearance in text: KIT: A533D

PubMed Link: 28439288

Variant Present in the following documents:

• Main text
• 13223_2017_Article_193.pdf

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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis.

Cell & Bioscience

Ke, Hengning H; Kazi, Julhash U JU; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2016

Variant appearance in text: KIT: A533D

PubMed Link: 27777718

Variant Present in the following documents:

• Main text
• 13578_2016_Article_120.pdf

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KIT exon 10 variant (c.1621 A > C) single nucleotide polymorphism as predictor of GIST patient outcome.

Bmc Cancer

Brahmi, Mehdi M; Alberti, Laurent L; Dufresne, Armelle A; Ray-Coquard, Isabelle I; Cassier, Philippe P; Meeus, Pierre P; Decouvelaere, Anne-Valérie AV; Ranchère-Vince, Dominique D; Blay, Jean-Yves JY

Publication Date: 2015-10-24

Variant appearance in text: KIT: A533D

PubMed Link: 26498480

Variant Present in the following documents:

• Main text

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Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder.

Oncotarget

Chatterjee, Anindya A; Ghosh, Joydeep J; Kapur, Reuben R

Publication Date: 2015-07-30

Variant appearance in text: KIT: A533D

PubMed Link: 26158763

Variant Present in the following documents:

• Main text
• oncotarget-06-18250.pdf

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Evolutionary-guided de novo structure prediction of self-associated transmembrane helical proteins with near-atomic accuracy.

Nature Communications

Wang, Y Y; Barth, P P

Publication Date: 2015-05-21

Variant appearance in text: KIT: A533D

PubMed Link: 25995083

Variant Present in the following documents:

• Main text

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KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Leukemia

Arock, M M; Sotlar, K K; Akin, C C; Broesby-Olsen, S S; Hoermann, G G; Escribano, L L; Kristensen, T K TK; Kluin-Nelemans, H C HC; Hermine, O O; Dubreuil, P P; Sperr, W R WR; Hartmann, K K; Gotlib, J J; Cross, N C P NC; Haferlach, T T; Garcia-Montero, A A; Orfao, A A; Schwaab, J J; Triggiani, M M; Horny, H-P HP; Metcalfe, D D DD; Reiter, A A; Valent, P P

Publication Date: 2015-06

Variant appearance in text: KIT: A533D

PubMed Link: 25650093

Variant Present in the following documents:

• Main text

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Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype.

The Journal Of Allergy And Clinical Immunology

Chan, Eunice Ching EC; Bai, Yun Y; Kirshenbaum, Arnold S AS; Fischer, Elizabeth R ER; Simakova, Olga O; Bandara, Geethani G; Scott, Linda M LM; Wisch, Laura B LB; Cantave, Daly D; Carter, Melody C MC; Lewis, John C JC; Noel, Pierre P; Maric, Irina I; Gilfillan, Alasdair M AM; Metcalfe, Dean D DD; Wilson, Todd M TM

Publication Date: 2014-07

Variant appearance in text: KIT: A533D

PubMed Link: 24582309

Variant Present in the following documents:

• Main text

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Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression.

European Journal Of Haematology

Verstovsek, Srdan S

Publication Date: 2013-02

Variant appearance in text: KIT: A533D

PubMed Link: 23181448

Variant Present in the following documents:

• Main text
• ejh0090-0089.pdf

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Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics.

Immunology

Haenisch, Britta B; Nöthen, Markus M MM; Molderings, Gerhard J GJ

Publication Date: 2012-11

Variant appearance in text: KIT: A533D

PubMed Link: 22957768

Variant Present in the following documents:

• Main text

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Mastocytosis.

Chemical Immunology And Allergy

Brockow, Knut K; Metcalfe, Dean D DD

Publication Date: 2010

Variant appearance in text: KIT: A533D

PubMed Link: 20519885

Variant Present in the following documents:

• Main text

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A V530I Mutation in c-KIT Exon 10 Is Associated to Imatinib Response in Extraabdominal Aggressive Fibromatosis.

Sarcoma

Kurtz, Jean-Emmanuel JE; Asmane, Irène I; Voegeli, Anne-Claire AC; Neuville, Agnès A; Dufresne, Armelle A; Litique, Valère V; Chevreau, Christine C; Bergerat, Jean-Pierre JP

Publication Date: 2010

Variant appearance in text: KIT: A533D

PubMed Link: 20339585

Variant Present in the following documents:

• Main text
• SRCM2010-458156.pdf

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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: A533D

PubMed Link: 17065430

Variant Present in the following documents:

• Main text

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