Publications:

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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology

Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL

Publication Date: 2023-03-31

Variant appearance in text: KIT: S476I

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

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Mast Cell Leukemia: An Update with a Practical Review.

Cancers

Zanelli, Magda M; Quintini, Martina M; Magnasco, Salvatore S; Aprile, Lara L; Palicelli, Andrea A; Zizzo, Maurizio M; Sanguedolce, Francesca F; Ricci, Stefano S; Pancetti, Saverio S; Zuccalà, Valeria V; Martino, Veronica V; Broggi, Giuseppe G; Caltabiano, Rosario R; Cavazza, Alberto A; Parente, Paola P; Mecucci, Cristina C; Martino, Giovanni G; Ascani, Stefano S

Publication Date: 2023-03-08

Variant appearance in text: KIT: S476I

PubMed Link: 36980550

Variant Present in the following documents:

• cancers-15-01664.pdf

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Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Cancers

Suthapot, Praewa P; Chiangjong, Wararat W; Chaiyawat, Parunya P; Choochuen, Pongsakorn P; Pruksakorn, Dumnoensun D; Sangkhathat, Surasak S; Hongeng, Suradej S; Anurathapan, Usanarat U; Chutipongtanate, Somchai S

Publication Date: 2023-02-23

Variant appearance in text: KIT: S476I

PubMed Link: 36900212

Variant Present in the following documents:

• Main text

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: KIT: 1427G>T; S476I

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

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Towards personalized medicine with iPS cell technology: a case report of advanced systemic mastocytosis with associated eosinophilia.

Annals Of Hematology

Atakhanov, Salim S; Christen, Deborah D; Rolles, Benjamin B; Schüler, Herdit M HM; Panse, Jens J; Chatain, Nicolas N; Koschmieder, Steffen S; Brümmendorf, Tim H TH; Toledo, Marcelo A S MAS; Zenke, Martin M

Publication Date: 2022-11

Variant appearance in text: KIT: S476I

PubMed Link: 36125543

Variant Present in the following documents:

• Main text
• 277_2022_Article_4975.pdf

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: KIT: 1427G>T; S476I

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

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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: S476I

PubMed Link: 35884535

Variant Present in the following documents:

• cancers-14-03474.pdf

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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: S476I

PubMed Link: 35626091

Variant Present in the following documents:

• cancers-14-02487.pdf

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Molecular Portrait of GISTs Associated With Clinicopathological Features: A Retrospective Study With Molecular Analysis by a Custom 9-Gene Targeted Next-Generation Sequencing Panel.

Frontiers In Genetics

Qian, Haoran H; Yan, Na N; Hu, Xiaotong X; Jiang, Junchang J; Cao, Zhengzheng Z; Shen, Dan D

Publication Date: 2022

Variant appearance in text: KIT: 1427G>T

PubMed Link: 35547262

Variant Present in the following documents:

• Main text
• fgene-13-864499.pdf
• DataSheet1.xlsx, sheet 1

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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: S476I

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: S476I

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: S476I

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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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: S476I

PubMed Link: 33806685

Variant Present in the following documents:

• Main text
• ijms-22-02586.pdf

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Analysis of C-Kit Exon 9, Exon 11 and BRAFV600E Mutations Using Sangers Sequencing in Gastrointestinal Stromal Tumours.

Cureus

Madhala, Divya D; Sundaram, Sandhya S; Chinambedudandapani, MohanaPriya M; Balasubramanian, Archana A

Publication Date: 2020-03-22

Variant appearance in text: KIT: 1427G>T

PubMed Link: 32328381

Variant Present in the following documents:

• Main text
• cureus-0012-00000007369.pdf

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

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

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

Publication Date: 2020-07

Variant appearance in text: KIT: S476I

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: KIT: S476I

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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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: S476I

PubMed Link: 30867899

Variant Present in the following documents:

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

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MEK/CDK4,6 co-targeting is effective in a subset of NRAS, BRAF and 'wild type' melanomas.

Oncotarget

Posch, Christian C; Sanlorenzo, Martina M; Ma, Jeffrey J; Kim, Sarasa T ST; Zekhtser, Mitchell M; Ortiz-Urda, Susana S

Publication Date: 2018-10-09

Variant appearance in text: KIT: S476I

PubMed Link: 30405888

Variant Present in the following documents:

• oncotarget-09-34990-s001.pdf

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Targeting the HGF/MET Axis Counters Primary Resistance to KIT Inhibition in KIT-Mutant Melanoma.

Jco Precision Oncology

Oba, Junna J; Kim, Sun-Hee SH; Wang, Wei-Lien WL; Macedo, Mariana P MP; Carapeto, Fernando F; McKean, Meredith A MA; Van Arnam, John J; Eterovic, Agda K AK; Sen, Shiraj S; Kale, Charuta R CR; Yu, Xiaoxing X; Haymaker, Cara L CL; Routbort, Mark M; Haydu, Lauren E LE; Bernatchez, Chantale C; Lazar, Alexander J AJ; Grimm, Elizabeth A EA; Hong, David S DS; Woodman, Scott E SE

Publication Date: 2018

Variant appearance in text: KIT: S476I

PubMed Link: 30094412

Variant Present in the following documents:

• Main text

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The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.

Haematologica

Jawhar, Mohamad M; Schwaab, Juliana J; Meggendorfer, Manja M; Naumann, Nicole N; Horny, Hans-Peter HP; Sotlar, Karl K; Haferlach, Torsten T; Schmitt, Karla K; Fabarius, Alice A; Valent, Peter P; Hofmann, Wolf-Karsten WK; Cross, Nicholas C P NCP; Metzgeroth, Georgia G; Reiter, Andreas A

Publication Date: 2017-06

Variant appearance in text: KIT: S476I

PubMed Link: 28255023

Variant Present in the following documents:

• 1021035.pdf

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A scientific treatment approach for acute mast cell leukemia: using a strategy based on next-generation sequencing data.

Blood Research

Youk, Jeonghwan J; Koh, Youngil Y; Kim, Ji-Won JW; Kim, Dae-Yoon DY; Park, Hyunkyung H; Jung, Woo June WJ; Ahn, Kwang-Sung KS; Yun, Hongseok H; Park, Inho I; Sun, Choong-Hyun CH; Lee, Seungmook S; Yoon, Sung-Soo SS

Publication Date: 2016-03

Variant appearance in text: KIT: S476I

PubMed Link: 27104187

Variant Present in the following documents:

• Main text

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Application of next generation sequencing in the diagnosis and management of mast cell leukemia.

Blood Research

Kim, Juwon J

Publication Date: 2016-03

Variant appearance in text: KIT: S476I

PubMed Link: 27104182

Variant Present in the following documents:

• Main text
• br-51-1.pdf

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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: S476I

PubMed Link: 26158763

Variant Present in the following documents:

• Main text
• oncotarget-06-18250.pdf

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Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.

Leukemia Research

Valent, Peter P; Sotlar, Karl K; Sperr, Wolfgang R WR; Reiter, Andreas A; Arock, Michel M; Horny, Hans-Peter HP

Publication Date: 2015-01

Variant appearance in text: KIT: S476I

PubMed Link: 25443885

Variant Present in the following documents:

• Main text

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Dual antiangiogenic inhibition: a phase I dose escalation and expansion trial targeting VEGF-A and VEGFR in patients with advanced solid tumors.

Investigational New Drugs

Falchook, Gerald S GS; Wheler, Jennifer J JJ; Naing, Aung A; Piha-Paul, Sarina A SA; Fu, Siqing S; Tsimberidou, Apostolia M AM; Hong, David S DS; Janku, Filip F; Zinner, Ralph R; Jiang, Yunfang Y; Huang, Mei M; Lin, Quan Q; Parkhurst, Kristin K; Kurzrock, Razelle R

Publication Date: 2015-02

Variant appearance in text: KIT: S476I

PubMed Link: 25363205

Variant Present in the following documents:

• Main text

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: KIT: S476I

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage.

Annals Of Hematology

Valent, Peter P; Berger, Jörg J; Cerny-Reiterer, Sabine S; Peter, Barbara B; Eisenwort, Gregor G; Hoermann, Gregor G; Müllauer, Leonhard L; Mannhalter, Christine C; Steurer, Michael M; Bettelheim, Peter P; Horny, Hans-Peter HP; Arock, Michel M

Publication Date: 2015-02

Variant appearance in text: KIT: 1427G>T

PubMed Link: 25209843

Variant Present in the following documents:

• Main text

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Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Plos One

Kelly, Lorna L; Bryan, Kenneth K; Kim, Su Young SY; Janeway, Katherine A KA; Killian, J Keith JK; Schildhaus, Hans-Ulrich HU; Miettinen, Markku M; Helman, Lee L; Meltzer, Paul S PS; van de Rijn, Matt M; Debiec-Rychter, Maria M; O'Sullivan, Maureen M; ,

Publication Date: 2013

Variant appearance in text: KIT: S476I

PubMed Link: 23717541

Variant Present in the following documents:

• Main text
• pone.0064102.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: S476I

PubMed Link: 22957768

Variant Present in the following documents:

• Main text

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