Publications:

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Recent advances in diagnosis and therapy in systemic mastocytosis.

Blood Research

Lee, Hyun Jung HJ

Publication Date: 2023-04-30

Variant appearance in text: KIT: D820G

PubMed Link: 37105564

Variant Present in the following documents:

• br-58-s1-s96.pdf

View BVdb publication page

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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: 2459A>G; D820G; rs121913682

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review.

International Journal Of Molecular Sciences

Ge, Qichao Q; Liu, Yang Y; Yang, Fan F; Sun, Guangwei G; Guo, Jintao J; Sun, Siyu S

Publication Date: 2023-01-03

Variant appearance in text: KIT: Asp820Gly

PubMed Link: 36614290

Variant Present in the following documents:

• ijms-24-00830.pdf

View BVdb publication page

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The First Case of Acute Myeloid Leukemia With a Novel Five-way Variant Translocation of RUNX1-RUNX1T1.

Annals Of Laboratory Medicine

Jo, Yong Hun YH; Han, Eun-Ae EA; Park, Seong Kyu SK; Jeon, Byung Ryul BR; Jang, Mi-Ae MA

Publication Date: 2023-05-01

Variant appearance in text: KIT: Asp820Gly

PubMed Link: 36544347

Variant Present in the following documents:

• alm-43-3-315.pdf

View BVdb publication page

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: KIT: 2459A>G; Asp820Gly

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.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: D820G; rs121913682

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: D820G

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: D820G

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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Target Therapies for Systemic Mastocytosis: An Update.

Pharmaceuticals (Basel, Switzerland)

Sciumè, Mariarita M; De Magistris, Claudio C; Galli, Nicole N; Ferretti, Eleonora E; Milesi, Giulia G; De Roberto, Pasquale P; Fabris, Sonia S; Grifoni, Federica Irene FI

Publication Date: 2022-06-11

Variant appearance in text: KIT: D820G

PubMed Link: 35745657

Variant Present in the following documents:

• Main text
• pharmaceuticals-15-00738.pdf

View BVdb publication page

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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: CD117: D820G

PubMed Link: 35563085

Variant Present in the following documents:

• ijms-23-04694.pdf

View BVdb publication page

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Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Nature Communications

Liu, Ting T; Rao, Jianan J; Hu, Wenting W; Cui, Bowen B; Cai, Jiaoyang J; Liu, Yuhan Y; Sun, Huiying H; Chen, Xiaoxiao X; Tang, Yanjing Y; Chen, Jing J; Wang, Xiang X; Wang, Han H; Qian, Wubin W; Mao, Binchen B; Guo, Sheng S; Wang, Ronghua R; Liu, Yu Y; Shen, Shuhong S

Publication Date: 2022-03-28

Variant appearance in text: KIT: D820G

PubMed Link: 35347147

Variant Present in the following documents:

• Main text
• 41467_2022_Article_29336.pdf
• 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1

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: 2459A>G; Asp820Gly; rs121913682

PubMed Link: 35257510

Variant Present in the following documents:

• CJP2-8-395-s002.xlsx, sheet 1

View BVdb publication page

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Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research

Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL

Publication Date: 2022-05

Variant appearance in text: KIT: D820G

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s002.pdf

View BVdb publication page

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The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology.

Nature Cancer

Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J

Publication Date: 2022-02

Variant appearance in text: KIT: Asp820Gly

PubMed Link: 35221333

Variant Present in the following documents:

• 43018_2022_332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Phase II Study of Ponatinib in Advanced Gastrointestinal Stromal Tumors: Efficacy, Safety, and Impact of Liquid Biopsy and Other Biomarkers.

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

George, Suzanne S; von Mehren, Margaret M; Fletcher, Jonathan A JA; Sun, Jichao J; Zhang, Sen S; Pritchard, Justin R JR; Hodgson, John Graeme JG; Kerstein, David D; Rivera, Victor M VM; Haluska, Frank G FG; Heinrich, Michael C MC

Publication Date: 2022-04-01

Variant appearance in text: KIT: D820G

PubMed Link: 35091442

Variant Present in the following documents:

• ccr-21-2037_supplementary_data_supp0.pdf

View BVdb publication page

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Newly Developed Psoriasis in a Patient with Telangiectasia Macularis Eruptiva Perstans and Systemic Mastocytosis Treated with Interferon.

Case Reports In Dermatology

Péčová, Tatiana T; Burjanivová, Tatiana T; Malicherová, Bibiana B; Péč, Martin Jozef MJ; Rohoň, Igor I; Madleňák, Matúš M; Adamicová, Katarína K; Péč, Juraj J

Publication Date: 2021

Variant appearance in text: CD117: Asp820Gly

PubMed Link: 35082619

Variant Present in the following documents:

• Main text
• cde-0013-0558.pdf

View BVdb publication page

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Broad spectrum of regorafenib activity on mutant KIT and absence of clonal selection in gastrointestinal stromal tumor (GIST): correlative analysis from the GRID trial.

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

Jeffers, Michael M; Kappeler, Christian C; Kuss, Iris I; Beckmann, Georg G; Mehnert, Daniel H DH; Fredebohm, Johannes J; Teufel, Michael M

Publication Date: 2022-05

Variant appearance in text: KIT: D820G

PubMed Link: 35050442

Variant Present in the following documents:

• Main text
• 10120_2021_Article_1274.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: 2459A>G; Asp820Gly

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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The Role of Avapritinib for the Treatment of Systemic Mastocytosis.

Cureus

Sumbly, Vikram V; Landry, Ian I; Iqbal, Saba S; Bhatti, Zamaraq Z; Alshamam, Mohsen S MS; Ashfaq, Salman S; Rizzo, Vincent V

Publication Date: 2021-09

Variant appearance in text: KIT: D820G

PubMed Link: 34729266

Variant Present in the following documents:

• Main text
• cureus-0013-00000018385.pdf

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: D820G

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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The impact of the combination of KIT mutation and minimal residual disease on outcome in t(8;21) acute myeloid leukemia.

Blood Cancer Journal

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

Publication Date: 2021-04-01

Variant appearance in text: KIT: D820G

PubMed Link: 33795645

Variant Present in the following documents:

• Main text
• 41408_2021_Article_461.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: 2459A>G; D820G

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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

Clinical And Experimental Medicine

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

Publication Date: 2021-08

Variant appearance in text: KIT: D820G

PubMed Link: 33687603

Variant Present in the following documents:

• Main text
• 10238_2021_Article_693.pdf

View BVdb publication page

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Update on Molecular Genetics of Gastrointestinal Stromal Tumors.

Diagnostics (Basel, Switzerland)

Brčić, Iva I; Argyropoulos, Alexandra A; Liegl-Atzwanger, Bernadette B

Publication Date: 2021-01-28

Variant appearance in text: KIT: D820G

PubMed Link: 33525726

Variant Present in the following documents:

• Main text
• diagnostics-11-00194.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: KIT: 2459A>G; D820G

PubMed Link: 33397889

Variant Present in the following documents:

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

View BVdb publication page

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A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.

Journal Of Personalized Medicine

Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R

Publication Date: 2020-11-17

Variant appearance in text: KIT: D820G

PubMed Link: 33212994

Variant Present in the following documents:

• Main text
• jpm-10-00234.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: D820G

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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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs121913682

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KIT: D820G

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Cerebrospinal fluid ctDNA and metabolites are informative biomarkers for the evaluation of CNS germ cell tumors.

Scientific Reports

Takayasu, Takeshi T; Shah, Mauli M; Dono, Antonio A; Yan, Yuanqing Y; Borkar, Roshan R; Putluri, Nagireddy N; Zhu, Jay-Jiguang JJ; Hama, Seiji S; Yamasaki, Fumiyuki F; Tahara, Hidetoshi H; Sugiyama, Kazuhiko K; Kurisu, Kaoru K; Esquenazi, Yoshua Y; Ballester, Leomar Y LY

Publication Date: 2020-08-31

Variant appearance in text: KIT: D820G

PubMed Link: 32868820

Variant Present in the following documents:

• Main text
• 41598_2020_Article_71161.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: KIT: 2459A>G; Asp820Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

View BVdb publication page

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: KIT: D820G

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: D820G

PubMed Link: 32461694

Variant Present in the following documents:

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

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: KIT: 2459A>G; D820G

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications

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

Publication Date: 2020-05-04

Variant appearance in text: KIT: D820G

PubMed Link: 32366847

Variant Present in the following documents:

• 41467_2020_15768_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Differential antitumor activity of compounds targeting the ubiquitin-proteasome machinery in gastrointestinal stromal tumor (GIST) cells.

Scientific Reports

Rausch, Jessica L JL; Ali, Areej A AA; Lee, Donna M DM; Gebreyohannes, Yemarshet K YK; Mehalek, Keith R KR; Agha, Aya A; Patil, Sneha S SS; Tolstov, Yanis Y; Wellens, Jasmien J; Dhillon, Harbir S HS; Makielski, Kathleen R KR; Debiec-Rychter, Maria M; Schöffski, Patrick P; Wozniak, Agnieszka A; Duensing, Anette A

Publication Date: 2020-03-20

Variant appearance in text: KIT: D820G

PubMed Link: 32198455

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62088.pdf

View BVdb publication page

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

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

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

Publication Date: 2020-07

Variant appearance in text: KIT: D820G

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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Loss of PI3 kinase association improves the sensitivity of secondary mutation of KIT to Imatinib.

Cell & Bioscience

Zhu, Guangrong G; Shi, Jun J; Zhang, Shaoting S; Guo, Yue Y; Huang, Ling L; Zhao, Hui H; Jiang, Yideng Y; Sun, Jianmin J

Publication Date: 2020

Variant appearance in text: KIT: D820G

PubMed Link: 32082541

Variant Present in the following documents:

• Main text
• 13578_2020_Article_377.pdf

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: D820G

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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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: KIT: Asp820Gly

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Novel approaches to treating advanced systemic mastocytosis.

Clinical Pharmacology : Advances And Applications

Gilreath, J A JA; Tchertanov, L L; Deininger, M W MW

Publication Date: 2019

Variant appearance in text: KIT: D820G

PubMed Link: 31372066

Variant Present in the following documents:

• Main text

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Molecular Comparison of Imatinib-Naïve and Resistant Gastrointestinal Stromal Tumors: Differentially Expressed microRNAs and mRNAs.

Cancers

Amirnasr, Azadeh A; Gits, Caroline M M CMM; van Kuijk, Patricia F PF; Smid, Marcel M; Vriends, Anne L M ALM; Rutkowski, Piotr P; Sciot, Raf R; Schöffski, Patrick P; Debiec-Rychter, Maria M; Sleijfer, Stefan S; Wiemer, Erik A C EAC

Publication Date: 2019-06-24

Variant appearance in text: KIT: D820G

PubMed Link: 31238586

Variant Present in the following documents:

• Main text

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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: D820G

PubMed Link: 31043947

Variant Present in the following documents:

• cro-0012-0109-s01.pdf

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