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: D816Y

PubMed Link: 37105564

Variant Present in the following documents:

• br-58-s1-s96.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: KIT: D816Y

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 4
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM10_ESM.xlsx, sheet 2
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

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: 2446G>T; D816Y; rs121913506

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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Impact of SHP2 tyrosine phosphorylation on the development of acquired resistance to allosteric SHP2 inhibitors.

Oncotarget

Franciosa, Giulia G; Olsen, Jesper V JV

Publication Date: 2023-03-31

Variant appearance in text: KIT: D816Y

PubMed Link: 36999992

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: D816Y

PubMed Link: 36980550

Variant Present in the following documents:

• Main text
• cancers-15-01664.pdf

View BVdb publication page

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Preclinical development and evaluation of nanobody-based CD70-specific CAR T cells for the treatment of acute myeloid leukemia.

Cancer Immunology, Immunotherapy : Cii

Cheng, Jiali J; Ge, Tong T; Zhu, Xiaojian X; Wang, Jue J; Zeng, Yuhao Y; Mu, Wei W; Cai, Haodong H; Dai, Zhenyu Z; Jin, Jin J; Yang, Yongkun Y; Hu, Guang G; Mao, Xia X; Zhou, Jianfeng J; Zhu, Li L; Huang, Liang L

Publication Date: 2023-03-17

Variant appearance in text: KIT: D816Y

PubMed Link: 36932256

Variant Present in the following documents:

• 262_2023_3422_MOESM3_ESM.xlsx, sheet 1

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: 2446G>T; Asp816Tyr

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

View BVdb publication page

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A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology

,

Publication Date: 2022-11-24

Variant appearance in text: KIT: 2446G>T; D816Y

PubMed Link: 36436542

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Clearance of bone marrow mast cells after hypomethylating agent and venetoclax for systemic mastocytosis associated with myeloid neoplasia.

European Journal Of Haematology

Pourhassan, Hoda H; Kim, Young Y; Pullarkat, Vinod V

Publication Date: 2022-11-06

Variant appearance in text: KIT: D816Y

PubMed Link: 36335580

Variant Present in the following documents:

• Main text
• EJH-110-213.pdf

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: KIT: 2446G>T; D816Y

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of lung cancer in the young.

Frontiers In Oncology

Ruiz, Rossana R; Galvez-Nino, Marco M; Roque, Katia K; Montes, Jaime J; Nuñez, Maria M; Raez, Luis L; Sánchez-Gambetta, Sergio S; Jaúregui, Sandra S; Viale, Sandra S; Smith, Edward S ES; Pinto, Joseph A JA; Mas, Luis L

Publication Date: 2022

Variant appearance in text: KIT: D816Y

PubMed Link: 36263208

Variant Present in the following documents:

• DataSheet_2.pdf

View BVdb publication page

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Mast Cell Leukemia: Clinical and Molecular Features and Survival Outcomes of Patients in the ECNM Registry.

Blood Advances

Kennedy, Vanessa E VE; Perkins, Cecelia C; Reiter, Andreas A; Jawhar, Mohamad M; Lübke, Johannes J; Kluin-Nelemans, Hanneke C HC; Shomali, William W; Langford, Cheryl C; Abuel, Justin J; Hermine, Olivier O; Niedoszytko, Marek M; Gorska, Aleksandra A; Mital, Andrzej A; Bonadonna, Patrizia P; Zanotti, Roberta R; Tanasi, Ilaria I; Mattsson, Mattias M; Hagglund, Hans G HG; Triggiani, Massimo M; Yavuz, Akif Selim AS; Panse, Jens Peter JP; Christen, Deborah D; Heizmann, Marc M; Shoumariyeh, Khalid K; Müller, Sabine S; Elena, Chiara C; Malcovati, Luca L; Fiorelli, Nicolas N; Wortmann, Friederike F; Vucinic, Vladan V; Brockow, Knut K; Fokoloros, Christos C; Papageorgiou, Sotirios G SG; Breynaert, Christine C; Bullens, Dominique D; Doubek, Michael M; Ilerhaus, Anja A; Angelova-Fischer, Irena I; Solomianyi, Oleksii O; Varkonyi, Judit J; Sabato, Vito V; Rüfer, Axel A; Schug, Tanja T; Hermans, Maud A W MAW; Belloni Fortina, Anna A; Caroppo, Francesca F; Bumbea, Horia H; Gulen, Theo T; Hartmann, Karin K; Oude Elberink, Hanneke H; Schwaab, Juliana J; Arock, Michel M; Valent, Peter P; Sperr, Wolfgang W; Gotlib, Jason J

Publication Date: 2022-09-12

Variant appearance in text: KIT: D816Y

PubMed Link: 36094848

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery

Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT

Publication Date: 2022-11-02

Variant appearance in text: KIT: D816Y

PubMed Link: 35960210

Variant Present in the following documents:

• bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10

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: D816Y

PubMed Link: 35884535

Variant Present in the following documents:

• Main text
• cancers-14-03474.pdf

View BVdb publication page

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Clonal hematopoiesis is not significantly associated with COVID-19 disease severity.

Blood

Zhou, Yifan Y; Shalhoub, Ruba R; Rogers, Stephanie N SN; Yu, Shiqin S; Gu, Muxin M; Fabre, Margarete A MA; Quiros, Pedro M PM; Shin, Tae-Hoon TH; Diangson, Arch A; Deng, Wenhan W; Anand, Shubha S; Lu, Wenhua W; Cullen, Matthew M; Godfrey, Anna L AL; Preller, Jacobus J; Hadjadj, Jerome J; Jouanguy, Emmanuelle E; Cobat, Aurélie A; Abel, Laurent L; Rieux-Laucat, Frederic F; Terrier, Benjamin B; Fischer, Alain A; Novik, Lara L; Gordon, Ingelise J IJ; Strom, Larisa L; Gaudinski, Martin R MR; Lisco, Andrea A; Sereti, Irini I; Gniadek, Thomas J TJ; Biondi, Andrea A; Bonfanti, Paolo P; Imberti, Luisa L; Dalgard, Clifton L CL; Zhang, Yu Y; Dobbs, Kerry K; Su, Helen C HC; Notarangelo, Luigi D LD; Wu, Colin O CO; Openshaw, Peter J M PJM; Semple, Malcolm G MG; Mallat, Ziad Z; Baillie, Kenneth K; Dunbar, Cynthia E CE; Vassiliou, George S GS

Publication Date: 2022-10-06

Variant appearance in text: KIT: D816Y

PubMed Link: 35839449

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: KIT: D816Y

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine

Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC

Publication Date: 2022-06-16

Variant appearance in text: KIT: D816Y

PubMed Link: 35706047

Variant Present in the following documents:

• 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1

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: KIT: D816Y

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: D816Y

PubMed Link: 35347147

Variant Present in the following documents:

• 41467_2022_29336_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Mastocytosis presenting with mast cell-mediator release-associated symptoms elicited by cyclo oxygenase inhibitors: prevalence, clinical, and laboratory features.

Clinical And Translational Allergy

Rama, Tiago Azenha TA; Morgado, José Mário JM; Henriques, Ana A; Escribano, Luis L; Alvarez-Twose, Iván I; Sanchez-Muñoz, Laura L; Moreira, André A; Romão, José J; Órfão, Alberto A; Matito, Almudena A

Publication Date: 2022-03

Variant appearance in text: KIT: D816Y

PubMed Link: 35344302

Variant Present in the following documents:

• Main text
• CLT2-12-e12132.pdf

View BVdb publication page

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Case Report: Metagenomic Next-Generation Sequencing Can Contribute to the Diagnosis and Treatment of Disseminated Visceral Kaposi Sarcoma Following Allogeneic Haematopoietic Stem Cell Transplantation.

Frontiers In Oncology

Zhou, Kuangguo K; Xu, Jinhuan J; Shang, Zhen Z; Sun, Hanying H; Shen, Kefeng K; Xiao, Yi Y

Publication Date: 2022

Variant appearance in text: C-Kit: D816Y

PubMed Link: 35280783

Variant Present in the following documents:

• fonc-12-848976.pdf

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: 2446G>T; Asp816Tyr

PubMed Link: 35229492

Variant Present in the following documents:

• PCMR-35-369-s003.xlsx, sheet 6

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: Asp816Tyr

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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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery

Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2022-05-05

Variant appearance in text: KIT: D816Y

PubMed Link: 35176137

Variant Present in the following documents:

• bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18
• bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 12

View BVdb publication page

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Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial.

Nature Medicine

DeAngelo, Daniel J DJ; Radia, Deepti H DH; George, Tracy I TI; Robinson, William A WA; Quiery, Albert T AT; Drummond, Mark W MW; Bose, Prithviraj P; Hexner, Elizabeth O EO; Winton, Elliott F EF; Horny, Hans-Peter HP; Tugnait, Meera M; Schmidt-Kittler, Oleg O; Evans, Erica K EK; Lin, Hui-Min HM; Mar, Brenton G BG; Verstovsek, Srdan S; Deininger, Michael W MW; Gotlib, Jason J

Publication Date: 2021-12-06

Variant appearance in text: KIT: Asp816Tyr

PubMed Link: 34873347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Focal disruption of DNA methylation dynamics at enhancers in IDH-mutant AML cells.

Leukemia

Wilson, Elisabeth R ER; Helton, Nichole M NM; Heath, Sharon E SE; Fulton, Robert S RS; Payton, Jacqueline E JE; Welch, John S JS; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Link, Daniel C DC; Miller, Christopher A CA; Ley, Timothy J TJ; Spencer, David H DH

Publication Date: 2022-04

Variant appearance in text: KIT: D816Y

PubMed Link: 34873300

Variant Present in the following documents:

• 41375_2021_1476_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

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

Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ

Publication Date: 2021-12-07

Variant appearance in text: KIT: D816Y

PubMed Link: 34845035

Variant Present in the following documents:

• pnas.2116427118.sd01.xlsx, sheet 1
• pnas.2116427118.sd02.xlsx, sheet 1
• pnas.2116427118.sd13.xlsx, sheet 1

View BVdb publication page

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Immunosuppression and outcomes in adult patients with de novo acute myeloid leukemia with normal karyotypes.

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

Ferraro, Francesca F; Miller, Christopher A CA; Christensen, Keegan A KA; Helton, Nichole M NM; O'Laughlin, Margaret M; Fronick, Catrina C CC; Fulton, Robert S RS; Kohlschmidt, Jessica J; Eisfeld, Ann-Kathrin AK; Bloomfield, Clara D CD; Ramakrishnan, Sai Mukund SM; Day, Ryan B RB; Wartman, Lukas D LD; Uy, Geoffrey L GL; Welch, John S JS; Christopher, Matthew J MJ; Heath, Sharon E SE; Baty, Jack D JD; Schuelke, Matthew J MJ; Payton, Jacqueline E JE; Spencer, David H DH; Rettig, Michael P MP; Link, Daniel C DC; Walter, Matthew J MJ; Westervelt, Peter P; DiPersio, John F JF; Ley, Timothy J TJ

Publication Date: 2021-12-07

Variant appearance in text: KIT: D816Y

PubMed Link: 34845035

Variant Present in the following documents:

• pnas.2116427118.sd01.xlsx, sheet 1
• pnas.2116427118.sd13.xlsx, sheet 1
• pnas.2116427118.sd02.xlsx, sheet 1

View BVdb publication page

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Precision Medicine in Systemic Mastocytosis.

Medicina (Kaunas, Lithuania)

Nicolosi, Maura M; Patriarca, Andrea A; Andorno, Annalisa A; Mahmoud, Abdurraouf Mokhtar AM; Gennari, Alessandra A; Boldorini, Renzo R; Gaidano, Gianluca G; Crisà, Elena E

Publication Date: 2021-10-20

Variant appearance in text: KIT: D816Y

PubMed Link: 34833353

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pediatric Mastocytosis: An Update.

Mediterranean Journal Of Hematology And Infectious Diseases

Giona, Fiorina F

Publication Date: 2021

Variant appearance in text: KIT: D816Y

PubMed Link: 34804443

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systemic Mastocytosis: Multidisciplinary Approach.

Mediterranean Journal Of Hematology And Infectious Diseases

Zanotti, Roberta R; Tanasi, Ilaria I; Crosera, Lara L; Bonifacio, Massimiliano M; Schena, Donatella D; Orsolini, Giovanni G; Mastropaolo, Francesca F; Tebaldi, Morena M; Olivieri, Elisa E; Bonadonna, Patrizia P

Publication Date: 2021

Variant appearance in text: KIT: D816Y

PubMed Link: 34804442

Variant Present in the following documents:

• Main text
• mjhid-13-1-e2021068.pdf

View BVdb publication page

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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: D816Y

PubMed Link: 34778799

Variant Present in the following documents:

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

View BVdb publication page

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DNA methylation profile in patients with indolent systemic mastocytosis.

Clinical And Translational Allergy

Górska, Aleksandra A; Jabłońska, Ewa E; Reszka, Edyta E; Niedoszytko, Marek M; Lange, Magdalena M; Gruchała-Niedoszytko, Marta M; Jarczak, Justyna J; Strapagiel, Dominik D; Górska-Ponikowska, Magdalena M; Bastian, Paulina P; Pelikant-Małecka, Iwona I; Kalinowski, Leszek L; Nedoszytko, Bogusław B

Publication Date: 2021-11

Variant appearance in text: KIT: D816Y

PubMed Link: 34754417

Variant Present in the following documents:

• Main text

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: D816Y

PubMed Link: 34729266

Variant Present in the following documents:

• Main text
• cureus-0013-00000018385.pdf

View BVdb publication page

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Molecular Targeted Therapy and Immunotherapy for Myelodysplastic Syndrome.

International Journal Of Molecular Sciences

Lee, Paul P; Yim, Rita R; Yung, Yammy Y; Chu, Hiu-Tung HT; Yip, Pui-Kwan PK; Gill, Harinder H

Publication Date: 2021-09-23

Variant appearance in text: KIT: D816Y

PubMed Link: 34638574

Variant Present in the following documents:

• Main text
• ijms-22-10232.pdf

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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: D816Y

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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Molecular Pathology and Targeted Therapies for Personalized Management of Central Nervous System Germinoma.

Journal Of Personalized Medicine

Ilcus, Cristina C; Silaghi, Horatiu H; Georgescu, Carmen Emanuela CE; Georgiu, Carmen C; Ciurea, Anca Ileana AI; Nicoara, Simona Delia SD; Silaghi, Cristina Alina CA

Publication Date: 2021-07-14

Variant appearance in text: KIT: 2446G>T; Asp816Tyr

PubMed Link: 34357128

Variant Present in the following documents:

• Main text
• jpm-11-00661.pdf

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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: D816Y

PubMed Link: 34276915

Variant Present in the following documents:

• Main text
• mjhid-13-1-e2021046.pdf

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: KIT: D816Y

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 28

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New Insights into the Pathogenesis of Systemic Mastocytosis.

International Journal Of Molecular Sciences

Li, Zhixiong Z

Publication Date: 2021-05-05

Variant appearance in text: KIT: D816Y

PubMed Link: 34063170

Variant Present in the following documents:

• Main text
• ijms-22-04900.pdf

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Bimodal expression of potential drug target CLL-1 (CLEC12A) on CD34+ blasts of AML patients.

European Journal Of Haematology

Ngai, Lok Lam LL; Ma, Connie Y CY; Maguire, Orla O; Do, An D AD; Robert, Alberto A; Logan, Aaron C AC; Griffiths, Elizabeth A EA; Nemeth, Michael J MJ; Green, Cherie C; Pourmohamad, Tony T; van Kuijk, Bo J BJ; Snel, Alexander N AN; Kwidama, Zinia W ZW; Venniker-Punt, Bianca B; Cooper, James J; Manz, Markus G MG; Gjertsen, Bjørn T BT; Smit, Linda L; Ossenkoppele, Gert J GJ; Janssen, Jeroen J W M JJWM; Cloos, Jacqueline J; Sumiyoshi, Teiko T

Publication Date: 2021-09

Variant appearance in text: KIT: D816Y

PubMed Link: 34053123

Variant Present in the following documents:

• Main text

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A clinical transcriptome approach to patient stratification and therapy selection in acute myeloid leukemia.

Nature Communications

Docking, T Roderick TR; Parker, Jeremy D K JDK; Jädersten, Martin M; Duns, Gerben G; Chang, Linda L; Jiang, Jihong J; Pilsworth, Jessica A JA; Swanson, Lucas A LA; Chan, Simon K SK; Chiu, Readman R; Nip, Ka Ming KM; Mar, Samantha S; Mo, Angela A; Wang, Xuan X; Martinez-Høyer, Sergio S; Stubbins, Ryan J RJ; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard A RA; Jones, Steven J M SJM; Birol, İnanç İ; Marra, Marco A MA; Hogge, Donna D; Karsan, Aly A

Publication Date: 2021-04-30

Variant appearance in text: KIT: Asp816Tyr

PubMed Link: 33931648

Variant Present in the following documents:

• Main text

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Bone Marrow Mastocytosis: A Diagnostic Challenge.

Journal Of Clinical Medicine

Zanotti, Roberta R; Tanasi, Ilaria I; Bernardelli, Andrea A; Orsolini, Giovanni G; Bonadonna, Patrizia P

Publication Date: 2021-04-01

Variant appearance in text: KIT: D816Y

PubMed Link: 33915965

Variant Present in the following documents:

• Main text

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: KIT: D816Y

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 5
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

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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: D816Y

PubMed Link: 33806685

Variant Present in the following documents:

• Main text

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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: D816Y

PubMed Link: 33795645

Variant Present in the following documents:

• Main text
• 41408_2021_Article_461.pdf

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Protein tyrosine phosphatase receptor type E (PTPRE) regulates the activation of wild-type KIT and KIT mutants differently.

Biochemistry And Biophysics Reports

Zhang, Shaoting S; Zhang, Liangying L; Jiang, Zongying Z; Guo, Yue Y; Zhao, Hui H; Sun, Jianmin J

Publication Date: 2021-07

Variant appearance in text: KIT: D816Y

PubMed Link: 33732906

Variant Present in the following documents:

• Main text
• main.pdf

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