KIT c.1727T>C ;(p.L576P)

Variant ID: 4-55593661-T-C

NM_000222.2(KIT):c.1727T>C;(p.L576P)

This variant was identified in 365 publications

View GRCh38 version.




Publications:


Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications
González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR
Publication Date: 2023-06-12

Variant appearance in text: KIT: L576P
PubMed Link: 37308482
Variant Present in the following documents:
  • 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Synthesis and Development of Highly Selective Pyrrolo[2,3-d]pyrimidine CSF1R Inhibitors Targeting the Autoinhibited Form.

Journal Of Medicinal Chemistry
Aarhus, Thomas Ihle TI; Bjørnstad, Frithjof F; Wolowczyk, Camilla C; Larsen, Kristin Uhlving KU; Rognstad, Line L; Leithaug, Trygve T; Unger, Anke A; Habenberger, Peter P; Wolf, Alexander A; Bjørkøy, Geir G; Pridans, Clare C; Eickhoff, Jan J; Klebl, Bert B; Hoff, Bård H BH; Sundby, Eirik E
Publication Date: 2023-05-16

Variant appearance in text: KIT: L576P
PubMed Link: 37191268
Variant Present in the following documents:
  • jm3c00428_si_001.pdf
View BVdb publication page



Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Molecular Diagnosis & Therapy
Fitzgerald, Sandra S; Blenkiron, Cherie C; Stephens, Rosalie R; Mathy, Jon A JA; Somers-Edgar, Tiffany T; Rolfe, Gill G; Martin, Richard R; Jackson, Christopher C; Eccles, Michael M; Robb, Tamsin T; Rodger, Euan E; Lawrence, Ben B; Guilford, Parry P; Lasham, Annette A; Print, Cristin G CG
Publication Date: 2023-04-26

Variant appearance in text: KIT: 1727T>C; L576P
PubMed Link: 37099071
Variant Present in the following documents:
  • Main text
  • 40291_2023_651_MOESM15_ESM.pdf
  • 40291_2023_Article_651.pdf
  • 40291_2023_651_MOESM1_ESM.xlsx, sheet 2
  • 40291_2023_651_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry
Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2023-04-07

Variant appearance in text: KIT: L576P
PubMed Link: 37026591
Variant Present in the following documents:
  • jm3c00155_si_002.xlsx, sheet 2
View BVdb publication page



Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology
Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM
Publication Date: 2023

Variant appearance in text: KIT: L576P
PubMed Link: 37007070
Variant Present in the following documents:
  • Main text
  • fonc-13-1133363.pdf
View BVdb publication page



Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology
Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S
Publication Date: 2023-03-21

Variant appearance in text: KIT: L576P
PubMed Link: 36944371
Variant Present in the following documents:
  • cb2c00877_si_004.xlsx, sheet 1
View BVdb publication page



Chinese expert consensus on the diagnosis and treatment of thymic epithelial tumors.

Thoracic Cancer
Xu, Chunwei C; Zhang, Yongchang Y; Wang, Wenxian W; Wang, Qian Q; Li, Ziming Z; Song, Zhengbo Z; Wang, Jiandong J; Yu, Jinpu J; Liu, Jingjing J; Zhang, Shirong S; Cai, Xiuyu X; Wu, Ming M; Zhan, Ping P; Liu, Hongbing H; Lv, Tangfeng T; Miao, Liyun L; Min, Lingfeng L; Li, Jiancheng J; Liu, Baogang B; Yuan, Jingping J; Jiang, Zhansheng Z; Lin, Gen G; Chen, Xiaohui X; Pu, Xingxiang X; Rao, Chuangzhou C; Lv, Dongqing D; Yu, Zongyang Z; Li, Xiaoyan X; Tang, Chuanhao C; Zhou, Chengzhi C; Zhang, Junping J; Guo, Hui H; Chu, Qian Q; Meng, Rui R; Liu, Xuewen X; Wu, Jingxun J; Hu, Xiao X; Fang, Min M; Zhou, Jin J; Zhu, Zhengfei Z; Chen, Xiaofeng X; Pan, Weiwei W; Pang, Fei F; Zhou, Yuxiang Y; Jian, Qijie Q; Wang, Kai K; Wang, Liping L; Zhu, Youcai Y; Yang, Guocai G; Lin, Xinqing X; Cai, Jing J; Liang, Lijun L; Feng, Huijing H; Wang, Lin L; Du, Yingying Y; Yao, Wang W; Shi, Xuefei X; Niu, Xiaomin X; Yuan, Dongmei D; Yao, Yanwen Y; Huang, Jianhui J; Zhang, Yinbin Y; Sun, Pingli P; Wang, Hong H; Ye, Mingxiang M; Wang, Dong D; Wang, Zhaofeng Z; Hao, Yue Y; Wang, Zhen Z; Wan, Bing B; Lv, Donglai D; Yu, Genhua G; Li, Anna A; Kang, Jin J; Zhang, Jiatao J; Zhang, Chao C; Chen, Huafei H; Shi, Lin L; Ye, Leiguang L; Wang, Gaoming G; Wang, Yina Y; Gao, Feng F; Zhou, Wei W; Hu, Chunxiu C; Wei, Jianguo J; Li, Bihui B; Li, Zhongwu Z; Li, Yuan Y; Liu, Zhefeng Z; Yang, Nong N; Wu, Lin L; Wang, Qiming Q; Huang, Wenbin W; Hong, Zhuan Z; Wang, Guansong G; Fang, Meiyu M; Fang, Yong Y; Zhu, Xixu X; Du, Kaiqi K; Ji, Jiansong J; Shen, Yi Y; Zhang, Yiping Y; Ma, Shenglin S; Song, Yong Y; Lu, Yuanzhi Y; Liu, Anwen A; Fang, Wenfeng W; Zhong, Wenzhao W
Publication Date: 2023-03-16

Variant appearance in text: KIT: L576P
PubMed Link: 36924056
Variant Present in the following documents:
  • Main text
  • TCA-14-1102.pdf
View BVdb publication page



Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.

International Journal Of Molecular Sciences
Vanni, Irene I; Pastorino, Lorenza L; Tanda, Enrica Teresa ET; Andreotti, Virginia V; Dalmasso, Bruna B; Solari, Nicola N; Mascherini, Matteo M; Cabiddu, Francesco F; Guadagno, Antonio A; Coco, Simona S; Allavena, Eleonora E; Bruno, William W; Pietra, Gabriella G; Croce, Michela M; Gangemi, Rosaria R; Piana, Michele M; Zoppoli, Gabriele G; Ferrando, Lorenzo L; Spagnolo, Francesco F; Queirolo, Paola P; Ghiorzo, Paola P
Publication Date: 2023-02-21

Variant appearance in text: KIT: Leu576Pro
PubMed Link: 36901733
Variant Present in the following documents:
  • Main text
  • ijms-24-04302.pdf
View BVdb publication page



Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One
Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T
Publication Date: 2023

Variant appearance in text: KIT: L576P
PubMed Link: 36897912
Variant Present in the following documents:
  • pone.0282166.s009.xlsx, sheet 1
View BVdb publication page



Clinicopathological and mutational characteristics of primary double mutant gastrointestinal stromal tumor: a single center study with review of the literature.

Bmc Cancer
Yan, Jiaqi J; He, Xin X; Shen, Chaoyong C; Zou, Yan Y; Chen, Huijiao H; Tang, Yuan Y
Publication Date: 2023-03-08

Variant appearance in text: KIT: L576P
PubMed Link: 36890498
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10684.pdf
View BVdb publication page



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: L576P
PubMed Link: 36614290
Variant Present in the following documents:
  • ijms-24-00830.pdf
View BVdb publication page



Escalation of radiotherapy dose in large locally advanced drug-resistant gastrointestinal stromal tumors by multi-shell simultaneous integrated boost intensity-modulated technique: a feasibility study.

Radiation Oncology (London, England)
Cui, Haixia H; Li, Ying Y; Huang, Wei W; Lu, Wenli W; Yi, Xin X
Publication Date: 2022-12-28

Variant appearance in text: KIT: L576P
PubMed Link: 36578008
Variant Present in the following documents:
  • Main text
  • 13014_2022_Article_2179.pdf
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: KIT: L576P
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM20_ESM.xlsx, sheet 3
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
  • 41467_2022_Article_34746.pdf
View BVdb publication page



VIP152 is a selective CDK9 inhibitor with pre-clinical in vitro and in vivo efficacy in chronic lymphocytic leukemia.

Leukemia
Sher, Steven S; Whipp, Ethan E; Walker, Janek J; Zhang, Pu P; Beaver, Larry L; Williams, Katie K; Orwick, Shelley S; Ravikrishnan, Janani J; Walker, Brandi B; Perry, Elizabeth E; Gregory, Charles C; Purcell, Matthew M; Pan, Alexander A; Yan, Pearlly P; Alinari, Lapo L; Johnson, Amy J AJ; Frigault, Melanie M MM; Greer, Joy M JM; Hamdy, Ahmed A; Izumi, Raquel R; Mo, Xiaokui X; Sampath, Deepa D; Woyach, Jennifer J; Blachly, James J; Byrd, John C JC; Lapalombella, Rosa R
Publication Date: 2022-11-14

Variant appearance in text: KIT: L576P
PubMed Link: 36376377
Variant Present in the following documents:
  • 41375_2022_1758_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Vulvar Malignant Melanoma: A Narrative Review.

Cancers
Falcicchio, Giovanni G; Vinci, Lorenzo L; Cicinelli, Ettore E; Loizzi, Vera V; Arezzo, Francesca F; Silvestris, Erica E; Resta, Leonardo L; Serio, Gabriella G; Cazzato, Gerardo G; Mastronardi, Marialuigia M; Mongelli, Michele M; Marinaccio, Marco M; Cormio, Gennaro G
Publication Date: 2022-10-25

Variant appearance in text: KIT: L576P
PubMed Link: 36358637
Variant Present in the following documents:
  • Main text
  • cancers-14-05217.pdf
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: KIT: L576P
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s006.xlsx, sheet 2
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Clinical utility of comprehensive genomic profiling tests for advanced or metastatic solid tumor in clinical practice.

Cancer Science
Ida, Hanae H; Koyama, Takafumi T; Mizuno, Takaaki T; Sunami, Kuniko K; Kubo, Takashi T; Sudo, Kazuki K; Tao, Kayoko K; Hirata, Makoto M; Yonemori, Kan K; Kato, Ken K; Okusaka, Takuji T; Ohe, Yuichiro Y; Matsui, Yoshiyuki Y; Yamazaki, Naoya N; Ogawa, Chitose C; Kawai, Akira A; Narita, Yoshitaka Y; Esaki, Minoru M; Yamamoto, Noboru N
Publication Date: 2022-09-14

Variant appearance in text: KIT: L576P
PubMed Link: 36106376
Variant Present in the following documents:
  • Main text
  • CAS-113-4300.pdf
View BVdb publication page



Designing Novel BCR-ABL Inhibitors for Chronic Myeloid Leukemia with Improved Cardiac Safety.

Journal Of Medicinal Chemistry
Pandrala, Mallesh M; Bruyneel, Arne Antoon N AAN; Hnatiuk, Anna P AP; Mercola, Mark M; Malhotra, Sanjay V SV
Publication Date: 2022-08-25

Variant appearance in text: KIT: L576P
PubMed Link: 35944901
Variant Present in the following documents:
  • jm1c01853_si_003.xlsx, sheet 1
View BVdb publication page



Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology
Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M
Publication Date: 2022

Variant appearance in text: KIT: 1727T>C; L576P
PubMed Link: 35936718
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



KIT-Associated Familial GIST Syndrome: Response to Tyrosine Kinase Inhibitors and Implications for Risk Management.

The Oncologist
Brodey, Alexandra A; Kounnis, Valentinos V; Hawkes, Lara L; Jones, Robin L RL; McVeigh, Terri P TP; Cojocaru, Elena E
Publication Date: 2022-08-05

Variant appearance in text: KIT: L576P
PubMed Link: 35791894
Variant Present in the following documents:
  • oyac120.pdf
View BVdb publication page



Reengineering Ponatinib to Minimize Cardiovascular Toxicity.

Cancer Research
Hnatiuk, Anna P AP; Bruyneel, Arne A N AAN; Tailor, Dhanir D; Pandrala, Mallesh M; Dheeraj, Arpit A; Li, Wenqi W; Serrano, Ricardo R; Feyen, Dries A M DAM; Vu, Michelle M MM; Amatya, Prashila P; Gupta, Saloni S; Nakauchi, Yusuke Y; Morgado, Isabel I; Wiebking, Volker V; Liao, Ronglih R; Porteus, Matthew H MH; Majeti, Ravindra R; Malhotra, Sanjay V SV; Mercola, Mark M
Publication Date: 2022-08-03

Variant appearance in text: KIT: L576P
PubMed Link: 35763671
Variant Present in the following documents:
  • can-21-3652_supplementary_table_s1_suppst1.xls, sheet 2
View BVdb publication page



Genomic Profiling of Bronchoalveolar Lavage Fluid in Lung Cancer.

Cancer Research
Nair, Viswam S VS; Hui, Angela Bik-Yu AB; Chabon, Jacob J JJ; Esfahani, Mohammad S MS; Stehr, Henning H; Nabet, Barzin Y BY; Zhou, Li L; Chaudhuri, Aadel A AA; Benson, Jalen J; Ayers, Kelsey K; Bedi, Harmeet H; Ramsey, Meghan M; Van Wert, Ryan R; Antic, Sanja S; Lui, Natalie N; Backhus, Leah L; Berry, Mark M; Sung, Arthur W AW; Massion, Pierre P PP; Shrager, Joseph B JB; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2022-08-16

Variant appearance in text: KIT: L576P
PubMed Link: 35748739
Variant Present in the following documents:
  • can-22-0554_supplementary_data_suppst1-st9.xlsx, sheet 5
View BVdb publication page



Heterogeneity in Melanoma.

Cancers
Ng, Mei Fong MF; Simmons, Jacinta L JL; Boyle, Glen M GM
Publication Date: 2022-06-20

Variant appearance in text: KIT: L576P
PubMed Link: 35740696
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Genetics of Early-Stage Melanoma in a Veteran Population.

Frontiers In Oncology
Cheung, Kevin K; Bossler, Aaron D AD; Mott, Sarah L SL; Zeisler, Megan M; McKillip, Julie J; Zakharia, Yousef Y; Swick, Brian L BL; Powers, Jennifer G JG
Publication Date: 2022

Variant appearance in text: KIT: L576P
PubMed Link: 35712493
Variant Present in the following documents:
  • Main text
  • fonc-12-887768.pdf
View BVdb publication page



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: L576P
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: KIT: L576P
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Improved Binding Affinity and Pharmacokinetics Enable Sustained Degradation of BCL6 In Vivo.

Journal Of Medicinal Chemistry
Huckvale, Rosemary R; Harnden, Alice C AC; Cheung, Kwai-Ming J KJ; Pierrat, Olivier A OA; Talbot, Rachel R; Box, Gary M GM; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Hallsworth, Albert E AE; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; Hayes, Angela A; Gunnell, Emma A EA; Brennan, Alfie A; Davis, Owen A OA; Johnson, Louise D LD; de Klerk, Selby S; McAndrew, Craig C; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S
Publication Date: 2022-06-23

Variant appearance in text: KIT: L576P
PubMed Link: 35653645
Variant Present in the following documents:
  • jm1c02175_si_002.xlsx, sheet 2
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: KIT: 1727T>C; L576P
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



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: L576P
PubMed Link: 35563085
Variant Present in the following documents:
  • ijms-23-04694.pdf
View BVdb publication page



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: L576P
PubMed Link: 35547262
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: KIT: L576P
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



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: L576P
PubMed Link: 35294533
Variant Present in the following documents:
  • ccr-21-3344_supplementary_data_suppsd1.xlsx, sheet 7
View BVdb publication page



BRAF, C-KIT, and NRAS mutations correlated with different clinicopathological features: an analysis of 691 melanoma patients from a single center.

Annals Of Translational Medicine
Ren, Min M; Zhang, Jing J; Kong, Yunyi Y; Bai, Qianming Q; Qi, Peng P; Zhang, Ling L; Wang, Qian Q; Zhou, Xiaoyan X; Chen, Yong Y; Zhu, Xiaoli X
Publication Date: 2022-01

Variant appearance in text: KIT: L576P
PubMed Link: 35282092
Variant Present in the following documents:
  • Main text
  • atm-10-02-31.pdf
View BVdb publication page



Impact of the KIT/PDGFRA genotype on prognosis in imatinib-naïve Japanese patients with gastrointestinal stromal tumor.

Annals Of Gastroenterological Surgery
Cho, Haruhiko H; Nishida, Toshirou T; Takahashi, Tsuyoshi T; Masuzawa, Toru T; Hirota, Seiichi S
Publication Date: 2022-03

Variant appearance in text: KIT: L576P
PubMed Link: 35261949
Variant Present in the following documents:
  • Main text
  • AGS3-6-241.pdf
View BVdb publication page



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: L576P
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
  • PCMR-35-369-s003.xlsx, sheet 12
View BVdb publication page



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: Leu576Pro
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: KIT: L576P
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2
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Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.

Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
Publication Date: 2022-02-03

Variant appearance in text: KIT: L576P
PubMed Link: 35159047
Variant Present in the following documents:
  • Main text
  • cancers-14-00780.pdf
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Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.

Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
Publication Date: 2022-02-03

Variant appearance in text: KIT: L576P
PubMed Link: 35159047
Variant Present in the following documents:
  • Main text
  • cancers-14-00780.pdf
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Mutational profiling of melanomas in patients from the southeast coast of China.

Translational Cancer Research
Zheng, Ai-Wen AW; Jia, Dong-Dong DD; Zhou, Cheng-Cheng CC; Li, Tao T
Publication Date: 2020-08

Variant appearance in text: KIT: L576P
PubMed Link: 35117841
Variant Present in the following documents:
  • Main text
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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: L576P
PubMed Link: 35091442
Variant Present in the following documents:
  • ccr-21-2037_supplementary_data_supp0.pdf
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Anorectal and Genital Mucosal Melanoma: Diagnostic Challenges, Current Knowledge and Therapeutic Opportunities of Rare Melanomas.

Biomedicines
Ottaviano, Margaret M; Giunta, Emilio Francesco EF; Marandino, Laura L; Tortora, Marianna M; Attademo, Laura L; Bosso, Davide D; Cardalesi, Cinzia C; Fabbrocini, Antonietta A; Rosanova, Mario M; Silvestri, Antonia A; Montella, Liliana L; Tammaro, Pasquale P; Marra, Ester E; Trojaniello, Claudia C; Vitale, Maria Grazia MG; Simeone, Ester E; Troiani, Teresa T; Daniele, Bruno B; Ascierto, Paolo Antonio PA
Publication Date: 2022-01-11

Variant appearance in text: KIT: L576P
PubMed Link: 35052829
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00150.pdf
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Anorectal and Genital Mucosal Melanoma: Diagnostic Challenges, Current Knowledge and Therapeutic Opportunities of Rare Melanomas.

Biomedicines
Ottaviano, Margaret M; Giunta, Emilio Francesco EF; Marandino, Laura L; Tortora, Marianna M; Attademo, Laura L; Bosso, Davide D; Cardalesi, Cinzia C; Fabbrocini, Antonietta A; Rosanova, Mario M; Silvestri, Antonia A; Montella, Liliana L; Tammaro, Pasquale P; Marra, Ester E; Trojaniello, Claudia C; Vitale, Maria Grazia MG; Simeone, Ester E; Troiani, Teresa T; Daniele, Bruno B; Ascierto, Paolo Antonio PA
Publication Date: 2022-01-11

Variant appearance in text: KIT: L576P
PubMed Link: 35052829
Variant Present in the following documents:
  • Main text
  • biomedicines-10-00150.pdf
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Molecular Profiling and Novel Therapeutic Strategies for Mucosal Melanoma: A Comprehensive Review.

International Journal Of Molecular Sciences
Indini, Alice A; Roila, Fausto F; Grossi, Francesco F; Massi, Daniela D; Mandalà, Mario M
Publication Date: 2021-12-23

Variant appearance in text: KIT: L576P
PubMed Link: 35008570
Variant Present in the following documents:
  • Main text
  • ijms-23-00147.pdf
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Molecular Profiling and Novel Therapeutic Strategies for Mucosal Melanoma: A Comprehensive Review.

International Journal Of Molecular Sciences
Indini, Alice A; Roila, Fausto F; Grossi, Francesco F; Massi, Daniela D; Mandalà, Mario M
Publication Date: 2021-12-23

Variant appearance in text: KIT: L576P
PubMed Link: 35008570
Variant Present in the following documents:
  • Main text
  • ijms-23-00147.pdf
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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: KIT: L576P
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
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The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: KIT: L576P
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
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Targeted therapy strategies for melanoma brain metastasis.

Neuro-Oncology Advances
Saberian, Chantal C; Sperduto, Paul P; Davies, Michael A MA
Publication Date: 2021-11

Variant appearance in text: KIT: L576P
PubMed Link: 34859235
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  • Main text
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A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: KIT: 1727T>C; L576P
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
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A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: KIT: 1727T>C; L576P
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
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Nicotinamide promotes cardiomyocyte derivation and survival through kinase inhibition in human pluripotent stem cells.

Cell Death & Disease
Meng, Ya Y; Song, Chengcheng C; Ren, Zhili Z; Li, Xiaohong X; Yang, Xiangyu X; Ai, Nana N; Yang, Yang Y; Wang, Dongjin D; Zhan, Meixiao M; Wang, Jiaxian J; Lei, Chon Lok CL; Liu, Weiwei W; Ge, Wei W; Lu, Ligong L; Chen, Guokai G
Publication Date: 2021-11-29

Variant appearance in text: KIT: L576P
PubMed Link: 34845199
Variant Present in the following documents:
  • 41419_2021_4395_MOESM9_ESM.xlsx, sheet 1
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Melanoma Targeted Therapies beyond BRAF-Mutant Melanoma: Potential Druggable Mutations and Novel Treatment Approaches.

Cancers
Khaddour, Karam K; Maahs, Lucas L; Avila-Rodriguez, Ana Maria AM; Maamar, Yazan Y; Samaan, Sami S; Ansstas, George G
Publication Date: 2021-11-22

Variant appearance in text: KIT: L576P
PubMed Link: 34831002
Variant Present in the following documents:
  • Main text
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Individualized Treatment Strategy for Cutaneous Melanoma: Where Are We Now and Where Are We Going?

Frontiers In Oncology
Zeng, Huihua H; Liu, Fen F; Zhou, Hairong H; Zeng, Changchun C
Publication Date: 2021

Variant appearance in text: KIT: L576P
PubMed Link: 34804979
Variant Present in the following documents:
  • Main text
  • fonc-11-775100.pdf
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Sorafenib treatment of metastatic melanoma with c-Kit aberration reduces tumor growth and promotes survival.

Oncology Letters
Takeda, Tomoya T; Tsubaki, Masanobu M; Kato, Natsuki N; Genno, Shuji S; Ichimura, Eri E; Enomoto, Aya A; Imano, Motohiro M; Satou, Takao T; Nishida, Shozo S
Publication Date: 2021-12

Variant appearance in text: KIT: L576P
PubMed Link: 34691254
Variant Present in the following documents:
  • Main text
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