KIT c.1671G>C ;(p.W557C)

Variant ID: 4-55593605-G-C

NM_000222.2(KIT):c.1671G>C;(p.W557C)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


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: W557C
PubMed Link: 36890498
Variant Present in the following documents:
  • Main text
  • 12885_2023_Article_10684.pdf
View BVdb publication page



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: W557C
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



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: 1671G>C; Trp557Cys
PubMed Link: 34357128
Variant Present in the following documents:
  • Main text
  • jpm-11-00661.pdf
View BVdb publication page



RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Scientific Reports
Kim, TaeHyung T; Moon, Joon Ho JH; Ahn, Jae-Sook JS; Ahn, Seo-Yeon SY; Jung, Sung-Hoon SH; Yang, Deok-Hwan DH; Lee, Je-Jung JJ; Shin, Myung-Geun MG; Choi, Seung Hyun SH; Lee, Ja-Yeon JY; Tyndel, Marc S MS; Lee, Hui Young HY; Kim, Kyoung Ha KH; Cai, Yu Y; Lee, Yoo Jin YJ; Sohn, Sang Kyun SK; Min, Yoo Hong YH; Cheong, June-Won JW; Kim, Hyeoung-Joon HJ; Zhang, Zhaolei Z; Kim, Dennis Dong Hwan DDH
Publication Date: 2020-11-18

Variant appearance in text: KIT: W557C
PubMed Link: 33208771
Variant Present in the following documents:
  • 41598_2020_76933_MOESM8_ESM.xlsx, sheet 4
View BVdb publication page



Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine
Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ
Publication Date: 2020-10-27

Variant appearance in text: KIT: W557C
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



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: rs1057520033
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: W557C
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: KIT: W557C
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: W557C
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



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: W557C
PubMed Link: 32082541
Variant Present in the following documents:
  • Main text
  • 13578_2020_Article_377.pdf
View BVdb publication page



Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon
Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S
Publication Date: 2018-12

Variant appearance in text: KIT: W557C
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: KIT: W557C
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Integrated Molecular Characterization of Testicular Germ Cell Tumors.

Cell Reports
Shen, Hui H; Shih, Juliann J; Hollern, Daniel P DP; Wang, Linghua L; Bowlby, Reanne R; Tickoo, Satish K SK; Thorsson, Vésteinn V; Mungall, Andrew J AJ; Newton, Yulia Y; Hegde, Apurva M AM; Armenia, Joshua J; Sánchez-Vega, Francisco F; Pluta, John J; Pyle, Louise C LC; Mehra, Rohit R; Reuter, Victor E VE; Godoy, Guilherme G; Jones, Jeffrey J; Shelley, Carl S CS; Feldman, Darren R DR; Vidal, Daniel O DO; Lessel, Davor D; Kulis, Tomislav T; Cárcano, Flavio M FM; Leraas, Kristen M KM; Lichtenberg, Tara M TM; Brooks, Denise D; Cherniack, Andrew D AD; Cho, Juok J; Heiman, David I DI; Kasaian, Katayoon K; Liu, Minwei M; Noble, Michael S MS; Xi, Liu L; Zhang, Hailei H; Zhou, Wanding W; ZenKlusen, Jean C JC; Hutter, Carolyn M CM; Felau, Ina I; Zhang, Jiashan J; Schultz, Nikolaus N; Getz, Gad G; Meyerson, Matthew M; Stuart, Joshua M JM; , ; Akbani, Rehan R; Wheeler, David A DA; Laird, Peter W PW; Nathanson, Katherine L KL; Cortessis, Victoria K VK; Hoadley, Katherine A KA
Publication Date: 2018-06-12

Variant appearance in text: KIT: W557C
PubMed Link: 29898407
Variant Present in the following documents:
  • NIHMS977848-supplement-2.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: KIT: Trp557Cys
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: KIT: W557C
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Efficacy and safety of nilotinib in patients with KIT-mutated metastatic or inoperable melanoma: final results from the global, single-arm, phase II TEAM trial.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Guo, J J; Carvajal, R D RD; Dummer, R R; Hauschild, A A; Daud, A A; Bastian, B C BC; Markovic, S N SN; Queirolo, P P; Arance, A A; Berking, C C; Camargo, V V; Herchenhorn, D D; Petrella, T M TM; Schadendorf, D D; Sharfman, W W; Testori, A A; Novick, S S; Hertle, S S; Nourry, C C; Chen, Q Q; Hodi, F S FS
Publication Date: 2017-06-01

Variant appearance in text: KIT: W557C
PubMed Link: 28327988
Variant Present in the following documents:
  • Main text
  • mdx079.pdf
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: KIT: 1671G>C; W557C
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Are two better than one? A novel double-mutant KIT in GIST that responds to Imatinib.

Molecular Oncology
Conca, Elena E; Miranda, Claudia C; Dal Col, Valentina V; Fumagalli, Elena E; Pelosi, Giuseppe G; Mazzoni, Mara M; Fermeglia, Maurizio M; Laurini, Erik E; Pierotti, Marco A MA; Pilotti, Silvana S; Greco, Angela A; Pricl, Sabrina S; Tamborini, Elena E
Publication Date: 2013-08

Variant appearance in text: KIT: W557C
PubMed Link: 23567324
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: W557C
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page