KIT c.793G>A ;(p.G265S)

Variant ID: 4-55569926-G-A

NM_000222.2(KIT):c.793G>A;(p.G265S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: KIT: G265S
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: KIT: 793G>A; Gly265Ser
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s008.xlsx, sheet 1
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Metastatic Melanoma Patient-Derived Xenografts Respond to MDM2 Inhibition as a Single Agent or in Combination with BRAF/MEK Inhibition.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Shattuck-Brandt, Rebecca L RL; Chen, Sheau-Chiann SC; Murray, Emily E; Johnson, Christopher Andrew CA; Crandall, Holly H; O'Neal, Jamye F JF; Al-Rohil, Rami Nayef RN; Nebhan, Caroline A CA; Bharti, Vijaya V; Dahlman, Kimberly B KB; Ayers, Gregory D GD; Yan, Chi C; Kelley, Mark C MC; Kauffmann, Rondi M RM; Hooks, Mary M; Grau, Ana A; Johnson, Douglas B DB; Vilgelm, Anna E AE; Richmond, Ann A
Publication Date: 2020-07-15

Variant appearance in text: KIT: G265S
PubMed Link: 32234759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KIT: G265S
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
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: 793G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: KIT: 793G>A; G265S
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page