KIT c.2540C>T ;(p.T847M)

Variant ID: 4-55602719-C-T

NM_000222.2(KIT):c.2540C>T;(p.T847M)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: KIT: T847M
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: 2540C>T
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KIT: T847M; rs752695117
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: T847M
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 and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: KIT: 2540C>T; T847M
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: KIT: T847M
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11

Variant appearance in text: KIT: 2540C>T; Thr847Met
PubMed Link: 34841677
Variant Present in the following documents:
  • CTM2-11-e567-s004.xlsx, sheet 5
View BVdb publication page



Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology
Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021

Variant appearance in text: KIT: 2540C>T; T847M
PubMed Link: 34712610
Variant Present in the following documents:
  • DataSheet_1.xls, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: KIT: T847M
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: 2540C>T; T847M
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Response to Imatinib in a Patient with Double-mutant KIT Metastatic Penile Melanoma.

Acta Dermato-Venereologica
Beaudoux, Olivia O; Ehret, Marine M; Criquet, Emilie E; Franceschi, Joséphine J; Durlach, Anne A; Oudart, Jean-Bapstiste JB; Visseaux, Laetitia L; Grange, Florent F
Publication Date: 2021-04-12

Variant appearance in text: KIT: 2540C>T; T847M
PubMed Link: 33283249
Variant Present in the following documents:
  • Main text
  • ActaDV-101-4-781.pdf
View BVdb publication page



Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.

Clinical And Translational Medicine
Li, Ziyang Z; Huang, Wensou W; Yin, Jiani C JC; Na, Chenglong C; Wu, Xue X; Shao, Yang Y; Ding, Huaxin H; Li, Jinming J
Publication Date: 2020-11

Variant appearance in text: KIT: 2540C>T; T847M; rs752695117
PubMed Link: 33252848
Variant Present in the following documents:
  • CTM2-10-e222-s003.xlsx, sheet 1
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: T847M
PubMed Link: 33106165
Variant Present in the following documents:
  • 13073_2020_787_MOESM1_ESM.xlsx, sheet 9
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: T847M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: KIT: T847M
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: rs752695117
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KIT: 2540C>T; T847M
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: T847M
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nature Communications
Nagata, Yasunobu Y; Makishima, Hideki H; Kerr, Cassandra M CM; Przychodzen, Bartlomiej P BP; Aly, Mai M; Goyal, Abhinav A; Awada, Hassan H; Asad, Mohammad Fahad MF; Kuzmanovic, Teodora T; Suzuki, Hiromichi H; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Chiba, Kenichi K; Tanaka, Hiroko H; Shiraishi, Yuichi Y; Miyano, Satoru S; Mukherjee, Sudipto S; LaFramboise, Thomas T; Nazha, Aziz A; Sekeres, Mikkael A MA; Radivoyevitch, Tomas T; Haferlach, Torsten T; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP
Publication Date: 2019-11-26

Variant appearance in text: KIT: T847M
PubMed Link: 31772163
Variant Present in the following documents:
  • 41467_2019_13001_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: KIT: 2540C>T; Thr847Met; rs752695117
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



NF1 mutations in conjunctival melanoma.

British Journal Of Cancer
Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG
Publication Date: 2018-05

Variant appearance in text: KIT: 2540C>T; Thr847Met
PubMed Link: 29559732
Variant Present in the following documents:
  • 41416_2018_46_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology
Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M
Publication Date: 2017-07

Variant appearance in text: KIT: 2540C>T; Thr847Met
PubMed Link: 28497333
Variant Present in the following documents:
  • Main text
  • 11060_2017_Article_2459.pdf
View BVdb publication page