KIT c.2472G>C ;(p.V824=)

Variant ID: 4-55599346-G-C

NM_000222.2(KIT):c.2472G>C;(p.V824=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications
Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY
Publication Date: 2021-10-21

Variant appearance in text: KIT: V824=
PubMed Link: 34675197
Variant Present in the following documents:
  • 41467_2021_Article_26308.pdf
View BVdb publication page



Cross-testing of major molecular markers indicates distinct pathways of tumorigenesis in gastric adenocarcinomas and synchronous gastrointestinal stromal tumors.

Scientific Reports
Kocsmár, Éva É; Kocsmár, Ildikó I; Szalai, Luca L; Lendvai, Gábor G; Szijártó, Attila A; Schaff, Zsuzsa Z; Kiss, András A; Kovalszky, Ilona I; Papp, Gergő G; Lotz, Gábor G
Publication Date: 2020-12-17

Variant appearance in text: KIT: V824V
PubMed Link: 33335133
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_78232.pdf
View BVdb publication page



Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel.

Frontiers In Oncology
Malapelle, Umberto U; Pepe, Francesco F; Pisapia, Pasquale P; Sgariglia, Roberta R; Nacchio, Mariantonia M; De Luca, Caterina C; Lacalamita, Rosanna R; Tommasi, Stefania S; Pinto, Rosamaria R; Palomba, Grazia G; Palmieri, Giuseppe G; Vacirca, Davide D; Barberis, Massimo M; Bottillo, Irene I; Grammatico, Paola P; Grillo, Lucia Rosalba LR; Costa, Valerio V; Smeraglio, Riccardo R; Bruzzese, Dario D; Troncone, Giancarlo G
Publication Date: 2020

Variant appearance in text: KIT: V824V
PubMed Link: 32219061
Variant Present in the following documents:
  • Main text
  • fonc-10-00236.pdf
View BVdb publication page



Multiple gastrointestinal stromal tumors: analysis of clinicopathologic characteristics and prognosis of 20 patients.

Cancer Management And Research
Li, Kai K; Tjhoi, Weh W; Shou, Chunhui C; Yang, Weili W; Zhang, Qing Q; Liu, Xiaosun X; Yu, Jiren J
Publication Date: 2019

Variant appearance in text: KIT: V824V
PubMed Link: 31413638
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detailed overview on the mutations detected by and the sensitivity of the GeneReader NGS sequencing platform.

Data In Brief
Lüsebrink, Jessica J; Pieper, Monika M; Tillmann, Ramona-Liza RL; Brockmann, Michael M; Schildgen, Oliver O; Schildgen, Verena V
Publication Date: 2018-06

Variant appearance in text: KIT: V824V
PubMed Link: 29904702
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: V824V
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Evaluation of a novel approach to circulating tumor cell isolation for cancer gene panel analysis in patients with breast cancer.

Oncology Letters
Lee, Soo Jeong SJ; Lee, Cham Han CH; Choi, Sung Ho SH; Ahn, Sei Hyun SH; Son, Byung Ho BH; Lee, Jong Won JW; Yu, Jong Han JH; Kwon, Nak-Jung NJ; Lee, Woo Chung WC; Yang, Kap-Seok KS; Lee, Dong Hyoung DH; Han, Du Yeol DY; Choi, Mi So MS; Park, Pyeong-Soo PS; Lee, Hyun Kyung HK; Kim, Myoung Shin MS; Lee, Jinseon J; Jeon, Byung Hee BH
Publication Date: 2017-05

Variant appearance in text: KIT: V824V
PubMed Link: 28521409
Variant Present in the following documents:
  • ol-13-05-3025.pdf
View BVdb publication page



Mutational analysis of single circulating tumor cells by next generation sequencing in metastatic breast cancer.

Oncotarget
De Luca, Francesca F; Rotunno, Giada G; Salvianti, Francesca F; Galardi, Francesca F; Pestrin, Marta M; Gabellini, Stefano S; Simi, Lisa L; Mancini, Irene I; Vannucchi, Alessandro Maria AM; Pazzagli, Mario M; Di Leo, Angelo A; Pinzani, Pamela P
Publication Date: 2016-05-03

Variant appearance in text: KIT: V824V
PubMed Link: 27034166
Variant Present in the following documents:
  • Main text
  • oncotarget-07-26107.pdf
View BVdb publication page



Molecular characterisation of gastrointestinal stromal tumours in a South African population.

Oncology Letters
Baker, Gillian G; Babb, Chantal C; Schnugh, Desmond D; Nayler, Simon S; Louw, Melanie M; Goedhals, Jacqueline J; Bringuier, Pierre-Paul PP; Blay, Jean-Yves JY; Willem, Pascale P
Publication Date: 2013-01

Variant appearance in text: KIT: V824V
PubMed Link: 23255912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sustained platelet-derived growth factor receptor alpha signaling in osteoblasts results in craniosynostosis by overactivating the phospholipase C-gamma pathway.

Molecular And Cellular Biology
Moenning, Anne A; Jäger, Richard R; Egert, Angela A; Kress, Wolfram W; Wardelmann, Eva E; Schorle, Hubert H
Publication Date: 2009-02

Variant appearance in text: KIT: V824V
PubMed Link: 19047372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phase II study of imatinib in patients with recurrent gliomas of various histologies: a European Organisation for Research and Treatment of Cancer Brain Tumor Group Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Raymond, Eric E; Brandes, Alba A AA; Dittrich, Christian C; Fumoleau, Pierre P; Coudert, Bruno B; Clement, Paul M J PM; Frenay, Marc M; Rampling, Roy R; Stupp, Roger R; Kros, Johan M JM; Heinrich, Michael C MC; Gorlia, Thierry T; Lacombe, Denis D; van den Bent, Martin J MJ; ,
Publication Date: 2008-10-01

Variant appearance in text: KIT: V824V
PubMed Link: 18824712
Variant Present in the following documents:
  • Main text
View BVdb publication page