KIT c.1663_1668del ;(p.V555_Q556del)

Variant ID: 4-55593597-AGTACAG-A

NM_000222.2(KIT):c.1663_1668del;(p.V555_Q556del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: KIT: 1663_1668delGTACAG; V555_Q556del
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.

Clinical Epigenetics
Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM
Publication Date: 2019-01-07

Variant appearance in text: KIT: 1663_1668delGTACAG
PubMed Link: 30616628
Variant Present in the following documents:
  • Main text
  • 13148_2018_Article_594.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: 1663_1668delGTACAG; V555_Q556del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.

Oncotarget
Zhang, Rui R; Ding, Jiansheng J; Han, Yanxi Y; Yi, Lang L; Xie, Jiehong J; Yang, Xin X; Fan, Gaowei G; Wang, Guojing G; Hao, Mingju M; Zhang, Dong D; Zhang, Kuo K; Lin, Guigao G; Li, Jinming J
Publication Date: 2016-09-06

Variant appearance in text: KIT: 1663_1668del
PubMed Link: 27542269
Variant Present in the following documents:
  • Main text
View BVdb publication page