KIT c.1667_1669del ;(p.Q556_W557delinsR)

Variant ID: 4-55593601-CAGT-C

NM_000222.2(KIT):c.1667_1669del;(p.Q556_W557delinsR)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: KIT: 1667_1669delAGT; Q556_W557delinsR
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, 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: 1667_1669delAGT; Q556_W557delinsR
PubMed Link: 30616628
Variant Present in the following documents:
  • Main text
  • 13148_2018_Article_594.pdf
View BVdb publication page



A single digital droplet PCR assay to detect multiple KIT exon 11 mutations in tumor and plasma from patients with gastrointestinal stromal tumors.

Oncotarget
Boonstra, Pieter A PA; Ter Elst, Arja A; Tibbesma, Marco M; Bosman, Lisette J LJ; Mathijssen, Ron R; Atrafi, Florence F; van Coevorden, Frits F; Steeghs, Neeltje N; Farag, Sheima S; Gelderblom, Hans H; van der Graaf, Winette T A WTA; Desar, Ingrid M E IME; Maier, Jacqueline J; Overbosch, Jelle J; Suurmeijer, Albert J H AJH; Gietema, Jourik J; Schuuring, Ed E; Reyners, Anna K L AKL
Publication Date: 2018-03-02

Variant appearance in text: KIT: 1667_1669del
PubMed Link: 29568401
Variant Present in the following documents:
  • Main text
  • oncotarget-09-13870.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: 1667_1669delAGT
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page