KIT c.1666_1671del ;(p.Q556_W557del)

Variant ID: 4-55593600-ACAGTGG-A

NM_000222.2(KIT):c.1666_1671del;(p.Q556_W557del)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: KIT: Gln556_Trp557del
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Spectrum of the KIT Gene Mutations in Gastrointestinal Stromal Tumors in Arab Patients

Asian Pacific Journal Of Cancer Prevention : Apjcp
Faiyaz-Ul-Haque, Muhammad M; Al-Dayel, Fouad F; Tulba, Asma A; Abalkhail, Halah H; Alhussaini, Hussa H; Memon, Muhammad M; Bazarbashi, Shouki S; Amin, Tarek T; Satti, Mohamed B MB; Peltekova, Iskra I; Nawaz, Zafar Z; Zaidi, Syed HE SH
Publication Date: 2018-10-26

Variant appearance in text: KIT: 1666_1671del
PubMed Link: 30362320
Variant Present in the following documents:
  • Main text
  • APJCP-19-2905.pdf
View BVdb publication page



Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.

Esmo Open
Mavroeidis, Leonidas L; Metaxa-Mariatou, Vassiliki V; Papoudou-Bai, Alexandra A; Lampraki, Angeliki Maria AM; Kostadima, Lida L; Tsinokou, Ilias I; Zarkavelis, George G; Papadaki, Alexandra A; Petrakis, Dimitrios D; Gκoura, Stefania S; Kampletsas, Eleftherios E; Nasioulas, George G; Batistatou, Anna A; Pentheroudakis, George G
Publication Date: 2018

Variant appearance in text: KIT: 1666_1671delCAGTGG
PubMed Link: 29636989
Variant Present in the following documents:
  • Main text
  • esmoopen-2018-000335.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: 1666_1671delCAGTGG; Q556_W557del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Massively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy.

Bmc Cancer
Heydt, Carina C; Kumm, Niklas N; Fassunke, Jana J; Künstlinger, Helen H; Ihle, Michaela Angelika MA; Scheel, Andreas A; Schildhaus, Hans-Ulrich HU; Haller, Florian F; Büttner, Reinhard R; Odenthal, Margarete M; Wardelmann, Eva E; Merkelbach-Bruse, Sabine S
Publication Date: 2015-04-15

Variant appearance in text: KIT: Q556_W557del
PubMed Link: 25886408
Variant Present in the following documents:
  • Main text
  • 12885_2015_Article_1311.pdf
View BVdb publication page