KIT c.1717_1719del ;(p.P573del)

Variant ID: 4-55593651-CCCA-C

NM_000222.2(KIT):c.1717_1719del;(p.P573del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: KIT: P573del
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Mutational spectrum and classification of novel mutations in patients with metastatic gastrointestinal stromal tumours.

International Journal Of Oncology
Bombac, Alenka A; Zakotnik, Branko B; Bucic, Marina M; Setrajcic Dragos, Vita V; Gazic, Barbara B; Stegel, Vida V; Klancar, Gasper G; Novakovic, Srdjan S
Publication Date: 2020-06

Variant appearance in text: KIT: Pro573del
PubMed Link: 32236636
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



KIT and PDGFRa mutational patterns in Sardinian patients with gastrointestinal stromal tumors.

European Journal Of Cancer Prevention : The Official Journal Of The European Cancer Prevention Organisation (Ecp)
Palomba, Grazia G; Paliogiannis, Panagiotis P; Sini, Maria C MC; Colombino, Maria M; Casula, Milena M; Manca, Antonella A; Pisano, Marina M; Sotgiu, Giovanni G; Doneddu, Valentina V; Palmieri, Giuseppe G; Cossu, Antonio A
Publication Date: 2021-01

Variant appearance in text: KIT: P573del
PubMed Link: 32091431
Variant Present in the following documents:
  • ejcp-30-53-s001.pdf
View BVdb publication page



Concomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors.

Oncotarget
Rossi, Sabrina S; Sbaraglia, Marta M; Dell'Orto, Marta Campo MC; Gasparotto, Daniela D; Cacciatore, Matilde M; Boscato, Elena E; Carraro, Valentina V; Toffolatti, Luisa L; Gallina, Giovanna G; Niero, Monia M; Pilozzi, Emanuela E; Mandolesi, Alessandra A; Sessa, Fausto F; Sonzogni, Aurelio A; Mancini, Cristina C; Mazzoleni, Guido G; Romeo, Salvatore S; Maestro, Roberta R; Dei Tos, Angelo P AP
Publication Date: 2016-05-24

Variant appearance in text: KIT: Pro573del
PubMed Link: 27097112
Variant Present in the following documents:
  • Main text
  • oncotarget-07-30109.pdf
View BVdb publication page