KIT c.1693_1695del ;(p.G565del)

Variant ID: 4-55593627-TGGA-T

NM_000222.2(KIT):c.1693_1695del;(p.G565del)

This variant was identified in 7 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: G565del
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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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: G565del
PubMed Link: 32091431
Variant Present in the following documents:
  • Main text
  • ejcp-30-53-s001.pdf
  • ejcp-30-53.pdf
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FGFR1 and NTRK3 actionable alterations in "Wild-Type" gastrointestinal stromal tumors.

Journal Of Translational Medicine
Shi, Eileen E; Chmielecki, Juliann J; Tang, Chih-Min CM; Wang, Kai K; Heinrich, Michael C MC; Kang, Guhyun G; Corless, Christopher L CL; Hong, David D; Fero, Katherine E KE; Murphy, James D JD; Fanta, Paul T PT; Ali, Siraj M SM; De Siena, Martina M; Burgoyne, Adam M AM; Movva, Sujana S; Madlensky, Lisa L; Heestand, Gregory M GM; Trent, Jonathan C JC; Kurzrock, Razelle R; Morosini, Deborah D; Ross, Jeffrey S JS; Harismendy, Olivier O; Sicklick, Jason K JK
Publication Date: 2016-12-14

Variant appearance in text: KIT: G565del
PubMed Link: 27974047
Variant Present in the following documents:
  • 12967_2016_1075_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Correlation between mutational status and survival and second cancer risk assessment in patients with gastrointestinal stromal tumors: a population-based study.

World Journal Of Surgical Oncology
Rubió-Casadevall, Jordi J; Borràs, Joan Lluis JL; Carmona-García, Maria Carme MC; Ameijide, Alberto A; Gonzalez-Vidal, Allan A; Ortiz, Maria Rosa MR; Bosch, Ramon R; Riu, Francesc F; Parada, David D; Martí, Esther E; Miró, Josefina J; Sirvent, Juan Jose JJ; Galceran, Jaume J; Marcos-Gragera, Rafael R
Publication Date: 2015-02-13

Variant appearance in text: KIT: G565del
PubMed Link: 25885906
Variant Present in the following documents:
  • Main text
  • 12957_2015_Article_474.pdf
View BVdb publication page



Post-transcriptional dysregulation by miRNAs is implicated in the pathogenesis of gastrointestinal stromal tumor [GIST].

Plos One
Kelly, Lorna L; Bryan, Kenneth K; Kim, Su Young SY; Janeway, Katherine A KA; Killian, J Keith JK; Schildhaus, Hans-Ulrich HU; Miettinen, Markku M; Helman, Lee L; Meltzer, Paul S PS; van de Rijn, Matt M; Debiec-Rychter, Maria M; O'Sullivan, Maureen M; ,
Publication Date: 2013

Variant appearance in text: KIT: G565del
PubMed Link: 23717541
Variant Present in the following documents:
  • Main text
  • pone.0064102.pdf
View BVdb publication page



KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential.

World Journal Of Gastroenterology
Kontogianni-Katsarou, Katerina K; Dimitriadis, Euthimios E; Lariou, Constantina C; Kairi-Vassilatou, Evi E; Pandis, Nikolaos N; Kondi-Paphiti, Agatha A
Publication Date: 2008-03-28

Variant appearance in text: KIT: G565del
PubMed Link: 18350628
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of platelet-derived growth factor receptor alpha mutations with gastric primary site and epithelioid or mixed cell morphology in gastrointestinal stromal tumors.

The Journal Of Molecular Diagnostics : Jmd
Wardelmann, Eva E; Hrychyk, Aksana A; Merkelbach-Bruse, Sabine S; Pauls, Katharina K; Goldstein, Jennifer J; Hohenberger, Peter P; Losen, Inge I; Manegold, Christoph C; Büttner, Reinhard R; Pietsch, Torsten T
Publication Date: 2004-08

Variant appearance in text: KIT: G565del
PubMed Link: 15269295
Variant Present in the following documents:
  • Main text
View BVdb publication page