KIT c.1693G>C ;(p.G565R)

Variant ID: 4-55593627-G-C

NM_000222.2(KIT):c.1693G>C;(p.G565R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Clonal Evolution of Metastatic Osteosarcoma as Shaped by Cisplatin Treatment.

Molecular Cancer Research : Mcr
Brady, Samuel W SW; Ma, Xiaotu X; Bahrami, Armita A; Satas, Gryte G; Wu, Gang G; Newman, Scott S; Rusch, Michael M; Putnam, Daniel K DK; Mulder, Heather L HL; Yergeau, Donald A DA; Edmonson, Michael N MN; Easton, John J; Alexandrov, Ludmil B LB; Chen, Xiang X; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Pappo, Alberto S AS; Raphael, Benjamin J BJ; Dyer, Michael A MA; Zhang, Jinghui J
Publication Date: 2019-04

Variant appearance in text: KIT: G565R
PubMed Link: 30651371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational Profile of Metastatic Breast Cancer Tissue in Patients Treated with Exemestane Plus Everolimus.

Biomed Research International
Omarini, Claudia C; Filieri, Maria Elisabetta ME; Bettelli, Stefania S; Manfredini, Samantha S; Kaleci, Shaniko S; Caprera, Cecilia C; Nasso, Cecilia C; Barbolini, Monica M; Guaitoli, Giorgia G; Moscetti, Luca L; Maiorana, Antonino A; Conte, Pier Franco PF; Cascinu, Stefano S; Piacentini, Federico F
Publication Date: 2018

Variant appearance in text: KIT: G565R
PubMed Link: 30140695
Variant Present in the following documents:
  • BMRI2018-3756981.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: KIT: G565R
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 2
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 1
View BVdb publication page



Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals Of Surgical Oncology
Pommier, Suellen J SJ; Hernandez, Ariel A; Han, Esther E; Massimino, Kristen K; Muller, Patrick P; Diggs, Brian B; Chamberlain, Erin E; Murphy, Jennifer J; Hansen, Juliana J; Naik, Arpana A; Vetto, John J; Pommier, Rodney F RF
Publication Date: 2012-02

Variant appearance in text: KIT: G565R
PubMed Link: 21748247
Variant Present in the following documents:
  • 10434_2011_1892_MOESM2_ESM.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: KIT: G565R
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page