Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
Mammary Neoplasms
Source Database
DisGeNET
Description
Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furthermore, show that this model recapitulates features of human breast tumors with PIK3CA H1047R.
Pubmed
21482677
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.171032036210879
Year of publication
2011
Drugs