Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
breast carcinoma
Source Database
DisGeNET
Description
We further validated the approach in breast cancer cells with mutational activation of PIK3CA, where tandem mass spectrometry detected and quantitatively measured the abundance of a helical domain mutant (E545K) of PIK3CA connected to PI3K activation.
Pubmed
21775521
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0648746074271925
Year of publication
2011
Drugs