Annotation Detail

Information
Associated Genes
MET
Associated Variants
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 )
MET p.Thr1010Ile (p.T1010I) ( ENST00000318493.11, ENST00000397752.8 )
Associated Disease
Mammary Neoplasms
Source Database
DisGeNET
Description
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutations in both MET (p.T992I) and PIK3CA (p.H1047R).
Pubmed
24318467
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00898737634364243
Year of publication
2013
Drugs