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
Malignant neoplasm of breast
Source Database
DisGeNET
Description
Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the potential of PIK3CA(H1047R), one of the most frequent mutations occurring in human breast cancer, to induce multipotency during tumorigenesis in the mammary gland.
Pubmed
26266975
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.304375770317307
Year of publication
2015
Drugs