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
Her2-receptor positive breast cancer
Source Database
CIViC Evidence
Description
PI3K mutant E545K was overexpressed in the trastuzumab sensitive HER2 BT474 breast cancer cell line, and significant resistance to trastuzumab was induced in comparison to control cells.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1453
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/104
Rating
2
Evidence Type
Predictive
Disease
Her2-receptor Positive Breast Cancer
Evidence Direction
Supports
Drug
Trastuzumab
Evidence Level
D
Clinical Significance
Resistance
Pubmed
18829560
Drugs
Drug NameSensitivitySupported
TrastuzumabResitance or Non-Reponsetrue