Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
lung adenocarcinoma
Source Database
CIViC Evidence
Description
Doxycycline dependent expression of the PIK3CA H1047R mutation in mouse type II alveolar epithelial cells drove lung cancer in a reversible fashion, indicating the driver properties of this p110alpha catalytic domain mutation. Administration of pan-p110 isoform and mTOR inhibitor BEZ235 to H1047R mice with established tumors resulted in reduced tumor phospho-Akt and phosoho-S6 levels, and significant regression of tumor volume.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1447
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/107
Rating
3
Evidence Type
Predictive
Disease
Lung Adenocarcinoma
Evidence Direction
Supports
Drug
Dactolisib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
19029981
Drugs
Drug NameSensitivitySupported
DactolisibSensitivitytrue