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
head and neck cancer
Source Database
CIViC Evidence
Description
Two head and neck cancer cell lines with PIK3CA H1047R mutation were more sensitive to PI3K/mTOR inhibition with BEZ-235 (NVP-BEZ235, Dactolisib) than two wild type cell lines in vitro. One cell line with H1047R mutation was also found to be sensitive to BEZ-235 in vivo. PIK3CA (H1047R) mutation positive cell lines used were "CAL-33" and "Detroit 562". Wild type cell lines used here were "SCC-9" and "PE/CA-PJ34(clone C12)".
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1362
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/107
Rating
2
Evidence Type
Predictive
Disease
Head And Neck Cancer
Evidence Direction
Supports
Drug
Dactolisib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
23619167
Drugs
Drug NameSensitivitySupported
DactolisibSensitivitytrue