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
In a panel of head and neck cancer cell lines, 2 lines containing the PIK3CA mutation H1047R (Detroit562 and SNU-1076) were more sensitive to growth inhibition (IC50 1.10 and 6.82) by the PI3Kalpha specific inhibitor BYL719 (Alepelisib) than 3 of 4 lines with wild type PI3K (SNU-1066 IC50 1.13 μM; SNU-1041, 20.65 μM; FaDu, 19.67 μM; SCC25, 49.30 μM). In the H1047R mutant cell lines and the wildtype cell line tested, phospho-Akt and phospho-S6 levels were diminished with increasing BYL719 levels.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1401
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/107
Rating
1
Evidence Type
Predictive
Disease
Head And Neck Cancer
Evidence Direction
Supports
Drug
Alpelisib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25550549
Drugs
Drug NameSensitivitySupported
AlpelisibSensitivitytrue