Annotation Detail

Information
Associated Genes
PIK3CA
Associated Variants
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000643187.1, ENST00000263967.4 )
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000263967.4, ENST00000643187.1 )
Associated Disease
head and neck squamous cell carcinoma
Source Database
CIViC Evidence
Description
Phase 1 study with the dual PI3K/mTOR inhibitor apitolisib. 120 patients were treated at doses between 2 and 70mg. Of the 14 evaluable patients with PIK3CA mutations total, there were 3 PRs (1 confirmed), 8 SD, and 3 PD as best radiological responses. One of the partial responses harbored a PIK3CA E542K mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1549
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/103
Rating
2
Evidence Type
Predictive
Disease
Head And Neck Squamous Cell Carcinoma
Evidence Direction
Supports
Drug
Apitolisib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26787751
Drugs
Drug NameSensitivitySupported
ApitolisibSensitivitytrue