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
cancer
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 45 evaluable patients receiving 40mg, two patients with E545K PIK3CA mutation (one head and neck squamous cell carcinoma patient and a patient with ovarian cancer) had unconfirmed partial responses. Of the 14 evaluable patients with PIK3CA mutations total, there were 3 PRs (1 confirmed), 8 SD, and 3 PD as best radiological responses.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1550
Gene URL
https://civic.genome.wustl.edu/links/genes/37
Variant URL
https://civic.genome.wustl.edu/links/variants/104
Rating
1
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Supports
Drug
Apitolisib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26787751
Drugs
Drug NameSensitivitySupported
ApitolisibSensitivitytrue