Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA MUTATION
PIK3CA MUTATION - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- A set of 474 cell lines from the Cancer Cell Line Encyclopedia was tested for responsiveness to the PI3Kalpha specific inhibitor BYL719 (Alpelisib). In the PIK3CA wild type subroup of cell lines, 22% were assessed as responsive, while in the subgroup of cell lines with PIK3CA mutations, 64% were labeled as responders. 7 patient derived xenografts with PIK3CA mutations (H1047R, E545K, M1043I, C420R, Q546K) were transplanted into mice and treated with BYL719. 6/7 mice responded with strong tumor growth inhibition or regression, while one (H1047R) responded with weak growth inhibition.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1402
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/311
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Alpelisib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24608574
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Alpelisib | Sensitivity | true |