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 squamous cell carcinoma
- Source Database
- CIViC Evidence
- Description
- The Cal-33 HNSCC cell line with H1047R mutation was found to have a low antiproliferative IC50 value for the alpha, gamma and delta isoform-specific PI3K inhibitor taselisib. Increasing taselisib concentration induced reduction of phospho-Akt levels in Call-33 cells, while upregulating the cleaved PARP apoptotic marker. Among a panel of 26 HNSCC cell lines, activating PI3K mutations were associated with taselisib sensitivity in comparison to wild-type PI3K or PTEN mutant cell lines.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1465
- 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 Squamous Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Taselisib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26589432
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Taselisib | Sensitivity | true |