Annotation Detail
Information
- Associated Genes
- PIK3R1
- Associated Variants
-
PIK3R1 MUTATION
PIK3R1 MUTATION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- Sensitivity to mTORC1/2 inhibitor PP242 was assessed in a panel of breast cancer cell lines with various mutation backgrounds. PTEN and PIK3CA mutations were heavily represented in the panel. However, a PTEN and PIK3CA wild type cell line 'HS578T' was found to harbor a mutation in the PI3K regulatory protein PIK3R1. Like PIK3CA mutant cell lines, the PIK3R1 mutant HS578T line was also determined to be sensitive to PP242. Approximately 70% of PIK3CA wild type lines were not sensitive to PP242. This suggests that mutations in the PI3K holoenzyme may be targetable by mTORC1/2 inhibition.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1612
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4289
- Variant URL
- https://civic.genome.wustl.edu/links/variants/633
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- MTOR Kinase Inhibitor PP242
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 21358673
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| MTOR Kinase Inhibitor PP242 | Sensitivity | true |