Annotation Detail
Information
- Associated Genes
- PIK3R2
- Associated Variants
-
PIK3R2 N561D
PIK3R2 N561D - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- An in vitro study of WM2664 (a human melanoma cell line) endogenously expressing wildtype PIK3R2 and BRAF V600D (a known BRAF inhibitor sensitizing mutation) found that cells virally induced to stably over-express PIK3R2 N561D were significantly more resistant to vemurafenib (a BRAF inhibitor) than cells transduced with an empty vector (40% vs 0% survival at the highest concentration, p < .0001).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4783
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4290
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1652
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24265155
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |