Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA AMPLIFICATION
(
ENST00000263967.4 )
PIK3CA AMPLIFICATION ( ENST00000263967.4, ENST00000497599.5 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- An in vitro study of M229 (a human melanoma cell line) endogenously expressing wildtype PIK3CA and BRAF V600E (a known BRAF inhibitor sensitizing mutation) found that cells induced to stably over-express PIK3CA (via viral transduction with additional copies of wild type PIK3CA) were significantly more resistant to vemurafenib (a BRAFi) than cells transduced with an empty vector (30% vs 20% survival, p < .0001). Though statistics were not provided, it appears that amplification of wildtype PIK3CA confers less resistance than the positive control variant, PIK3CA E545K.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6275
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/212
- Rating
- 2
- 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 |