Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu545Lys (p.E545K)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu545Lys (p.E545K) ( ENST00000263967.4, ENST00000643187.1 ) - 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) used PIK3CA E545K as a positive control for testing resistance to BRAF inhibition by vemurafenib. M229 cells virally transduced with PIK3CA E545K were significantly more resistant to vemurafenib-mediated growth suppression than cells transduced with empty vectors (50% vs 20% survival at the highest concentration, p <.0001). Furthermore, E545K appears to confer more resistance to vemurafenib than PIK3CA D350G and similar levels of resistance as E545G. Resistance was determined by assessing cell survival.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/3722
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/104
- 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 |