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
- cervix carcinoma
- Source Database
- CIViC Evidence
- Description
- CaSki cells that are heterozygous for the PIK3CA-E545K mutation are more resistant to cisplatin or cisplatin plus radiation than either HeLa or SiHa cells that express only wild-type PIK3CA. Similarly, HeLa cells engineered to stably express PIK3CA-E545K were more resistant to cisplatin or cisplatin plus radiation than cells expressing only wild-type PIK3CA or with PIK3CA depleted. Cells expressing the PIK3CA-E545K mutation also had constitutive PI3K pathway activation and increased cellular migration and each of these phenotypes was reversed by treatment with the PI3K inhibitor GDC-0941/Pictilisib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2985
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/104
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cervix Carcinoma
- Evidence Direction
- Supports
- Drug
- Cisplatin
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 27489350
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Cisplatin | Resitance or Non-Reponse | true |