Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN DELETION
(
ENST00000371953.8 )
PTEN DELETION ( ENST00000371953.8 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- A case report described a responder to PI3K inhibitor BYL719 for a tumor with PIK3CA E542K mutation. After partial response for 9.5 months, resistance developed. Sequencing in this and other patients as well as preclinical models showed loss of PTEN as the probable mechanism of resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/716
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/214
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Alpelisib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25409150
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Alpelisib | Resitance or Non-Reponse | true |