Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg233Ter (p.R233*)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg233Ter (p.R233*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- Cells with PTEN deficiency have been shown to exhibit slowed growth in reponse to PI3K-mTOR inhibitors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/317
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/110
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- MTOR Inhibitor
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 20085938
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| MTOR Inhibitor | Sensitivity | true |