Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN DELETION
(
ENST00000371953.8 )
PTEN DELETION ( ENST00000371953.8 ) - Associated Disease
- endometrial cancer
- Source Database
- CIViC Evidence
- Description
- A panel of 24 endometroid endometrial cancer (EEC) cell lines was characterized for mutations and 18 cell lines were found to have mutations in PTEN or absence of expression. Cell lines were assessed for sensitivity to mTORC1 allosteric inhibitor temsirolimus, and it was reported that PTEN loss had significant association with temsirolimus sensitivity. .
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1614
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/214
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Endometrial Cancer
- Evidence Direction
- Supports
- Drug
- Temsirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23674493
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Temsirolimus | Sensitivity | true |