Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg130Ter (p.R130*)
(
ENST00000371953.8,
ENST00000472832.3,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg130Ter (p.R130*) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- thyroid cancer
- Source Database
- CIViC Evidence
- Description
- Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathway were more sensitive to Akt inhibitor perifosine or MTOR inhibitor temsirolimus than 5 cell lines without genetic alterations in the PI3K/Akt pathway. Among the alterations, one cell line harbored a PTEN allele deletion and R130* mutation. This cell line harbored the lowest IC50 values to both perifosine and temsirolimus and also showed increased apoptosis with perifosine in a xenograft model.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1627
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/636
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Thyroid Cancer
- Evidence Direction
- Supports
- Drug
- Perifosine,Temsirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19706758
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Perifosine | Sensitivity | true |
| Temsirolimus | Sensitivity | true |