Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Arg (p.H1047R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 ) - 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 PIK3CA H1047R mutation. Transfection of another cell line with this mutation led to lower IC50 values to perifosine and temsirolimus than in a cell line transfected with a control vector. Perifosine treatment also increased apoptosis of a thyroid tumor xenograft with PIK3CA H1047R mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1625
- Gene URL
- https://civic.genome.wustl.edu/links/genes/37
- Variant URL
- https://civic.genome.wustl.edu/links/variants/107
- Rating
- 3
- 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 |