Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL LOSS-OF-FUNCTION
VHL LOSS-OF-FUNCTION
Associated Disease
renal cell carcinoma
Source Database
CIViC Evidence
Description
A randomized, open-label phase 2 study, encompassing 85 patients, to compare the efficacy of dual PIK3/mTOR Inhibitor Apitolisib and mTORC1 inhibitor Everolimus in patients who progressed on or after antiangiogenetic therapy (VEGFR). There was a trend towards association between deleterious VHL alterations and progression-free-survival in the Everolimus arm only.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5323
Gene URL
https://civic.genome.wustl.edu/links/genes/58
Variant URL
https://civic.genome.wustl.edu/links/variants/160
Rating
4
Evidence Type
Predictive
Disease
Renal Cell Carcinoma
Evidence Direction
Supports
Drug
Everolimus
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26951309
Drugs
Drug NameSensitivitySupported
EverolimusSensitivitytrue