Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL LOSS ( ENST00000256474.3 )
VHL LOSS ( ENST00000256474.3 )
Associated Disease
renal carcinoma
Source Database
CIViC Evidence
Description
Preclinical studies linking the efficacy of mTOR inhibitor CCI-779 to VHL loss in vitro and in mouse models of kidney cancer. VHL-deficient tumors were more sensitive to mTOR inhibition than VHL-proficient tumors. Growth arrest caused by CCI-779 correlated with a block in translation of HIF1A mRNA. Expression of a VHL-resistant HIF1A cDNA lacking the 5' untranslated region rescued tumor growth.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1035
Gene URL
https://civic.genome.wustl.edu/links/genes/58
Variant URL
https://civic.genome.wustl.edu/links/variants/436
Rating
3
Evidence Type
Predictive
Disease
Renal Carcinoma
Evidence Direction
Supports
Drug
Temsirolimus
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
16341243
Drugs
Drug NameSensitivitySupported
TemsirolimusSensitivitytrue