Annotation Detail

Information
Associated Genes
VHL
Associated Variants
VHL LOSS ( ENST00000256474.3 )
VHL LOSS ( ENST00000256474.3 )
Associated Disease
renal cell carcinoma
Source Database
CIViC Evidence
Description
A meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in patients with RCC. Six studies (total of 633 patients) were included. 61,8% had a VHL mutation. The meta-analysis showed no association between the VHL gene alteration and overall response rate or progression free survival. There was also no correlation to overall survival. VEGFR inhibition included: Sunitinib, Sorafenib, Axitinib, Pazopanib, Bevacizumab.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4830
Gene URL
https://civic.genome.wustl.edu/links/genes/58
Variant URL
https://civic.genome.wustl.edu/links/variants/436
Rating
4
Evidence Type
Predictive
Disease
Renal Cell Carcinoma
Evidence Direction
Does Not Support
Drug
Anti-VEGF Monoclonal Antibody
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
28103578
Drugs
Drug NameSensitivitySupported
Anti-VEGF Monoclonal AntibodySensitivityfalse