Annotation Detail

Information

Associated Genes: BAP1
Associated Variants: BAP1 MUTATION
BAP1 MUTATION
Associated Disease: uveal melanoma
Source Database: CIViC Evidence
Description: Somatic and germline BAP1 mutations are associated with uveal melanoma. In this preclinical study, gene set enrichment analysis revealed HDAC inhibitors as potential drugs in BAP1 mutant uveal melanomas. HDAC inhibitors VPA, TSA, LBH-589, and SAHA (vorinostat) were tested in-vitro and led to decreased proliferation (all inhibitors) decreased viability and cytotoxicity (TSA, SAHA, LBH-589) in-vitro and in-vivo (VPA). RNAi mediated BAP1 knockdown increased sensitivity to HDAC inhibition (VPA).
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/1234
Gene URL: https://civic.genome.wustl.edu/links/genes/70
Variant URL: https://civic.genome.wustl.edu/links/variants/183
Rating: 3
Evidence Type: Predictive
Disease: Uveal Melanoma
Evidence Direction: Supports
Drug: Vorinostat,Trichostatin A,Panobinostat,Valproic Acid
Evidence Level: D
Clinical Significance: Sensitivity/Response
Pubmed: 22038994

Drugs