Annotation Detail

Information
Associated Genes
EZH2
Associated Variants
EZH2 Y646
EZH2 Y646
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
Preclinical study in melanoma cell lines. EZH2 expression was higher in EZH2 mutant (N=3) and wild-type melanoma cell lines (N=12) than untransformed cells (human epithelial melanocytes and human dermal fibroblasts). EZH2 mutant cell lines were the most sensitive to GSK126 compared to wild-type and untransformed.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1494
Gene URL
https://civic.genome.wustl.edu/links/genes/63
Variant URL
https://civic.genome.wustl.edu/links/variants/165
Rating
2
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
GSK126
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26304929
Drugs
Drug NameSensitivitySupported
GSK126Sensitivitytrue