Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
CDKN2A LOSS ( ENST00000579755.2 )
CDKN2A LOSS ( ENST00000579755.2 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
Preclinical study in 9 melanoma cell lines. Three cell lines did not have CDKN2A (p16) mutations and showed expression of the protein on western blot analysis. Two of the other six cell lines had stop codons leading to a truncated protein, and three had missense mutations with evidence of protein expression on western blot (two cell lines with a P114L mutation and one with an E88K mutation). Mean IC50s of flavopiridol were significantly lower in cell lines with a mutated or non-expressed p16 (p16-) (mean 50% inhibitory concentration [IC(50)] = 12.5 nM), than in cell lines with intact p16 (p16+) (mean IC(50) = 25 nM).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1372
Gene URL
https://civic.genome.wustl.edu/links/genes/14
Variant URL
https://civic.genome.wustl.edu/links/variants/554
Rating
2
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Alvocidib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
12777976
Drugs
Drug NameSensitivitySupported
AlvocidibSensitivitytrue