Annotation Detail

Information
Associated Genes
CDK4
Associated Variants
CDK4 p.Arg24Cys (p.R24C) ( ENST00000549606.5, ENST00000312990.10, ENST00000257904.11 )
CDK4 p.Arg24Cys (p.R24C) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
In a cohort of 143 patients with primary invasive melanoma, copy-number gain of CDK4 was observed (FISH) in 37% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel of 47 melanoma cell lines. Four cell lines had an R24C activating mutation in CDK4, three of these were sensitive to PD0332991 (palbociclib).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1376
Gene URL
https://civic.genome.wustl.edu/links/genes/13
Variant URL
https://civic.genome.wustl.edu/links/variants/556
Rating
1
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24495407
Drugs
Drug NameSensitivitySupported
PalbociclibSensitivitytrue