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
In a cohort of 143 patients with primary invasive melanoma hemizygous or homozygous loss of CDKN2A was observed (FISH) in 56% of cases. PD0332991 efficacy (proliferation assay) was assessed in a panel of 47 melanoma cell lines. Loss of functional p16INK4A (CDKN2A) due to gene deletion (49% of cells), methylation (4% of cells), or mutation (19% of cells) was the most prevalent alteration occurring in 71% of cell lines, and significantly correlated with PD0332991 sensitivity (Fisher's exact test P < 0.02).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1375
Gene URL
https://civic.genome.wustl.edu/links/genes/14
Variant URL
https://civic.genome.wustl.edu/links/variants/554
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
24495407
Drugs
Drug NameSensitivitySupported
PalbociclibSensitivitytrue