Annotation Detail

Information
Associated Genes
CDKN2B
Associated Variants
CDKN2B LOSS ( ENST00000276925.7 )
CDKN2B LOSS ( ENST00000276925.7 )
Associated Disease
renal cell carcinoma
Source Database
CIViC Evidence
Description
Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC and three non-malignant, transformed cell lines derived from kidney epithelium). Both p15 and p16 loss (CGH) were tested for association with response to PD-0332991 using Fisher's exact test. Cell lines with p16 and p15 losses were significantly more likely to be classified as responders (defined by pharmacokinetic data-based concentration of <=400nM) to PD-0332991 (p=0.027, relative risk (RR)=2.06 and p=0.047, RR=1.71, respectively). Four cell lines had homozygous deletions of CDKN2A but not CDKN2B, and three of these lines were classified as being sensitive to PD-0332991. There were no cell lines with only CDKN2B deletion.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1374
Gene URL
https://civic.genome.wustl.edu/links/genes/916
Variant URL
https://civic.genome.wustl.edu/links/variants/555
Rating
3
Evidence Type
Predictive
Disease
Renal Cell Carcinoma
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
23898052
Drugs
Drug NameSensitivitySupported
PalbociclibSensitivitytrue