Annotation Detail

Information
Associated Genes
CCND1
Associated Variants
CCND1 OVEREXPRESSION ( ENST00000227507.3 )
CCND1 OVEREXPRESSION ( ENST00000227507.3 )
Associated Disease
mantle cell lymphoma
Source Database
CIViC Evidence
Description
In Mantle Cell Lymphoma (MCL), t(11:14)-induced overexpression of cyclin D1 was targeted by CDK4/6 inhibitor Palbociclib (PD0332991). Palbociclib caused Rb dephosphorylation in MCL cell lines and patient derived tumor cells. MCL cell lines overexpressing cyclin D1 showed growth inhibition with Palbociclib. The VAL DLBCL cell line was used as control to verify cyclin D1 overexpression but was not used as a control in Palbociclib inhibitor experiments. Instead, the investigators report that other publications report cell lines without cyclin D1 overexpression had higher IC50 values for palbociclib, suggesting overexpresssed cyclin D1 targetability in MCL.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1563
Gene URL
https://civic.genome.wustl.edu/links/genes/8
Variant URL
https://civic.genome.wustl.edu/links/variants/20
Rating
1
Evidence Type
Predictive
Disease
Mantle Cell Lymphoma
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
16690963
Drugs
Drug NameSensitivitySupported
PalbociclibSensitivitytrue