Annotation Detail

Information
Associated Genes
CCNE1
Associated Variants
CCNE1 AMPLIFICATION ( ENST00000262643.8 )
CCNE1 AMPLIFICATION ( ENST00000262643.8 )
Associated Disease
estrogen-receptor positive breast cancer
Source Database
CIViC Evidence
Description
Preclinical study in breast cancer cell lines treated with CDK4/6 inhibitor palbociclib. Cell lines with acquired resistance to palbociclib were developed. Two palbociclib-resistant cell lines were derived through chronic exposure to 1 μmol/L palbociclib during 3 to 4 months. Copy number profiling from exome sequencing of MCF-7 and MCF-7pR, confirmed relative amplification of CCNE1. Silencing of CCNE1 or CDK2 alone in MCF-7pR cells had no effect on cell-cycle arrest, but resulted in substantially increased cell-cycle arrest and reduction in cell growth in combination with palbociclib.
Variant Origin
N/A
Variant Origin
N/A
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1629
Gene URL
https://civic.genome.wustl.edu/links/genes/11
Variant URL
https://civic.genome.wustl.edu/links/variants/187
Rating
3
Evidence Type
Predictive
Disease
Estrogen-receptor Positive Breast Cancer
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
27020857
Drugs
Drug NameSensitivitySupported
PalbociclibResitance or Non-Reponsetrue