Annotation Detail

Information
Associated Genes
CDK6
Associated Variants
CDK6 OVEREXPRESSION ( ENST00000265734.8 )
CDK6 OVEREXPRESSION ( ENST00000265734.8 )
Associated Disease
estrogen-receptor positive breast cancer
Source Database
CIViC Evidence
Description
In two cohorts (n=45 and n=46) of ER+ breast cancer patients who had received fulvestrant, CDK6 overexpression correlated with shorter median time to progression in both cohorts (2.5 vs. 8.2 months and 3.4 vs. 8.9 months for CDK6 overexpression vs. normal expression). CDK6 expression did not correlate with other lines of treatment (N=68, tamoxifen or endocrine therapy). Four fulvestrant-resistant cell lines were derived from estrogen responsive and fulvestrant sensitive parental breast cancer cell line MCF-7/SO.5. Gene expression profiling showed upregulation of CDK6 in the fulvestrant resistant derivatives. Knockdown of CDK6 in these derivative cells resulted in fulvestrant sensitivity.
Variant Origin
N/A
Variant Origin
N/A
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1526
Gene URL
https://civic.genome.wustl.edu/links/genes/12
Variant URL
https://civic.genome.wustl.edu/links/variants/602
Rating
4
Evidence Type
Predictive
Disease
Estrogen-receptor Positive Breast Cancer
Evidence Direction
Supports
Drug
Fulvestrant
Evidence Level
B
Clinical Significance
Resistance
Pubmed
27252418
Drugs
Drug NameSensitivitySupported
FulvestrantResitance or Non-Reponsetrue