Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 LOSS-OF-FUNCTION
RB1 LOSS-OF-FUNCTION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- In 3 ER positive and 2 ER negative breast cancer cell lines with intact Rb, significant growth inhibition, as measured by BrdU incorporation, was seen with incubation in CDK4/6 inhibitor palbociclib (PD-0332991). In contrast, two ER negative cell lines lacking detectable Rb were fully resistant to palbociclib. Knockdown of Rb in 3 of the tested Rb positive cell lines led to moderate palbociclib resistance in short term incubation experiments. In longer term (15 day) palbociclib incubations of ER negative MDA-MB-231 cells and ER positive MCF-7 cells, significant resistance to palbociclib was seen in Rb knockdown conditions while wild-type Rb cells maintained sensitivity.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1535
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4795
- Variant URL
- https://civic.genome.wustl.edu/links/variants/606
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Palbociclib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 20473330
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Palbociclib | Resitance or Non-Reponse | true |