Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 PHOSPHORYLATION
RB1 PHOSPHORYLATION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- The p110alpha-specific PI3K inhibitor BYL719 (Alpelisib) was used on a panel of five PI3K inhibitor sensitive and five resistant breast cancer cell lines. Sensitive cells (IC50<400nM) showed reduced phospho-Rb (p-Rb) western blot levels in response to BYL719 treatment, while resistant cell lines (IC50>800nM) showed significantly less reduction in p-Rb after BYL719. Paired biopsies before and after treatment were taken from a set of eight patients classified as either responder or non-responder to BYL719. Responder samples showed significantly reduced p-Rb staining after treatment in comparison to non-responder biopsies. In biopsies taken from a group of three responders who progressed, p-Rb levels were increased after progression.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1609
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4795
- Variant URL
- https://civic.genome.wustl.edu/links/variants/632
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Alpelisib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 25002028
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Alpelisib | Resitance or Non-Reponse | true |