Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 LOSS-OF-FUNCTION
RB1 LOSS-OF-FUNCTION - Associated Disease
- glioblastoma
- Source Database
- CIViC Evidence
- Description
- A panel of 21 glioblastoma cell lines harboring various mutations was treated with palbociclib. 16 of the cell lines with intact Rb showed decreased proliferation (bromodeoxyuridine incorporation, BrdU flow cytometry) and growth arrest characteristic of senescence, while the 5 cell lines that did not show a palbociclib response had homozygous deletion of Rb. Rb positive and palbociclib responsive GBM cell line U87MG was treated with shRNA against Rb. shRb treated cells showed restoration of cell proliferation (BrdU incorporation) under palbociclib treatment, indicating resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1595
- 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
- Glioblastoma Multiforme
- Evidence Direction
- Supports
- Drug
- Palbociclib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 20354191
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Palbociclib | Resitance or Non-Reponse | true |