Annotation Detail
Information
- Associated Genes
- RB1
- Associated Variants
-
RB1 p.Met695AsnfsTer26 (p.M695Nfs*26)
(
ENST00000267163.6,
ENST00000650461.1,
ENST00000713856.1,
ENST00000713858.1,
ENST00000713857.1 )
RB1 p.Met695AsnfsTer26 (p.M695Nfs*26) ( ENST00000267163.6, ENST00000650461.1, ENST00000713856.1, ENST00000713857.1, ENST00000713858.1 ) - 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. Palbociclib-resistant xenografts from one cell line (PDX244) were developed in-vivo. In resistant xenografts, western blot analysis showed a decrease of pRb protein levels in 4 of 7 CDK4/6-acquired resistant tumors and a sustained expression of the E2F target cyclin E2, in contrast to CDK4/6 inhibitor-sensitive PDX244. Genomic characterization of PDX244LR1 showed the acquisition of an RB1 frameshift mutation (RB1 p.M695fs*26).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1630
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4795
- Variant URL
- https://civic.genome.wustl.edu/links/variants/638
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Estrogen-receptor Positive Breast Cancer
- Evidence Direction
- Supports
- Drug
- Palbociclib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 27020857
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Palbociclib | Resitance or Non-Reponse | true |