Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A LOSS
(
ENST00000579755.2 )
CDKN2A LOSS ( ENST00000579755.2 ) - Associated Disease
- Her2-receptor negative breast cancer
- Source Database
- CIViC Evidence
- Description
- A patient with metastatic ER-positive, her2-negative breast cancer with CDKN2A loss experienced a short-lived (~3-month) clinical response to palbociclib when given in combination with letrozole.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1765
- Gene URL
- https://civic.genome.wustl.edu/links/genes/14
- Variant URL
- https://civic.genome.wustl.edu/links/variants/554
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Her2-receptor Negative Breast Cancer
- Evidence Direction
- Supports
- Drug
- Palbociclib,Letrozole
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26715889
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Letrozole | Sensitivity | true |
| Palbociclib | Sensitivity | true |