Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 LOSS-OF-FUNCTION
BRCA1 LOSS-OF-FUNCTION - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- The authors show that in the CX-5461 and CX-3543, G-quadruplex stabilizing agents, demonstrate specific toxicity against BRCA deficient breast cancer derived cells and polyclonal patient-derived xenograft models. Xenografts harbored both a germline BRCA and a somatic BRCA mutation leading to disruption of both. The BRCA and NHEJ pathways are required for the repair of CX-5461 and CX-3543-induced DNA damage and failure to do so leads to lethality.
- Variant Origin
- Unknown
- Variant Origin
- Unknown
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1924
- Gene URL
- https://civic.genome.wustl.edu/links/genes/6
- Variant URL
- https://civic.genome.wustl.edu/links/variants/131
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Pol I Inhibitor CX5461,Quarfloxin
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28211448
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Pol I Inhibitor CX5461 | Sensitivity | true |
| Quarfloxin | Sensitivity | true |