Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 LOSS-OF-FUNCTION
BRCA1 LOSS-OF-FUNCTION - Associated Disease
- triple-receptor negative breast cancer
- Source Database
- CIViC Evidence
- Description
- In an evaluation of 77 patients, those who had BRCA1/2 germline mutations (n=11) had an increase response rate to cisplatin when compared to those without germline mutations (54.5% versus 19.7%; P=0.022) although progression free survival and overall survival was not significantly different.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1684
- Gene URL
- https://civic.genome.wustl.edu/links/genes/6
- Variant URL
- https://civic.genome.wustl.edu/links/variants/185
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Triple-receptor Negative Breast Cancer
- Evidence Direction
- Supports
- Drug
- Carboplatin,Cisplatin
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25847936
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Carboplatin | Sensitivity | true |
| Cisplatin | Sensitivity | true |