Annotation Detail
Information
- Associated Genes
- BRCA1
- Associated Variants
-
BRCA1 LOSS-OF-FUNCTION
BRCA1 LOSS-OF-FUNCTION - Associated Disease
- Her2-receptor negative breast cancer
- Source Database
- CIViC Evidence
- Description
- 302 patients (234 with progression events) with HER2-negative metastatic breast cancer and with a confirmed deleterious or suspected deleterious germline BRCA mutation (164 BRCA1, 129 BRCA2) had significantly improved progression-free survival and better response rate to olaparib (PARP inhibitor) than standard therapy (7.0 mo vs 4.2 mo, hazard ratio 0.58, 95% CI 0.43-0.8) in this randomized phase 3 trial (NCT02000622). For BRCA1 patients specifically, the hazard ratio was 0.54, 95% CI 0.37-0.79).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5815
- Gene URL
- https://civic.genome.wustl.edu/links/genes/6
- Variant URL
- https://civic.genome.wustl.edu/links/variants/131
- Rating
- 5
- Evidence Type
- Predictive
- Disease
- Her2-receptor Negative Breast Cancer
- Evidence Direction
- Supports
- Drug
- Olaparib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28578601
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Olaparib | Sensitivity | true |