Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 COPY-NEUTRAL LOSS OF HETEROZYGOSITY
BRCA2 COPY-NEUTRAL LOSS OF HETEROZYGOSITY - Associated Disease
- glioblastoma
- Source Database
- CIViC Evidence
- Description
- In a case report, a 3‐year‐old girl with glioblastoma harboring a probable germline heterozygous BRCA2 Lys3326Ter (K3226*) nonsense variant. After debulking surgery, the patient received standard‐of‐care treatment with radiation and temozolomide. Nine months later the PARP inhibitor olaparib was administered in combination with temozolomide for 16 cycles. This regimen was well tolerated by the patient and serial imaging showed a reduction in tumor size.
- Variant Origin
- Unknown
- Variant Origin
- Unknown
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7724
- Gene URL
- https://civic.genome.wustl.edu/links/genes/7
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2871
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Glioblastoma Multiforme
- Evidence Direction
- Supports
- Drug
- Temozolomide,Olaparib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 31619547
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Olaparib | Sensitivity | true |
| Temozolomide | Sensitivity | true |