Annotation Detail
Information
- Associated Genes
- IDH1
- Associated Variants
-
IDH1 MUTATION
IDH1 MUTATION - Associated Disease
- brain glioma
- Source Database
- CIViC Evidence
- Description
- Mutations in isocitrate dehydrogenase 1 and 2, which result in overproduction of 2-hydroxyglutarate (2HG). 2HG is considered to be an oncometabolite, or a metabolite that promotes carcinogenesis, and inhibitors of mutant isocitrate dehydrogenase are in development to target this process. The authors discovered that 2HG overproduction impairs homologous recombination used in DNA repair and sensitizes cancer cells to treatment with PARP inhibitors, another class of cancer drugs that are already in clinical use.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2933
- Gene URL
- https://civic.genome.wustl.edu/links/genes/26
- Variant URL
- https://civic.genome.wustl.edu/links/variants/645
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Brain Glioma
- Evidence Direction
- Supports
- Drug
- Olaparib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28148839
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Olaparib | Sensitivity | true |