Annotation Detail
Information
- Associated Genes
- ASS1
- Associated Variants
-
ASS1 LOSS
ASS1 LOSS - Associated Disease
- sarcoma
- Source Database
- CIViC Evidence
- Description
- 90% out of 700 sarcoma samples (comprising 45 histologies) demonstrated loss or reduction of argininosuccinate synthetase 1 expression. Arginine auxotrophy confers sensitivity to arginine deprivation. In sarcoma models, arginine deprivation therapy with pegylated arginine deiminase (ADI-PEG20) maintains a prolonged state of arginine starvation without causing cell death. Combination of ADI-PEG20 and chloroquine led to synergistic cell death via necroptosis and apoptosis.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5988
- Gene URL
- https://civic.genome.wustl.edu/links/genes/450
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2230
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Sarcoma
- Evidence Direction
- Supports
- Drug
- Pegargiminase,Chloroquine
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27735949
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Chloroquine | Sensitivity | true |
| Pegargiminase | Sensitivity | true |