Annotation Detail
Information
- Associated Genes
- RAD50
- Associated Variants
-
RAD50 L1237F
RAD50 L1237F - Associated Disease
- ureter small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- The publication describes a patient with a somatic RAD50 L1237F mutation in combination with LOH and a TP53 A161T mutation that showed a complete response to a combination treatment with Irinotecan and the CHK1 inhibitor AZD7762.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5829
- Gene URL
- https://civic.genome.wustl.edu/links/genes/8032
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2168
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Ureter Small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Irinotecan,Checkpoint Kinase Inhibitor AZD7762
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24934408
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Checkpoint Kinase Inhibitor AZD7762 | Sensitivity | true |
| Irinotecan | Sensitivity | true |