Annotation Detail
Information
- Associated Genes
- TSC1
- Associated Variants
-
TSC1 FRAMESHIFT TRUNCATION
(
ENST00000298552.9 )
TSC1 FRAMESHIFT TRUNCATION ( ENST00000298552.9 ) - Associated Disease
- invasive bladder transitional cell carcinoma
- Source Database
- CIViC Evidence
- Description
- A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was shown to harbor a TSC1 frameshift truncation mutation (c.1907_1908del, p.Glu636fs) and a nonsense NF2 mutation. 2/3 additional patients with TSC1 mutations also had mild responses to everolimus.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/320
- Gene URL
- https://civic.genome.wustl.edu/links/genes/46
- Variant URL
- https://civic.genome.wustl.edu/links/variants/124
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Invasive Bladder Transitional Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Everolimus
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22923433
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Sensitivity | true |