Annotation Detail
Information
- Associated Genes
- TSC1
- Associated Variants
-
TSC1 FRAMESHIFT TRUNCATION
(
ENST00000298552.9 )
TSC1 FRAMESHIFT TRUNCATION ( ENST00000298552.9 ) - Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- Following rapamycin treatment of mice with KrasG12D-induced lung tumors, mice with Tsc1 deletion (exon17/18 deletion resulting in frameshift) in the lung exhibit increased overall survival, increased apoptosis, reduced proliferation and reduced tumor burden compared to Tsc1 wildtype mice.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/154
- 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
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Sirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19966866
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sirolimus | Sensitivity | true |