Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 LOSS
(
ENST00000326873.12 )
STK11 LOSS ( ENST00000326873.12 ) - Associated Disease
- Peutz-Jeghers syndrome
- Source Database
- CIViC Evidence
- Description
- Treatment of mice with a heterozygous loss of Lkb1 (STK11) with rapamycin led to reduction in polyp size (p < 0.0001) and number of polyps (p=0.00022). pS6 staining was also reduced after rapamycin treatment. Rapamycin treatment abolished FDG-PET signal on imaging.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1619
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5534
- Variant URL
- https://civic.genome.wustl.edu/links/variants/485
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Peutz-Jeghers Syndrome
- Evidence Direction
- Supports
- Drug
- Sirolimus
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19541609
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sirolimus | Sensitivity | true |