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
Preclinical study in a mouse model of Peutz-Jeghers syndrome. Heterozygous Lkb1 (STK11) knockout mice were generated and treated with rapamycin after the onset of polyposis at 9 months of age. Rapamycin treatment significantly suppressed polyposis (p=0.017) and pS6 staining (IHC, p=0.011).
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1618
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
18281551
Drugs
Drug NameSensitivitySupported
SirolimusSensitivitytrue