Annotation Detail

Information
Associated Genes
STK11
Associated Variants
STK11 p.Asp194Glu (p.D194E) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
STK11 p.Asp194Glu (p.D194E) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 )
Associated Disease
pancreatic cancer
Source Database
CIViC Evidence
Description
Case study of a 46-year old male patient with Peutz-Jeghers Syndrome and pancreatic cancer. A germline STK11 D194E mutation was identified with LOH in the tumor sample. phospho-S6 ribosomal protein staining was observed in the tumor indicating mTOR pathway activation. Everolimus treatement led to partial response (but no change in phospho-S6 ribosomal protein staining) for 9 months.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1617
Gene URL
https://civic.genome.wustl.edu/links/genes/5534
Variant URL
https://civic.genome.wustl.edu/links/variants/634
Rating
2
Evidence Type
Predictive
Disease
Pancreatic Cancer
Evidence Direction
Supports
Drug
Everolimus
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21189378
Drugs
Drug NameSensitivitySupported
EverolimusSensitivitytrue