Annotation Detail

Information
Associated Genes
IDH1
Associated Variants
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
IDH1 p.Arg132His (p.R132H) ( ENST00000345146.7, ENST00000415913.5, ENST00000446179.5 )
Associated Disease
pancreatic ductal adenocarcinoma
Source Database
CIViC Evidence
Description
A 48-year-old female was diagnosed with metastatic pancreatic ductal adenocarcinoma and subsequently started on standard of care chemotherapy, during which her hepatic lesions progressed. Detailed molecular profiling was performed on a biopsy from a liver lesion that demonstrated an IDH1 mutation, R132H. The patient subsequently received a mutant IDH1 inhibitor (AG-120), but with no response.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5987
Gene URL
https://civic.genome.wustl.edu/links/genes/26
Variant URL
https://civic.genome.wustl.edu/links/variants/420
Rating
2
Evidence Type
Predictive
Disease
Pancreatic Ductal Adenocarcinoma
Evidence Direction
Does Not Support
Drug
Ivosidenib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27466707
Drugs
Drug NameSensitivitySupported
IvosidenibSensitivityfalse