Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 LOSS-OF-FUNCTION
BRCA2 LOSS-OF-FUNCTION
Associated Disease
pancreatic cancer
Source Database
CIViC Evidence
Description
Patient with germline BRCA2 mutation underwent resection of pancreatic cancer. Around three years later, tumor recurrence was detected by MRI and PET-CT confirmed it. She was treated with gemcitabine plus iniparib in clinical trial. Excellent response to therapy was observed and surgery was performed but no residual tumor tissue was detected
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5936
Gene URL
https://civic.genome.wustl.edu/links/genes/7
Variant URL
https://civic.genome.wustl.edu/links/variants/186
Rating
3
Evidence Type
Predictive
Disease
Pancreatic Cancer
Evidence Direction
Supports
Drug
Iniparib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
21508395
Drugs
Drug NameSensitivitySupported
IniparibSensitivitytrue