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
In pancreatic cell lines PL11 (FANCC-deficient) and CAPAN1 (BRCA2-mutated), sensitivity to DNA cross-linking agents was observed compared to FANCC/BRCA2 wildtype cell lines (Su86.86, CFPAC, AsPc1, and MiaPaCa2). Mitomycin C specifically led to regression in 8/11 xenografts of the CAPAN1 cell line compared to 2/9 in the CFPAC (BRCA2 wildtype) cell line.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1308
Gene URL
https://civic.genome.wustl.edu/links/genes/7
Variant URL
https://civic.genome.wustl.edu/links/variants/132
Rating
2
Evidence Type
Predictive
Disease
Pancreatic Cancer
Evidence Direction
Supports
Drug
Mitomycin
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
16243825
Drugs
Drug NameSensitivitySupported
MitomycinSensitivitytrue