Annotation Detail

Information
Associated Genes
BARD1
Associated Variants
BARD1 MUTATION
BARD1 MUTATION
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
Loss of BARD1 function through the expression of a BARD1 splice variant, BARD1β, results in a more malignant phenotype with decreased RAD51 foci formation, reduced BRCA1 E3 ubiquitin ligase activity, and decreased nuclear BRCA1 protein localization. BARD1β sensitizes colon cancer cells to poly ADP ribose polymerase 1 (PARP-1) inhibition even in a BRCA1 WT background.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5953
Gene URL
https://civic.genome.wustl.edu/links/genes/549
Variant URL
https://civic.genome.wustl.edu/links/variants/2219
Rating
3
Evidence Type
Predictive
Disease
Colorectal Cancer
Drug
Olaparib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
27197561
Drugs
Drug NameSensitivitySupported
OlaparibSensitivityfalse