Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 LOSS-OF-FUNCTION
BRCA2 LOSS-OF-FUNCTION
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
In a study of 63 patients with ovarian cancer, 17 patients had BRCA1 or BRCA2 mutations and 46 patients had no BRCA mutations. Of the BRCA-positive patients, 7/17(41%; 95%CI 22-64) showed objective response to olaparib whereas only 11/46 BRCA-negative patients (24%; 95%CI 14-38) showed objective response to olaparib.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1773
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
Ovarian Cancer
Evidence Direction
Supports
Drug
Olaparib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
21862407
Drugs
Drug NameSensitivitySupported
OlaparibSensitivitytrue