Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 LOSS-OF-FUNCTION
BRCA2 LOSS-OF-FUNCTION
Associated Disease
cancer
Source Database
CIViC Evidence
Description
In this phase 1 trial 60 patients with advanced solid tumors (ovarian, breast, colorectal, melanoma, sarcoma, prostate) were treated with PARP inhibitor olaparib. Durable antitumor activity was only observed in BRCA1/2 mutation carriers.19 BRCA carriers had ovarian, breast, or prostate cancers; 12 of these (63%) had a clinical benefit from treatment with olaparib: radiologic or tumor-marker responses or meaningful disease stabilization (stable disease for a period of 4 months or more). Nine BRCA carriers had a response according to RECIST, with the response sustained for more than 76 weeks in one patient. No responses were seen in patients without BRCA mutation.
Variant Origin
germline
Variant Origin
Rare Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1371
Gene URL
https://civic.genome.wustl.edu/links/genes/7
Variant URL
https://civic.genome.wustl.edu/links/variants/186
Rating
4
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Supports
Drug
Olaparib
Evidence Level
A
Clinical Significance
Sensitivity/Response
Pubmed
19553641
Drugs
Drug NameSensitivitySupported
OlaparibSensitivitytrue