Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 LOSS-OF-FUNCTION
BRCA1 LOSS-OF-FUNCTION
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
A phase 2 trial on patients with relapsed, platinum-sensitive high grade ovarian carcinoma (ARIEL2 Part1, NCT01891344) was held to assess PARP inhibitor Rucaparib on 3 genetically defined subsets of patients. Out of 40 BRCA mutant patients, 10 had somatic BRCA1 mutation. Confirmed objective response was seen in 79% of the BRCA1 mutant subgroup, and 74% confirmed objective response was seen in the somatic BRCA mutant subgroup. In a BRCA wild-type subgroup, with low levels of Loss of Heterozygosity, confirmed objective response was observed in 10% of the patients.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1897
Gene URL
https://civic.genome.wustl.edu/links/genes/6
Variant URL
https://civic.genome.wustl.edu/links/variants/185
Rating
4
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Rucaparib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
27908594
Drugs
Drug NameSensitivitySupported
RucaparibSensitivitytrue