Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000713680.1, ENST00000713678.1, ENST00000700202.2, ENST00000544455.6, ENST00000380152.8, ENST00000530893.7 )
BRCA2 p.Arg2336Pro (p.R2336P) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patients with germline or somatic BRCA1 or BRCA2 mutation (n=40) were associated with improved progression free survival (HR 0.27, 95% CI: 0.16-0.44, p<0.0001) as compared to BRCA1/2 wild-type, loss of heterozygosity low patients (n=71) treated with rucaparib monotherapy; further, BRCA1/2 mutation patients achieved a longer median duration of response (9.2 months, 95% CI: 6.4-12.9, p=0.013 vs. 5.6 months, 95% CI: 4.6-8.5).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2884
Gene URL
https://civic.genome.wustl.edu/links/genes/7
Variant URL
https://civic.genome.wustl.edu/links/variants/1252
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Rucaparib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27908594
Drugs
Drug NameSensitivitySupported
RucaparibSensitivitytrue