Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 p.? (p.?) ( ENST00000484087.6, ENST00000494123.6, ENST00000478531.6, ENST00000493795.5, ENST00000473961.6, ENST00000644555.2, ENST00000468300.5, ENST00000477152.6, ENST00000352993.7, ENST00000493919.6, ENST00000591534.5, ENST00000471181.7, ENST00000497488.2, ENST00000357654.9, ENST00000461574.2, ENST00000713676.1, ENST00000644379.2, ENST00000586385.5, ENST00000618469.2, ENST00000470026.6, ENST00000491747.6, ENST00000634433.2, ENST00000591849.5, ENST00000489037.2, ENST00000700182.1, ENST00000476777.6 )
BRCA1 p.? (p.?) ( ENST00000352993.7, ENST00000357654.9, ENST00000461574.2, ENST00000468300.5, ENST00000470026.6, ENST00000471181.7, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000491747.6, ENST00000493795.5, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000586385.5, ENST00000591534.5, ENST00000591849.5, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000700182.1, ENST00000713676.1 )
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/2869
Gene URL
https://civic.genome.wustl.edu/links/genes/6
Variant URL
https://civic.genome.wustl.edu/links/variants/1237
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Rucaparib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
27908594
Drugs
Drug NameSensitivitySupported
RucaparibSensitivitytrue