Annotation Detail

Information
Associated Genes
BRCA1
Associated Variants
BRCA1 p.Trp1836Ter (p.W1836*) ( ENST00000471181.7, ENST00000591534.5, ENST00000491747.6, ENST00000352993.7, ENST00000357654.9, ENST00000591849.5, ENST00000586385.5, ENST00000493795.5, ENST00000470026.6, ENST00000468300.5, ENST00000461574.2, ENST00000473961.6, ENST00000476777.6, ENST00000477152.6, ENST00000478531.6, ENST00000484087.6, ENST00000489037.2, ENST00000493919.6, ENST00000494123.6, ENST00000497488.2, ENST00000618469.2, ENST00000634433.2, ENST00000644379.2, ENST00000644555.2, ENST00000713676.1 )
BRCA1 p.Trp1836Ter (p.W1836*) ( 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, ENST00000713676.1 )
Associated Disease
ovarian cancer
Source Database
CIViC Evidence
Description
In an in vitro study, a SNU-251 cell line expressing BRCA1 W1815X mutation demonstrated increased sensitivity to olaparib treatment with long-term exposure, compared to ovarian cell lines expressing BRCA1 wild-type. Sensitivity was determined by assessing cytotoxicity and doubling time.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4623
Gene URL
https://civic.genome.wustl.edu/links/genes/6
Variant URL
https://civic.genome.wustl.edu/links/variants/1555
Evidence Type
Predictive
Disease
Ovarian Cancer
Evidence Direction
Supports
Drug
Olaparib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
23415752
Drugs
Drug NameSensitivitySupported
OlaparibSensitivitytrue