Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF BRAF-CUL1
Associated Disease
ovarian serous carcinoma
Source Database
CIViC Evidence
Description
One patient with low-grade serous ovarian cancer had an in-frame fusion between the BRAF kinase domain and CUL1 identified by panel sequencing (MSK-IMPACT), with expression confirmed by whole-transcriptome sequencing. This patient with metastatic disease after treatment with carboplatin and paclitaxel, was enrolled onto a study of paclitaxel in combination with an oral MEK inhibitor and achieved a CR. She continued to receive therapy for 7 months, until discontinuation because of the development of pneumonitis. At publication, sustained CR had lasted > 18 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1662
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/656
Rating
2
Evidence Type
Predictive
Disease
Ovarian Serous Carcinoma
Evidence Direction
Supports
Drug
Mitogen-Activated Protein Kinase Kinase Inhibitor
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
26324360
Drugs
Drug NameSensitivitySupported
Mitogen-Activated Protein Kinase Kinase InhibitorSensitivitytrue