Annotation Detail

Information

Associated Genes: BRAF
Associated Variants: BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
BRAF p.Val640Glu (p.V640E) ( ENST00000288602.11, ENST00000496384.7, ENST00000644969.2, ENST00000646891.2 )
Associated Disease: gastrointestinal neuroendocrine tumor
Source Database: CIViC Evidence
Description: BRAF mutations were identified in 9% of 108 cases of high-grade colorectal neuroendocrine tumors (80% V600E). Two patients were treated with a combination of BRAF and MEK inhibition and exhibited durable response (beyond 7 and 9 months, respectively). Urinary BRAF V600E tumor DNA correlated with disease response in one of the patients. BRAF and MEK inhibition was either dabrafenib+trametinib (case 1) or vemurafenib+trametinib (case 2).
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/1430
Gene URL: https://civic.genome.wustl.edu/links/genes/5
Variant URL: https://civic.genome.wustl.edu/links/variants/12
Rating: 3
Evidence Type: Predictive
Disease: Gastrointestinal Neuroendocrine Tumor
Evidence Direction: Supports
Drug: Trametinib,Dabrafenib,Vemurafenib
Evidence Level: C
Clinical Significance: Sensitivity/Response
Pubmed: 27048246

Drugs