Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF MUTATION
BRAF MUTATION
Associated Disease
colorectal cancer
Source Database
CIViC Evidence
Description
This was a retrospective clinical study of 44 metastatic colorectal cancer patients who received FOLFIRI (5-Fluorouacil + Folinic acid + irinotecan) first-line therapy alone or with bevacizumab. It assessed the relationship between BRAF mutation status in primary tumors and response to irinotecan-based first line therapy, as measured by PFS. Of the 44 patients, 39 had wildtype BRAF and 5 had mutations in BRAF—including V600E and D594K. The study found that patients harboring a BRAF mutation were significantly more resistant to irinotecan-based first-line therapy than patients with wildtype BRAF (Median PFS: 3.5 and 12.8 months, respectively; p = .006).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6304
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/399
Rating
3
Evidence Type
Predictive
Disease
Colorectal Cancer
Evidence Direction
Supports
Drug
Irinotecan
Evidence Level
B
Clinical Significance
Resistance
Pubmed
19603024
Drugs
Drug NameSensitivitySupported
IrinotecanResitance or Non-Reponsetrue