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
Anaplastic thyroid carcinoma
Source Database
CIViC Evidence
Description
In a phase 2 “basket” study of vemurafenib in BRAF V600-positive non-melanoma cancers, seven patients with anaplastic thyroid cancer were enrolled. All 7 patients had V600E mutations. One complete response and one partial response was observed, for a response rate of 29%.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6045
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
Anaplastic Thyroid Carcinoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26287849
Drugs
Drug NameSensitivitySupported
VemurafenibSensitivitytrue