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
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. One patient with BRAF V600E mutant anaplastic thyroid cancer had a complete response.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5961
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,Pertuzumab
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
29320312
Drugs
Drug NameSensitivitySupported
PertuzumabSensitivitytrue
VemurafenibSensitivitytrue