Annotation Detail

Information
Associated Genes
NF1
Associated Variants
NF1 MUTATION
NF1 MUTATION
Associated Disease
skin melanoma
Source Database
CIViC Evidence
Description
Preclinical study of mouse melanoma both in-vitro and in-vivo. Braf/Nf1-mutant melanomas were less sensitive to vemurafenib than the MEK inhibitor PD0325901. mTOR inhibition with rapamycin had a more pronounced effect than GDC-0941 on mouse melanoma, but synergized with PD0325901(but not vemurafenib) to promote tumor regression.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1469
Gene URL
https://civic.genome.wustl.edu/links/genes/3867
Variant URL
https://civic.genome.wustl.edu/links/variants/587
Rating
3
Evidence Type
Predictive
Disease
Skin Melanoma
Evidence Direction
Supports
Drug
Sirolimus,MEK Inhibitor PD0325901
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
23171796
Drugs
Drug NameSensitivitySupported
MEK Inhibitor PD0325901Sensitivitytrue
SirolimusSensitivitytrue