Annotation Detail

Information
Associated Genes
NF2
Associated Variants
NF2 LOSS ( ENST00000338641.10 )
NF2 LOSS ( ENST00000338641.10 )
Associated Disease
thyroid gland carcinoma
Source Database
CIViC Evidence
Description
NF2 loss promotes oncogenic RAS-signaling via YAP-dependent transactivation of RAS and sensitizes to MEK inhibition. The authors demonstrate this in (A) isogenic lines derived from C643 cells (HRASG13R, NF2-WT) modified to stably express shNF2, (B) in set of 7 RAS-mutant thyroid cancer cell lines that differ in their NF2 expression levels, and (C) in a Hras-G12V/Nf2-null mouse model.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1742
Gene URL
https://civic.genome.wustl.edu/links/genes/3870
Variant URL
https://civic.genome.wustl.edu/links/variants/697
Rating
4
Evidence Type
Predictive
Disease
Thyroid Gland Carcinoma
Evidence Direction
Supports
Drug
Selumetinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
26359368
Drugs
Drug NameSensitivitySupported
SelumetinibSensitivitytrue