Annotation Detail

Information
Associated Genes
RASA1
Associated Variants
RASA1 MUTATION
RASA1 MUTATION
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Approximately 2% of NSCLCs had RASA1 truncating mutations, and this alteration was statistically, but not completely, mutually exclusive with known activating EGFR (p=0.02) and KRAS (p=0.02) mutations. Unexpectedly, RASA1 truncating mutations had a strong tendency to co-occur with NF1 truncating mutations (p<0.001). While growth of cell lines with inactivation of only one of these two RasGAPs showed moderate and variable sensitivity to inhibitors of MEK or PI3K, cells with concurrent RASA1/NF1 mutations were profoundly more sensitive (IC50: 0.040μM trametinib).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/5994
Gene URL
https://civic.genome.wustl.edu/links/genes/4791
Variant URL
https://civic.genome.wustl.edu/links/variants/2235
Rating
3
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Trametinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
29127119
Drugs
Drug NameSensitivitySupported
TrametinibSensitivitytrue