Annotation Detail

Information
Associated Genes
RB1
Associated Variants
RB1 LOSS-OF-FUNCTION
RB1 LOSS-OF-FUNCTION
Associated Disease
lung small cell carcinoma
Source Database
CIViC Evidence
Description
Study evaluated a total of 50 small cell lung cancer patients with extensive stage disease. Multivariate analysis identified RB1 as a factor in predicting response to first-line chemotherapy (odds ratio 5.58 compared to WT, p=.038). Kaplan-Meier survival analysis revealed patients with RB1 mutations exhibited better overall survival (p = .04, 11.7 versus 9.1 months, CI = 1.1-28.2).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1866
Gene URL
https://civic.genome.wustl.edu/links/genes/4795
Variant URL
https://civic.genome.wustl.edu/links/variants/799
Rating
2
Evidence Type
Predictive
Disease
Lung Small Cell Carcinoma
Evidence Direction
Supports
Drug
Chemotherapy
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
26802149
Drugs
Drug NameSensitivitySupported
ChemotherapySensitivitytrue