Annotation Detail

Information
Associated Genes
NQO1
Associated Variants
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
Associated Disease
lung cancer
Source Database
CIViC Evidence
Description
The presence of NQO1 C609T SNP (rs1800566) was associated with decreased protein expression and higher amrubicin sensitivity in 29 NSCLC and SCLC cell lines. 15 of these cell lines were genotyped for C609T (only 3 were T/T, and the rest were C/C or C/T). Cell lines with the T/T genotype had lower expression of NQ01 and greater response to amrubicinol.
Variant Origin
Common Germline
Variant Origin
Common Germline
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/941
Gene URL
https://civic.genome.wustl.edu/links/genes/1463
Variant URL
https://civic.genome.wustl.edu/links/variants/402
Rating
2
Evidence Type
Predictive
Disease
Lung Cancer
Evidence Direction
Supports
Drug
Amrubicin
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
21964527
Drugs
Drug NameSensitivitySupported
AmrubicinSensitivitytrue