Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 MUTATION
ERCC1 MUTATION
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
XPC p.Ala499Val (p.A499V) ( ENST00000285021.12 ) - Associated Disease
- Malignant neoplasm of lung
- Source Database
- DisGeNET
- Description
- Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survival was observed among 185 stages III-IV patients treated with platinum-based chemotherapy without surgical operation: XPC rs2228000 (Ala499Val; P = 0.002) and ERCC1 rs11615 (Asn118Asn; P = 0.012).
- Pubmed
- 21739480
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0670476137553796
- Year of publication
- 2012
Drugs