Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 MUTATION
ERCC1 MUTATION
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
POLR1G p.Lys261Thr (p.K261T) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Asp396Asn (p.D396N) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
XRCC1 p.Arg194Trp (p.R194W) ( ENST00000262887.10, ENST00000543982.5 )
POLR1G p.Lys261Thr (p.K261T) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Asp396Asn (p.D396N) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 ) - Associated Disease
- Neoplasm Metastasis
- Source Database
- DisGeNET
- Description
- Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1 rs2336219 have a significantly increased risk of CRC; Trp allele of XRCC1 Arg194Trp and CC genotype of ERCC1 rs735482 were associated with lower response to oxaliplatin-based chemotherapy, a shorter survival and a higher risk of relapse or metastasis.
- Pubmed
- 25690281
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.126448591581471
- Year of publication
- 2016
Drugs