rs17332991
This is a regulatory region variant variant in the ERCC8 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
substance-related disorder
▶Research that mentions this SNP (1)
▶Xeroderma pigmentosum complementation group C single‐nucleotide polymorphisms in the nucleotide excision repair pathway correlate with prolonged progression‐free survival in advanced ovarian cancerAssociationN=139Nicole D. Fleming et al.(2012)· Cancer
A case-control study of 139 patients with advanced ovarian cancer found that SNPs in the nucleotide excision repair (NER) pathway genes, particularly XPC and XPF/ERCC4, were associated with platinum chemotherapy response. XPC rs3731108 AG/AA genotype was associated with prolonged progression-free survival (PFS) of 21.3 months vs 13.4 months (HR=0.63, p=0.03), XPC rs1124303 GT/GG genotype with PFS of 22.8 vs 14.9 months (HR=0.47, p=0.03), and XPC-PAT polymorphism with extended PFS (HR=0.56, p=0.01). These XPC associations remained significant after multivariate adjustment for BRCA status and cytoreductive surgery outcome.
About ERCC8
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
View all ERCC8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…