rs2470352
This variant is located in the XPC gene.
▶ClinVar annotation
Xeroderma pigmentosum, group C; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Comprehensive analyses of DNA repair pathways, smoking and bladder cancer risk in Los Angeles and ShanghaiAssociationN=1,992Roman Corral et al.(2014)· International Journal of Cancer
A case-control study of 988 bladder cancer cases and 1,004 controls from Los Angeles and Shanghai examined 632 tagSNPs in 28 DNA repair genes across four pathways. Key findings include associations between POLB rs7832529 (OR=1.5, p=0.003) and bladder cancer risk among Chinese, XPC SNPs (rs2607734, rs2279017, rs2228001) among Chinese males, and OGG1 SNPs among Chinese females. XRCC6 rs2284082 showed significant interaction with smoking (p=0.001).
About XPC
The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
View all XPC 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…