rs25496

This variant is located in the XRCC1 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; XRCC1-related disorder

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Research that mentions this SNP (1)

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Genetic variation in the base excision repair pathway and bladder cancer risk
AssociationN=2,299Jonine D. Figueroa et al.(2007)· Human Genetics

Case-control study of 1,150 bladder cancer cases and 1,149 controls analyzing 43 SNPs in 12 base excision repair (BER) genes. Significant associations with bladder cancer risk were found for OGG1 rs125701 (OR=0.78, 95% CI 0.63-0.96, decreased risk), PARP1 rs1136410/V762A (OR=1.24, 95% CI 1.02-1.51, increased risk), and POLB rs3136717 (OR=1.30, 95% CI 1.04-1.62, increased risk). Meta-analysis of XRCC1 rs25487 (Q399R) across 7 studies showed no overall association with bladder cancer risk.

Traits studied:Bladder cancerUrinary bladder transitional cell carcinoma
PubMedDOIMetascience Observatory

About XRCC1

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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