rs7727691
This is a upstream gene variant variant in the XRCC4 gene.
▶Research that mentions this SNP (1)
▶Potentially functional polymorphisms in DNA repair genes and non‐small‐cell lung cancer survival: A pathway‐based analysisAssociationN=568Jing Dong et al.(2012)· Molecular Carcinogenesis
A pathway-based candidate gene association study of 218 SNPs in 50 DNA repair genes on non-small-cell lung cancer (NSCLC) survival in 568 Chinese patients. Six SNPs remained significant in multivariate analysis: ATM rs189037 (HR=1.40, p=0.011), MRE11A rs11020802 (HR=1.35, p=0.007), ERCC2 rs1799793 (HR=1.56, p=0.009), MBD4 rs140693 (HR=0.49, p=0.001), XRCC1 rs25487 (HR=1.66, p=0.001), and PMS1 rs5742933 (HR=1.89, p=0.011). In advanced patients treated with platinum-based chemotherapy, ERCC1 rs11615 and XPC rs2228000 were associated with survival.
About XRCC4
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
View all XRCC4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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