rs2066782
This variant is located in the RFC1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶SNP–SNP interactions between DNA repair genes were associated with breast cancer risk in a Korean populationAssociationN=1,659Wonshik Han et al.(2012)· Cancer
This dissertation investigated sex differences in melanoma using Connecticut Tumor Registry and Minnesota Skin Health study cohorts. Multiple SNPs in DNA repair genes (RFC1, ERCC4, ERCC5, ERCC6, PARP1, FBRSL1) and immune response genes (SMAD3, CXCL8, IFNγ, IL-17A) were associated with Breslow thickness and interacted with UV exposure to modify melanoma progression. Notably, rs4253114 (ERCC6) was the only SNP significant in both male and female sex-stratified analyses. UV exposure showed opposite effects between sexes: inversely associated with male mortality (HR 0.5-0.9 range) but not associated with female survival; skin awareness reduced Breslow thickness in females but not males.
About RFC1
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
View all RFC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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