rs13063604
This variant is located in the RUVBL1 gene.
▶Research that mentions this SNP (1)
▶Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancerAssociationN=10,389Notaridou M. et al.(2011)· International Journal of Cancer
A candidate gene association study tested 63 tagging SNPs in 9 genes (AIFM2, AKTIP, AXIN2, CASP5, FILIP1L, RBBP8, RGC32, RUVBL1, STAG3) identified from a functional screen for ovarian cancer suppression. In 1,799 cases and 3,045 controls, SNPs in AXIN2 (rs11079571, OR=1.73), CASP5 (rs518604, OR=1.44), and RUVBL1 (rs13063604, OR=1.39) showed association with ovarian cancer risk. Two RUVBL1 SNPs (rs13063604 and rs7650365) showed stronger associations with serous subtype cancer, but neither replicated in a Stage 2 sample of 4,590 cases and 6,031 controls. Loss of heterozygosity analysis and array CGH identified allele-specific somatic alterations for STAG3 rs1637001, suggesting a potential mechanism for this variant in ovarian tumor development.
About RUVBL1
This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
View all RUVBL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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