rs6435862
This variant is located in the BARD1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neuroblastoma
▶Research that mentions this SNP (1)
▶Fine mapping of 2q35 high‐risk neuroblastoma locus reveals independent functional risk variants and suggests full‐length BARD1 as tumor‐suppressorAssociationN=6,315Flora Cimmino et al.(2018)· International Journal of Cancer
Fine mapping analysis of the BARD1 locus (2q35) identified two independent functional SNPs associated with high-risk neuroblastoma: rs17489363 (C>T, OR=1.79, P=1.07×10⁻³¹) in the promoter region correlating with low full-length BARD1 expression, and rs1048108 (G>A, OR=0.65, P=7.27×10⁻¹⁴). Functional studies demonstrated that full-length BARD1 acts as a tumor suppressor, with low expression associated with aggressive neuroblastoma phenotype.
About BARD1
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
View all BARD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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