Neuroblastoma, Susceptibility To, 5
For a general phenotypic description and a discussion of genetic heterogeneity of neuroblastoma, see NBLST1 (256700).
MappingIn a genomewide analysis of 397 patients with high-risk aggressive neuroblastoma derived from the 1,032 patients in a study by Maris et al. (2008) and 2,043 controls, Capasso et al. (2009) found a significant association with 6 SNPs at chromosome 2q35 within the BARD1 locus (601593) (p = 2.35 x 10(-9) to 2.25 x 10(-8)). The associations were confirmed in a second series of 189 high-risk cases and 1,178 controls (p = 7.90 x 10(-7) to 2.77 x 10(-4)). Testing of the 2 most significant SNPs (rs6435862 and rs3768716) in 2 additional independent high-risk neuroblastoma case series yielded a combined allelic odds ratio of 1.68 for each SNP (p = 8.65 x 10(-18) and 2.74 x 10(-16), respectively). These data suggested that common variation in the BARD1 gene may contribute to the etiology of aggressive human neuroblastoma.