Evidence that Breast Cancer Risk at the 2q35 Locus is Mediated through IGFBP5 Regulation

Maya Ghoussaini
Stacey L. Edwards
Kyriaki Michailidou
Silje Nord

Maya Ghoussaini;Stacey Edwards


GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the ‘iCOGS’ genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data. All but two, strongly correlated SNPs (rs4442975 G/T and rs6721996 G/A) are excluded as candidate causal variants at odds against > 100:1. The best functional candidate, rs4442975, is associ