Capture Hi-C identifies putative target genes at 33 breast cancer risk loci

• DOI: 10.1038/s41467-018-03411-9
• Publication Date: 2018-03-06T11:07:15Z
• Authors: Joseph S. Baxter; Olivia C. Leavy; Nicola H. Dryden; Sarah Maguire; Nichola Johnson; Vita Fedele; Nikiana Simigdala; Lesley-Ann Martin; Simon Andrews; Steven W. Wingett; Ioannis Assiotis; Kerry Fenwick; Ritika Chauhan; Alistair G. Rust; Nick Orr; Frank Dudbridge; Syed Haider; Olivia Fletcher
• Keywords: Genome-wide Association Study; SNP; Genetic Association

Genome-wide association studies (GWAS) have identified approximately 100 breast cancer risk loci. Translating these findings into a greater understanding of the mechanisms that influence disease requires identification genes or non-coding RNAs mediate associations. Here, we use Capture Hi-C (CHi-C) to annotate 63 loci; identify 110 putative target at 33 To assess support for in other data sources test associations between levels expression and SNP genotype (eQTLs), disease-specific survival (DSS), compare them with somatically mutated genes. 22 are eQTLs, 32 associated DSS 14 breast, other, cancers. Identifying GWAS loci will lead prognosis.