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Nat Commun. 2018 Mar 12;9(1):1028. doi: 10.1038/s41467-018-03411-9.

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

Author information

1
Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW3 6JB, UK.
2
Department of Non-communicable Disease Epidemiology, The London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK.
3
Department of Health Sciences, University of Leicester, Leicester, LE1 7RH, UK.
4
Bioinformatics Group, The Babraham Institute, Cambridge, CB22 3AT, UK.
5
Tumour Profiling Unit, The Institute of Cancer Research, London, SW3 6JB, UK.
6
Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW3 6JB, UK. Syed.Haider@icr.ac.uk.
7
Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, SW3 6JB, UK. Olivia.Fletcher@icr.ac.uk.

Abstract

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

PMID:
29531215
PMCID:
PMC5847529
DOI:
10.1038/s41467-018-03411-9
[Indexed for MEDLINE]
Free PMC Article

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