UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Association analysis identifies 65 new breast cancer risk loci

Michailidou, K; Lindstrom, S; Dennis, J; Beesley, J; Hui, S; Kar, S; Lemacon, A; ... Easton, DF; + view all (2017) Association analysis identifies 65 new breast cancer risk loci. Nature , 551 (7678) pp. 92-94. 10.1038/nature24284. Green open access

[thumbnail of Michailidou_Association_analysis_loci.pdf]
Preview
Text
Michailidou_Association_analysis_loci.pdf - Accepted Version

Download (732kB) | Preview

Abstract

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry1. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10−8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2–5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.

Type: Article
Title: Association analysis identifies 65 new breast cancer risk loci
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/nature24284
Publisher version: http://dx.doi.org/10.1038/nature24284
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Inst of Clinical Trials and Methodology > MRC Clinical Trials Unit at UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10036174
Downloads since deposit
126Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item