Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Nature genetics, 2015; 47 (4) doi:10.1038/ng.3242

Authors: Michailidou Kyriaki, Beesley Jonathan, Lindstrom Sara, Canisius Sander, Dennis Joe et al.(238)

Affiliation: University of Cambridge, United Kingdom; QIMR (Queensland Institute for Medical Research) Berghofer Medical Research Institute, Brisbane, QLD, Australia; Harvard School of Public Health, Boston, MA, United States; Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands; University of Cambridge, United Kingdom (show more (238))

Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.

Related patents


Map of newest papers for: loci breast

The top research papers for the subject are placed on the map. Studies form clusters based on semantic relation.

Size of the point represents relevance of the paper.

You can pan and zoom the graph using mouse and mouse wheel.

Right click on the paper to:

  • a) open the paper
  • b) to open first author’s resume page.

Left click on keyword to add it to search.

Sign up to create your own map!