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. 2010 Jun;42(6):504-7.
doi: 10.1038/ng.586. Epub 2010 May 9.

Genome-wide association study identifies five new breast cancer susceptibility loci

Clare Turnbull  1 , Shahana Ahmed, Jonathan Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D Gareth Evans; Breast Cancer Susceptibility Collaboration (UK); Maartje Hooning, Mieke Schutte, Ans van den Ouweland, Richard Houlston, Gillian Ross, Cordelia Langford, Paul D P Pharoah, Michael R Stratton, Alison M Dunning, Nazneen Rahman, Douglas F Easton
Affiliations

Genome-wide association study identifies five new breast cancer susceptibility loci

Clare Turnbull et al. Nat Genet. 2010 Jun.

Abstract

Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

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Figures

Figure 1
Figure 1
Manhattan plot of 1-d.f. Cochran-Armitage P values for association by genomic position.
See this image and copyright information in PMC

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