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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, RL; Kuchenbaecker, KB; Michailidou, K; Beesley, J; Kar, S; Lindström, S; Hui, S; ... Simard, J; + view all (2017) Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. Nature Genetics , 49 pp. 1767-1778. 10.1038/ng.3785. Green open access

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Abstract

Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10(-8) with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer.

Type: Article
Title: Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/ng.3785
Publisher version: http://doi.org/10.1038/ng.3785
Language: English
Additional information: © 2017 Nature America, Inc., part of Springer Nature. All rights reserved. This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Breast cancer; Genome-wide association studies
UCL classification: UCL > Provost and Vice Provost Offices
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 Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Division of Psychiatry
URI: https://discovery.ucl.ac.uk/id/eprint/10027834
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