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.
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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 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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