- Title
- Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
- Creator
- Milne, Roger L.; Kuchenbaecker, Karoline B.; Jiang, Xia; Rostamianfar, Asha; Finucane, Hilary; Bolla, Manjeet K.; McGuffog, Lesley; Wang, Qin; Aalfs, Cora M.; ABCTB Investigators; Braye, Stephen; Forbes, John; Michailidou, Kyriaki; Scott, Rodney J.; Beesley, Jonathan; Kar, Siddhartha; Lindström, Sara; Hui, Shirley; Lemaçon, Audrey; Soucy, Penny; Dennis, Joe
- Relation
- Nature Genetics Vol. 49, Issue 12, p. 1767-1778
- Publisher Link
- http://dx.doi.org/10.1038/ng.3785
- Publisher
- Nature Publishing Group
- Resource Type
- journal article
- Date
- 2017
- Description
- Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. 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.
- Subject
- genome-wide association studies; breast cancer; estrogen-receptor-negative breast cancer; genetics; SDG 3; Sustainable Development Goals
- Identifier
- http://hdl.handle.net/1959.13/1394947
- Identifier
- uon:33786
- Identifier
- ISSN:1061-4036
- Language
- eng
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Goal 3: Good Health and Well-Being
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