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http://hdl.handle.net/2445/124208
Title: | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
Author: | Lázaro García, Conxi ProCURE Genetic Counseling Unit, Hereditary Cancer Program |
Keywords: | Càncer de mama Breast cancer |
Issue Date: | 1-Dec-2017 |
Publisher: | Nature Publishing Group |
Abstract: | Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease(1). 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 x 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. |
Note: | Versió postprint del document publicat a: http://dx.doi.org/10.1038/ng.3785 |
It is part of: | Nature Genetics, 2017, vol. 49, num. 12, p. 1767-1778 |
URI: | http://hdl.handle.net/2445/124208 |
Related resource: | http://dx.doi.org/10.1038/ng.3785 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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Identification of ten variants.pdf | 321.61 kB | Adobe PDF | View/Open |
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