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http://hdl.handle.net/2445/124208
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DC Field | Value | Language |
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dc.contributor.author | Lázaro García, Conxi | - |
dc.contributor.author | ProCURE | - |
dc.contributor.author | Genetic Counseling Unit, Hereditary Cancer Program | - |
dc.date.accessioned | 2018-09-03T11:02:45Z | - |
dc.date.available | 2018-09-03T11:02:45Z | - |
dc.date.issued | 2017-12-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/124208 | - |
dc.description.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. | - |
dc.format.extent | 39 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Versió postprint del document publicat a: http://dx.doi.org/10.1038/ng.3785 | - |
dc.relation.ispartof | Nature Genetics, 2017, vol. 49, num. 12, p. 1767-1778 | - |
dc.relation.uri | http://dx.doi.org/10.1038/ng.3785 | - |
dc.rights | (c) Nature Publishing Group, 2017 | - |
dc.source | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) | - |
dc.subject.classification | Càncer de mama | - |
dc.subject.other | Breast cancer | - |
dc.title | Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.date.updated | 2018-07-24T11:54:32Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/633784/EU//B-CAST | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/656144/EU//RADIOGENFF | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/669026/EU//BIORISE | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/H2020/634935/EU//BRIDGES | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 29058716 | - |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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Identification of ten variants.pdf | 321.61 kB | Adobe PDF | View/Open |
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