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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
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2017 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 49, no 12, 1767-1778 p.Article in journal (Refereed) Published
Abstract [en]

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.

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2017. Vol. 49, no 12, 1767-1778 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-337233DOI: 10.1038/ng.3785PubMedID: 29058716OAI: oai:DiVA.org:uu-337233DiVA: diva2:1168649
Available from: 2017-12-21 Created: 2017-12-21 Last updated: 2017-12-21

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