Journal
NATURE GENETICS
Volume 49, Issue 12, Pages 1767-1778Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.3785
Keywords
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Categories
Funding
- government of Canada through Genome Canada and the Canadian Institutes of Health Research [GPH-129344]
- Ministere de l'Economie, de la Science et de l'Innovation du Quebec through Genome Quebec
- Quebec Breast Cancer Foundation for the PERSPECTIVE project
- US National Institutes of Health (NIH) [1 U19 CA 148065, X01HG007492, HHSN268201200008I]
- Cancer Research UK [C1287/A16563, C1287/A10710, C1287/A10118, C12292/A11174, C12292/A20861]
- Odense University Hospital Research Foundation (Denmark)
- National R&D Program for Cancer Control-Ministry of Health and Welfare (Republic of Korea) [1420190]
- Italian Association for Cancer Research (AIRC) [IG16933]
- Breast Cancer Research Foundation
- National Health and Medical Research Council (Australia)
- German Cancer Aid [110837]
- European Union [HEALTHF-2-2009-223175]
- NIH [CA128978, CA116167, CA176785]
- Post-Cancer GWAS initiative [1U19 CA148537, 1U19 CA148065, 1U19 CA148112]
- NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201]
- Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer
- Ministere de l'Economie, Innovation et Exportation du Quebec [PSR-SIIRI-701]
- Komen Foundation for the Cure
- Ovarian Cancer Research Fund
- NIH Cancer Post-Cancer GWAS initiative [1 U19 CA 148065]
- European Union via its Seventh Framework Programme [HEALTH-F2-2009-223175]
- Horizon Research and Innovation Programme [633784, 634935]
- [CA194393]
- Cancer Foundation Finland sr [110135, 160099, 130168, 150147] Funding Source: researchfish
- Cancer Research UK [16565, 23382, 16561, 15956, 20861, 10118, 16563, 15106, 12677] Funding Source: researchfish
- Cancer Research UK
- The Francis Crick Institute [10124] Funding Source: researchfish
- National Breast Cancer Foundation [PF-11-20, IF-12-06, IF-16-002] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0510-10096] Funding Source: researchfish
- MRC [MC_PC_14105] Funding Source: UKRI
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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.
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