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Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

(2017) NATURE GENETICS. 49(12). p.1767-1778
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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.
Keywords
GENOME-WIDE ASSOCIATION, BRCA2 MUTATION CARRIERS, SUSCEPTIBILITY LOCI, CONFER SUSCEPTIBILITY, FUNCTIONAL VARIANTS, OVARIAN CANCERS, COMMON VARIANTS, CONSORTIUM, EXPRESSION, DISEASE

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Chicago
Milne, Roger L, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, et al. 2017. “Identification of Ten Variants Associated with Risk of Estrogen-receptor-negative Breast Cancer.” Nature Genetics 49 (12): 1767–1778.
APA
Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., et al. (2017). Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NATURE GENETICS, 49(12), 1767–1778.
Vancouver
1.
Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S, Lindström S, et al. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. NATURE GENETICS. 2017;49(12):1767–78.
MLA
Milne, Roger L, Karoline B Kuchenbaecker, Kyriaki Michailidou, et al. “Identification of Ten Variants Associated with Risk of Estrogen-receptor-negative Breast Cancer.” NATURE GENETICS 49.12 (2017): 1767–1778. Print.
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  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 {\textlangle} 5 x 10(-8) with ten variants at nine new loci. At P {\textlangle} 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.},
  author       = {Milne, Roger L and Kuchenbaecker, Karoline B and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindstr{\"o}m, Sara and Hui, Shirley and Lema\c{c}on, Audrey and Soucy, Penny and Dennis, Joe and Jiang, Xia and Rostamianfar, Asha and Finucane, Hilary and Bolla, Manjeet K and McGuffog, Lesley and Wang, Qin and Aalfs, Cora M and Adams, Marcia and Adlard, Julian and Agata, Simona and Ahmed, Shahana and Ahsan, Habibul and Aittom{\"a}ki, Kristiina and Al-Ejeh, Fares and Allen, Jamie and Ambrosone, Christine B and Amos, Christopher I and Andrulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Auber, Bernd and Auer, Paul L and Ausems, Margreet G E M and Azzollini, Jacopo and Bacot, Fran\c{c}ois and Balma{\~n}a, Judith and Barile, Monica and Barjhoux, Laure and Barkardottir, Rosa B and Barrdahl, Myrto and Barnes, Daniel and Barrowdale, Daniel and Baynes, Caroline and Beckmann, 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  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  language     = {eng},
  number       = {12},
  pages        = {1767--1778},
  title        = {Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer},
  url          = {http://dx.doi.org/10.1038/ng.3785},
  volume       = {49},
  year         = {2017},
}

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