Association analysis identifies 65 new breast cancer risk loci

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Association analysis identifies 65 new breast cancer risk loci. / Michailidou, Kyriaki; Lindström, Sara ; Dennis, Joe G.; Beesley, Jonathan; Hui, Shirley ; Kar, Siddhartha; Broberg, Per; Ellberg, Carolina; Krüger, Ute; Olsson, Håkan.

In: Nature, Vol. 551, No. 7678, 2017, p. 92-94.

Research output: Contribution to journalArticle

Harvard

Michailidou, K, Lindström, S, Dennis, JG, Beesley, J, Hui, S, Kar, S, Broberg, P, Ellberg, C, Krüger, U & Olsson, H 2017, 'Association analysis identifies 65 new breast cancer risk loci', Nature, vol. 551, no. 7678, pp. 92-94. https://doi.org/10.1038/nature24284

APA

Michailidou, K., Lindström, S., Dennis, J. G., Beesley, J., Hui, S., Kar, S., ... Olsson, H. (2017). Association analysis identifies 65 new breast cancer risk loci. Nature, 551(7678), 92-94. https://doi.org/10.1038/nature24284

CBE

Michailidou K, Lindström S, Dennis JG, Beesley J, Hui S, Kar S, Broberg P, Ellberg C, Krüger U, Olsson H. 2017. Association analysis identifies 65 new breast cancer risk loci. Nature. 551(7678):92-94. https://doi.org/10.1038/nature24284

MLA

Vancouver

Michailidou K, Lindström S, Dennis JG, Beesley J, Hui S, Kar S et al. Association analysis identifies 65 new breast cancer risk loci. Nature. 2017;551(7678):92-94. https://doi.org/10.1038/nature24284

Author

Michailidou, Kyriaki ; Lindström, Sara ; Dennis, Joe G. ; Beesley, Jonathan ; Hui, Shirley ; Kar, Siddhartha ; Broberg, Per ; Ellberg, Carolina ; Krüger, Ute ; Olsson, Håkan. / Association analysis identifies 65 new breast cancer risk loci. In: Nature. 2017 ; Vol. 551, No. 7678. pp. 92-94.

RIS

TY - JOUR

T1 - Association analysis identifies 65 new breast cancer risk loci

AU - Michailidou, Kyriaki

AU - Lindström, Sara

AU - Dennis, Joe G.

AU - Beesley, Jonathan

AU - Hui, Shirley

AU - Kar, Siddhartha

AU - Broberg, Per

AU - Ellberg, Carolina

AU - Krüger, Ute

AU - Olsson, Håkan

N1 - Export Date: 20 November 2017

PY - 2017

Y1 - 2017

N2 - Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention. © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.

AB - Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention. © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.

KW - ancestry

KW - cancer

KW - gene

KW - genetic variation

KW - genome

KW - health risk

KW - heritability

KW - polymorphism

KW - tumor

KW - Europe

KW - Far East

U2 - 10.1038/nature24284

DO - 10.1038/nature24284

M3 - Article

VL - 551

SP - 92

EP - 94

JO - Nature

T2 - Nature

JF - Nature

SN - 0028-0836

IS - 7678

ER -