Genome-wide association study identifies five new breast cancer susceptibility loci

C Turnbull; S (Shahana) Ahmed; J Morrison; D Pernet; A Renwick; M Maranian; S Seal; M Ghoussaini; S Hines; CS Healey; D Hughes; M Warren-Perry; W Tapper; D Eccles; DG Evans; Maartje Hooning; Mieke Schutte; Ans van den Ouweland; R Houlston; G Ross; C Langford; PDP Pharoah; MR Stratton; AM Dunning; N Rahman; DF Easton

doi:10.1038/ng.586

Genome-wide association study identifies five new breast cancer susceptibility loci

C Turnbull, S (Shahana) Ahmed, J Morrison, D Pernet, A Renwick, M Maranian, S Seal, M Ghoussaini, S Hines, CS Healey, D Hughes, M Warren-Perry, W Tapper, D Eccles, DG Evans, Maartje Hooning, Mieke Schutte, Ans van den Ouweland, R Houlston, G RossC Langford, PDP Pharoah, MR Stratton, AM Dunning, N Rahman, DF Easton

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

Original language	Undefined/Unknown
Pages (from-to)	504-U47
Journal	Nature Genetics
Volume	42
Issue number	6
DOIs	https://doi.org/10.1038/ng.586
Publication status	Published - 2010

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10.1038/ng.586

http://hdl.handle.net/1765/19689

Cite this

Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., Healey, CS., Hughes, D., Warren-Perry, M., Tapper, W., Eccles, D., Evans, DG., Hooning, M., Schutte, M., van den Ouweland, A., Houlston, R., ... Easton, DF. (2010). Genome-wide association study identifies five new breast cancer susceptibility loci. Nature Genetics, 42(6), 504-U47. https://doi.org/10.1038/ng.586

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title = "Genome-wide association study identifies five new breast cancer susceptibility loci",

abstract = "Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.",

author = "C Turnbull and Ahmed, {S (Shahana)} and J Morrison and D Pernet and A Renwick and M Maranian and S Seal and M Ghoussaini and S Hines and CS Healey and D Hughes and M Warren-Perry and W Tapper and D Eccles and DG Evans and Maartje Hooning and Mieke Schutte and {van den Ouweland}, Ans and R Houlston and G Ross and C Langford and PDP Pharoah and MR Stratton and AM Dunning and N Rahman and DF Easton",

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Turnbull, C, Ahmed, S, Morrison, J, Pernet, D, Renwick, A, Maranian, M, Seal, S, Ghoussaini, M, Hines, S, Healey, CS, Hughes, D, Warren-Perry, M, Tapper, W, Eccles, D, Evans, DG, Hooning, M, Schutte, M, van den Ouweland, A, Houlston, R, Ross, G, Langford, C, Pharoah, PDP, Stratton, MR, Dunning, AM, Rahman, N & Easton, DF 2010, 'Genome-wide association study identifies five new breast cancer susceptibility loci', Nature Genetics, vol. 42, no. 6, pp. 504-U47. https://doi.org/10.1038/ng.586

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T1 - Genome-wide association study identifies five new breast cancer susceptibility loci

AU - Turnbull, C

AU - Ahmed, S (Shahana)

AU - Morrison, J

AU - Pernet, D

AU - Renwick, A

AU - Maranian, M

AU - Seal, S

AU - Ghoussaini, M

AU - Hines, S

AU - Healey, CS

AU - Hughes, D

AU - Warren-Perry, M

AU - Tapper, W

AU - Eccles, D

AU - Evans, DG

AU - Hooning, Maartje

AU - Schutte, Mieke

AU - van den Ouweland, Ans

AU - Houlston, R

AU - Ross, G

AU - Langford, C

AU - Pharoah, PDP

AU - Stratton, MR

AU - Dunning, AM

AU - Rahman, N

AU - Easton, DF

PY - 2010

Y1 - 2010

N2 - Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

AB - Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 x 10(-7) to P = 3.2 x 10(-15)). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 x 10(-6)), 8q24 (rs1562430, P = 5.8 x 10(-7)) and LSP1 (rs909116, P = 7.3 x 10(-7)) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.

U2 - 10.1038/ng.586

DO - 10.1038/ng.586

M3 - Article

C2 - 20453838

SN - 1061-4036

VL - 42

SP - 504-U47

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -