Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Jiajun Shi; Yanfeng Zhang; Wei Zheng; Kyriaki Michailidou; Maya Ghoussaini; Manjeet K Bolla; Qin Wang; Joe Dennis; Michael Lush; Roger L Milne; Xiao-Ou Shu; Jonathan Beesley; Siddhartha Kar; Irene L Andrulis; Hoda Anton-Culver; Volker Arndt; Matthias W Beckmann; Zhiguo Zhao; Xingyi Guo; Javier Benitez; Alicia Beeghly-Fadiel; William Blot; Natalia V Bogdanova; Stig E Bojesen; Hiltrud Brauch; Hermann Brenner; Louise Brinton; Annegien Broeks; Thomas Brüning; Barbara Burwinkel; Hui Cai; Sander Canisius; Jenny Chang-Claude; Ji-Yeob Choi; Fergus J Couch; Angela Cox; Simon S Cross; Kamila Czene; Hatef Darabi; Peter Devilee; Arnaud Droit; Thilo Dork; Peter A Fasching; Olivia Fletcher; Henrik Flyger; Florentia Fostira; Valerie Gaborieau; Montserrat García-Closas; Graham G Giles; Mervi Grip; kConFab Investigators

doi:10.1002/ijc.30150

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Jiajun Shi, Yanfeng Zhang, Wei Zheng, Kyriaki Michailidou, Maya Ghoussaini, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Roger L Milne, Xiao-Ou Shu, Jonathan Beesley, Siddhartha Kar, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Matthias W Beckmann, Zhiguo Zhao, Xingyi Guo, Javier BenitezAlicia Beeghly-Fadiel, William Blot, Natalia V Bogdanova, Stig E Bojesen, Hiltrud Brauch, Hermann Brenner, Louise Brinton, Annegien Broeks, Thomas Brüning, Barbara Burwinkel, Hui Cai, Sander Canisius, Jenny Chang-Claude, Ji-Yeob Choi, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Peter Devilee, Arnaud Droit, Thilo Dork, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Florentia Fostira, Valerie Gaborieau, Montserrat García-Closas, Graham G Giles, Mervi Grip, kConFab Investigators

Department of Clinical Medicine

20 Citations (Scopus)

Abstract

Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.

Original language	English
Journal	International Journal of Cancer
Volume	139
Issue number	6
Pages (from-to)	1303-17
Number of pages	15
ISSN	0020-7136
DOIs	https://doi.org/10.1002/ijc.30150
Publication status	Published - 15 Sept 2016

Keywords

Journal Article

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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Shi, J., Zhang, Y., Zheng, W., Michailidou, K., Ghoussaini, M., Bolla, M. K., Wang, Q., Dennis, J., Lush, M., Milne, R. L., Shu, X.-O., Beesley, J., Kar, S., Andrulis, I. L., Anton-Culver, H., Arndt, V., Beckmann, M. W., Zhao, Z., Guo, X., ... kConFab Investigators (2016). Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. International Journal of Cancer, 139(6), 1303-17. https://doi.org/10.1002/ijc.30150

Shi, J, Zhang, Y, Zheng, W, Michailidou, K, Ghoussaini, M, Bolla, MK, Wang, Q, Dennis, J, Lush, M, Milne, RL, Shu, X-O, Beesley, J, Kar, S, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Zhao, Z, Guo, X, Benitez, J, Beeghly-Fadiel, A, Blot, W, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Brinton, L, Broeks, A, Brüning, T, Burwinkel, B, Cai, H, Canisius, S, Chang-Claude, J, Choi, J-Y, Couch, FJ, Cox, A, Cross, SS, Czene, K, Darabi, H, Devilee, P, Droit, A, Dork, T, Fasching, PA, Fletcher, O, Flyger, H, Fostira, F, Gaborieau, V, García-Closas, M, Giles, GG, Grip, M & kConFab Investigators 2016, 'Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer', International Journal of Cancer, vol. 139, no. 6, pp. 1303-17. https://doi.org/10.1002/ijc.30150

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title = "Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer",

abstract = "Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.",

keywords = "Journal Article",

author = "Jiajun Shi and Yanfeng Zhang and Wei Zheng and Kyriaki Michailidou and Maya Ghoussaini and Bolla, {Manjeet K} and Qin Wang and Joe Dennis and Michael Lush and Milne, {Roger L} and Xiao-Ou Shu and Jonathan Beesley and Siddhartha Kar and Andrulis, {Irene L} and Hoda Anton-Culver and Volker Arndt and Beckmann, {Matthias W} and Zhiguo Zhao and Xingyi Guo and Javier Benitez and Alicia Beeghly-Fadiel and William Blot and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Hiltrud Brauch and Hermann Brenner and Louise Brinton and Annegien Broeks and Thomas Br{\"u}ning and Barbara Burwinkel and Hui Cai and Sander Canisius and Jenny Chang-Claude and Ji-Yeob Choi and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Kamila Czene and Hatef Darabi and Peter Devilee and Arnaud Droit and Thilo Dork and Fasching, {Peter A} and Olivia Fletcher and Henrik Flyger and Florentia Fostira and Valerie Gaborieau and Montserrat Garc{\'i}a-Closas and Giles, {Graham G} and Mervi Grip and {kConFab Investigators}",

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T1 - Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

AU - Shi, Jiajun

AU - Zhang, Yanfeng

AU - Zheng, Wei

AU - Michailidou, Kyriaki

AU - Ghoussaini, Maya

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Dennis, Joe

AU - Lush, Michael

AU - Milne, Roger L

AU - Shu, Xiao-Ou

AU - Beesley, Jonathan

AU - Kar, Siddhartha

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Beckmann, Matthias W

AU - Zhao, Zhiguo

AU - Guo, Xingyi

AU - Benitez, Javier

AU - Beeghly-Fadiel, Alicia

AU - Blot, William

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Brinton, Louise

AU - Broeks, Annegien

AU - Brüning, Thomas

AU - Burwinkel, Barbara

AU - Cai, Hui

AU - Canisius, Sander

AU - Chang-Claude, Jenny

AU - Choi, Ji-Yeob

AU - Couch, Fergus J

AU - Cox, Angela

AU - Cross, Simon S

AU - Czene, Kamila

AU - Darabi, Hatef

AU - Devilee, Peter

AU - Droit, Arnaud

AU - Dork, Thilo

AU - Fasching, Peter A

AU - Fletcher, Olivia

AU - Flyger, Henrik

AU - Fostira, Florentia

AU - Gaborieau, Valerie

AU - García-Closas, Montserrat

AU - Giles, Graham G

AU - Grip, Mervi

AU - kConFab Investigators

PY - 2016/9/15

Y1 - 2016/9/15

N2 - Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.

AB - Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.

KW - Journal Article

U2 - 10.1002/ijc.30150

DO - 10.1002/ijc.30150

M3 - Journal article

C2 - 27087578

SN - 0020-7136

VL - 139

SP - 1303

EP - 1317

JO - International Journal of Cancer

JF - International Journal of Cancer

IS - 6

ER -

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Abstract

Keywords

UN SDGs

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