Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
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Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. / Shi, Jiajun; Zhang, Yanfeng; Zheng, Wei; Michailidou, Kyriaki; Ghoussaini, Maya; Bolla, Manjeet K; Wang, Qin; Dennis, Joe; Lush, Michael; Milne, Roger L; Shu, Xiao-Ou; Beesley, Jonathan; Kar, Siddhartha; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Zhao, Zhiguo; Guo, Xingyi; Benitez, Javier; Beeghly-Fadiel, Alicia; Blot, William; Bogdanova, Natalia V; Bojesen, Stig E; Brauch, Hiltrud; Brenner, Hermann; Brinton, Louise; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Hui; Canisius, Sander; Chang-Claude, Jenny; Choi, Ji-Yeob; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Darabi, Hatef; Devilee, Peter; Droit, Arnaud; Dork, Thilo; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gaborieau, Valerie; García-Closas, Montserrat; Giles, Graham G; Grip, Mervi; kConFab Investigators.
In: International Journal of Cancer, Vol. 139, No. 6, 15.09.2016, p. 1303-17.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
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
N1 - © 2016 UICC.
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
VL - 139
SP - 1303
EP - 1317
JO - International Journal of Cancer
JF - International Journal of Cancer
SN - 0020-7136
IS - 6
ER -
ID: 167804698