Please use this identifier to cite or link to this item: https://doi.org/10.1002/ijc.30150
Title: Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Authors: 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
Bruening, 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
Garcia-Closas, Montserrat
Giles, Graham G
Grip, Mervi
Guenel, Pascal
Haiman, Christopher A
Hamann, Ute
Hartman, Mikael 
Miao, Hui
Hollestelle, Antoinette
Hopper, John L
Hsiung, Chia-Ni
Investigators, KConFab
Ito, Hidemi
Jakubowska, Anna
Johnson, Nichola
Torres, Diana
Kabisch, Maria
Kang, Daehee
Khan, Sofia
Knight, Julia A
Kosma, Veli-Matti
Lambrechts, Diether
Li, Jingmei
Lindblom, Annika
Lophatananon, Artitaya
Lubinski, Jan
Mannermaa, Arto
Manoukian, Siranoush
Le Marchand, Loic
Margolin, Sara
Marme, Frederik
Matsuo, Keitaro
McLean, Catriona
Meindl, Alfons
Muir, Kenneth
Neuhausen, Susan L
Nevanlinna, Heli
Nord, Silje
Borresen-Dale, Anne-Lise
Olson, Janet E
Orr, Nick
van den Ouweland, Ans MW
Peterlongo, Paolo
Putti, Thomas Choudary 
Rudolph, Anja
Sangrajrang, Suleeporn
Sawyer, Elinor J
Schmidt, Marjanka K
Schmutzler, Rita K
Shen, Chen-Yang
Hou, Ming-Feng
Shrubsole, Matha J
Southey, Melissa C
Swerdlow, Anthony
Teo, Soo Hwang
Thienpont, Bernard
Toland, Amanda E
Tollenaar, Robert AEM
Tomlinson, Ian
Truong, Therese
Tseng, Chiu-Chen
Wen, Wanqing
Winqvist, Robert
Wu, Anna H
Yip, Cheng Har
Zamora, Pilar M
Zheng, Ying
Floris, Giuseppe
Cheng, Ching-Yu
Hooning, Maartje J
Martens, John WM
Seynaeve, Caroline
Kristensen, Vessela N
Hall, Per
Pharoah, Paul DP
Simard, Jacques
Chenevix-Trench, Georgia
Dunning, Alison M
Antoniou, Antonis C
Easton, Douglas F
Cai, Qiuyin
Long, Jirong
Keywords: Science & Technology
Life Sciences & Biomedicine
Oncology
breast cancer
genetic susceptibility
8q24
fine-mapping
single nucleotide polymorphism
GENOME-WIDE ASSOCIATION
SUSCEPTIBILITY LOCI
COLORECTAL-CANCER
ANALYSES REVEAL
GENE DESERT
C-MYC
EXPRESSION
FOXA1
AMPLIFICATION
DETERMINANT
Issue Date: 15-Sep-2016
Publisher: WILEY
Citation: 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, Bruening, 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, Garcia-Closas, Montserrat, Giles, Graham G, Grip, Mervi, Guenel, Pascal, Haiman, Christopher A, Hamann, Ute, Hartman, Mikael, Miao, Hui, Hollestelle, Antoinette, Hopper, John L, Hsiung, Chia-Ni, Investigators, KConFab, Ito, Hidemi, Jakubowska, Anna, Johnson, Nichola, Torres, Diana, Kabisch, Maria, Kang, Daehee, Khan, Sofia, Knight, Julia A, Kosma, Veli-Matti, Lambrechts, Diether, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Le Marchand, Loic, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, McLean, Catriona, Meindl, Alfons, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Nord, Silje, Borresen-Dale, Anne-Lise, Olson, Janet E, Orr, Nick, van den Ouweland, Ans MW, Peterlongo, Paolo, Putti, Thomas Choudary, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Shen, Chen-Yang, Hou, Ming-Feng, Shrubsole, Matha J, Southey, Melissa C, Swerdlow, Anthony, Teo, Soo Hwang, Thienpont, Bernard, Toland, Amanda E, Tollenaar, Robert AEM, Tomlinson, Ian, Truong, Therese, Tseng, Chiu-Chen, Wen, Wanqing, Winqvist, Robert, Wu, Anna H, Yip, Cheng Har, Zamora, Pilar M, Zheng, Ying, Floris, Giuseppe, Cheng, Ching-Yu, Hooning, Maartje J, Martens, John WM, Seynaeve, Caroline, Kristensen, Vessela N, Hall, Per, Pharoah, Paul DP, Simard, Jacques, Chenevix-Trench, Georgia, Dunning, Alison M, Antoniou, Antonis C, Easton, Douglas F, Cai, Qiuyin, Long, Jirong (2016-09-15). Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer. INTERNATIONAL JOURNAL OF CANCER 139 (6) : 1303-1317. ScholarBank@NUS Repository. https://doi.org/10.1002/ijc.30150
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, r2 = 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.
Source Title: INTERNATIONAL JOURNAL OF CANCER
URI: https://scholarbank.nus.edu.sg/handle/10635/209196
ISSN: 00207136
10970215
DOI: 10.1002/ijc.30150
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