Arid
DOI10.1002/ijc.30150
Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Shi, Jiajun1; Zhang, Yanfeng1; Zheng, Wei1; Michailidou, Kyriaki2; Ghoussaini, Maya3; Bolla, Manjeet K.2; Wang, Qin2; Dennis, Joe3; Lush, Michael3; Milne, Roger L.4,5; Shu, Xiao-Ou1; Beesley, Jonathan6; Kar, Siddhartha3; Andrulis, Irene L.7,8; Anton-Culver, Hoda6,9; Arndt, Volker10; Beckmann, Matthias W.11; Zhao, Zhiguo1; Guo, Xingyi1; Benitez, Javier12,13; Beeghly-Fadiel, Alicia1; Blot, William1,14; Bogdanova, Natalia V.15; Bojesen, Stig E.16,17,18; Brauch, Hiltrud19,20,21; Brenner, Hermann10,21,22; Brinton, Louise23; Broeks, Annegien24; Bruening, Thomas25; Burwinkel, Barbara26,27; Cai, Hui1; Canisius, Sander28; Chang-Claude, Jenny29; Choi, Ji-Yeob30,31; Couch, Fergus J.32; Cox, Angela33; Cross, Simon S.34; Czene, Kamila35; Darabi, Hatef35; Devilee, Peter36,37; Droit, Arnaud38; Dork, Thilo39; Fasching, Peter A.11,40; Fletcher, Olivia41; Flyger, Henrik42; Fostira, Florentia43; Gaborieau, Valerie44; Garcia-Closas, Montserrat41,45; Giles, Graham G.4,5; Grip, Mervi46,47; Guenel, Pascal48,49; Haiman, Christopher A.50; Hamann, Ute51; Hartman, Mikael52,53; Miao, Hui52; Hollestelle, Antoinette54; Hopper, John L.55; Hsiung, Chia-Ni56; Investigators, KConFab57; Ito, Hidemi58; Jakubowska, Anna59; Johnson, Nichola41; Torres, Diana51,60; Kabisch, Maria51; Kang, Daehee30,31,61; Khan, Sofia62; Knight, Julia A.63,64; Kosma, Veli-Matti65,66,67; Lambrechts, Diether68,69; Li, Jingmei35; Lindblom, Annika70; Lophatananon, Artitaya71; Lubinski, Jan59; Mannermaa, Arto65,66,67; Manoukian, Siranoush72; Le Marchand, Loic73; Margolin, Sara74; Marme, Frederik75,76; Matsuo, Keitaro77; McLean, Catriona78; Meindl, Alfons55; Muir, Kenneth71,79; Neuhausen, Susan L.80; Nevanlinna, Heli62; Nord, Silje81,82; Borresen-Dale, Anne-Lise81,82; Olson, Janet E.83; Orr, Nick84; van den Ouweland, Ans M. W.85; Peterlongo, Paolo86; Putti, Thomas Choudary87; Rudolph, Anja29; Sangrajrang, Suleeporn88; Sawyer, Elinor J.89; Schmidt, Marjanka K.24; Schmutzler, Rita K.90,91,92,93; Shen, Chen-Yang94,95; Hou, Ming-Feng96,97; Shrubsole, Matha J.1; Southey, Melissa C.98; Swerdlow, Anthony99,100; Teo, Soo Hwang101,102; Thienpont, Bernard68,69; Toland, Amanda E.103; Tollenaar, Robert A. E. M.104; Tomlinson, Ian105,106; Truong, Therese48,49; Tseng, Chiu-Chen50; Wen, Wanqing1; Winqvist, Robert107,108; Wu, Anna H.50; Yip, Cheng Har102; Zamora, Pilar M.109; Zheng, Ying110; Floris, Giuseppe111; Cheng, Ching-Yu112; Hooning, Maartje J.54; Martens, John W. M.54; Seynaeve, Caroline54; Kristensen, Vessela N.81,82,113; Hall, Per35; Pharoah, Paul D. P.2,3; Simard, Jacques38; Chenevix-Trench, Georgia6,57; Dunning, Alison M.3; Antoniou, Antonis C.2; Easton, Douglas F.2,3; Cai, Qiuyin1; Long, Jirong1
通讯作者Cai, Qiuyin ; Long, Jirong
来源期刊INTERNATIONAL JOURNAL OF CANCER
ISSN0020-7136
EISSN1097-0215
出版年2016
卷号139期号:6页码:1303-1317
英文摘要

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 x 10(-6)), rs7815245 (OR=0.94, 95% CI=0.91-0.96, conditional p=1.1 x 10(-6)) and rs2033101 (OR=1.05, 95% CI=1.02-1.07, conditional p=1.1 x 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.


英文关键词breast cancer genetic susceptibility 8q24 fine-mapping single nucleotide polymorphism
类型Article
语种英语
国家USA ; England ; Australia ; Canada ; Germany ; Spain ; Denmark ; Netherlands ; South Korea ; Sweden ; Greece ; France ; Finland ; Singapore ; Taiwan ; Japan ; Poland ; Colombia ; Belgium ; Italy ; Norway ; Thailand ; Malaysia ; Peoples R China
收录类别SCI-E
WOS记录号WOS:000379915600015
WOS关键词GENOME-WIDE ASSOCIATION ; SUSCEPTIBILITY LOCI ; COLORECTAL-CANCER ; ANALYSES REVEAL ; GENE DESERT ; C-MYC ; EXPRESSION ; FOXA1 ; AMPLIFICATION ; DETERMINANT
WOS类目Oncology
WOS研究方向Oncology
来源机构University of London ; University of Oxford ; University of California, Los Angeles
资源类型期刊论文
条目标识符http://119.78.100.177/qdio/handle/2XILL650/193693
作者单位1.Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37212 USA;
2.Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England;
3.Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England;
4.Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia;
5.Univ Melbourne, Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia;
6.QIMR Berghofer Med Res Inst, Dept Genet, Brisbane, Qld, Australia;
7.Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON, Canada;
8.Univ Toronto, Dept Mol Genet, Toronto, ON, Canada;
9.Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA;
10.German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany;
11.Univ Erlangen Nurnberg, Univ Hosp Erlangen, Dept Obstet & Gynaecol, Erlangen, Germany;
12.Spanish Natl Canc Res Ctr, Human Canc Genet Program, Madrid, Spain;
13.Ctr Invest Red Enfermedades Raras, Valencia, Spain;
14.Int Epidemiol Inst, Rockville, MD USA;
15.Hannover Med Sch, Dept Radiat Oncol, Hannover, Germany;
16.Herlev Hosp, Copenhagen Gen Populat Study, Herlev, Denmark;
17.Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Herlev, Denmark;
18.Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark;
19.Dr Margarete Fischer Bosch Inst Clin Pharmacol, Stuttgart, Germany;
20.Univ Tubingen, Tubingen, Germany;
21.German Canc Consortium, German Canc Res Ctr DKFZ, Heidelberg, Germany;
22.German Canc Res Ctr, Div Prevent Oncol, Heidelberg, Germany;
23.NCI, Div Canc Epidemiol & Genet, Rockville, MD USA;
24.Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands;
25.German Social Accid Insurance, Inst Prevent & Occupat Med, Bochum, Germany;
26.German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany;
27.German Canc Res Ctr, Mol Epidemiol Grp, Heidelberg, Germany;
28.Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands;
29.German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany;
30.Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea;
31.Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea;
32.Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA;
33.Univ Sheffield, Dept Oncol, Sheffield Canc Res Ctr, Sheffield, S Yorkshire, England;
34.Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England;
35.Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden;
36.Leiden Univ, Med Ctr, Separtment Pathol, Leiden, Netherlands;
37.Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands;
38.Univ Laval, Quebec Res Ctr, Ctr Hosp Univ, Quebec City, PQ, Canada;
39.Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany;
40.Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA;
41.Inst Canc Res, Breakthrough Breast Canc Res Ctr, Div Canc Studies, London, England;
42.Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Herlev, Denmark;
43.Natl Ctr Sci Res Demokritos, IRRP, Mol Diagnost Lab, Athens, Greece;
44.Int Agcy Res Canc, Lyon, France;
45.Inst Canc Res, Div Genet & Epidemiol, London, England;
46.Oulu Univ Hosp, Dept Surg, Oulu, Finland;
47.Univ Oulu, Oulu, Finland;
48.INSERM, Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc, Villejuif, France;
49.Univ Paris 11, Villejuif, France;
50.Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA;
51.German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany;
52.Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore;
53.Natl Univ Hlth Syst, Dept Surg, Singapore, Singapore;
54.Erasmus MC Canc Inst, Dept Med Oncol, Rotterdam, Netherlands;
55.Tech Univ Munich, Div Gynaecol & Obstet, Munich, Germany;
56.Acad Sinica, Inst Biomed Sci, Taipei, Taiwan;
57.Univ Melbourne, Peter MacCallum Canc Ctr, East Melbourne, Vic, Australia;
58.Aichi Canc Ctr, Res Inst, Div Epidemiol & Prevent, Aichi, Japan;
59.Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland;
60.Pontificia Univ Javeriana, Inst Human Genet, Bogota, Colombia;
61.Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea;
62.Univ Helsinki, Helsinki Univ Cent Hosp, Dept Obstet & Gynecol, Helsinki, Finland;
63.Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Prosserman Ctr Hlth Res, Toronto, ON, Canada;
64.Univ Toronto, Dalla Lana Sch Publ Hlth, Div Epidemiol, Toronto, ON, Canada;
65.Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Sch Med, Kuopio 70210, Finland;
66.Univ Eastern Finland, Canc Ctr Eastern Finland, Kuopio 70210, Finland;
67.Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, SF-70210 Kuopio, Finland;
68.Vesalius Res Ctr, Leuven, Belgium;
69.Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium;
70.Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden;
71.Univ Warwick, Warwick Med Sch, Div Hlth Sci, Coventry, W Midlands, England;
72.Fdn IRCCS Ist Nazl Tumori INT, Dept Prevent & Predict Med, Unit Med Genet, Milan, Italy;
73.Univ Hawaii, Ctr Canc, Honolulu, HI 96822 USA;
74.Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden;
75.Heidelberg Univ, Natl Ctr Tumor Dis, Heidelberg, Germany;
76.Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany;
77.Kyushu Univ, Fac Med Sci, Dept Prevent Med, Fukuoka, Japan;
78.Alfred Hosp, Anat Pathol, Melbourne, Vic, Australia;
79.Univ Manchester, Inst Populat Hlth, Manchester, Lancs, England;
80.City Hope Natl Med Ctr, Beckman Res Inst, Duarte, CA USA;
81.Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway;
82.Univ Oslo, Fac Med, Inst Clin Med, KG Jebsen Ctr Breast Canc Res, Oslo, Norway;
83.Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA;
84.Inst Canc Res, Div Breast Canc Res, London, England;
85.Erasmus Univ, Med Ctr, Dept Clin Genet, Rotterdam, Netherlands;
86.FIRC Inst Mol Oncol, IFOM, Milan, Italy;
87.Natl Univ Hlth Syst, Dept Pathol, Singapore, Singapore;
88.Natl Canc Inst, Bangkok, Thailand;
89.Kings Coll London, Guys Hosp, Res Oncol, London, England;
90.Univ Hosp Cologne, Dept Obstet & Gynaecol, Div Mol Gynecooncol, Cologne, Germany;
91.Univ Hosp Cologne, Ctr Integrated Oncol, Cologne, Germany;
92.Univ Hosp Cologne, Ctr Mol Med, Cologne, Germany;
93.Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany;
94.China Med Univ, Sch Publ Hlth, Taichung, Taiwan;
95.Acad Sinica, Inst Biomed Sci, Taiwan Biobank, Taipei 115, Taiwan;
96.Kaohsiung Med Univ, Chung Ho Mem Hosp, Ctr Canc, Kaohsiung, Taiwan;
97.Kaohsiung Med Univ, Chung Ho Mem Hosp, Dept Surg, Kaohsiung, Taiwan;
98.Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia;
99.Inst Canc Res, Div Genet & Epidemiol, London, England;
100.Inst Canc Res, Div Breast Canc Res, London, England;
101.Canc Res Initiat Fdn, Subang Jaya, Selangor, Malaysia;
102.Univ Malaya, Med Ctr, Canc Res Inst, Breast Canc Res Unit, Kuala Lumpur, Malaysia;
103.Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA;
104.Leiden Univ, Med Ctr, Dept Surg Oncol, Leiden, Netherlands;
105.Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England;
106.Univ Oxford, Oxford Biomed Res Ctr, Oxford, England;
107.Univ Oulu, Dept Clin Chem, Lab Canc Genet & Tumor Biol, Oulu, Finland;
108.Northern Finland Lab Ctr NordLab, Lab Canc Genet & Tumor Biol, Oulu, Finland;
109.Hosp Univ La Paz, Med Oncol Serv, Madrid, Spain;
110.Shanghai Municipal Ctr Dis Control & Prevent, Shanghai, Peoples R China;
111.Univ Hosp Gashuisberg, Leuven, Belgium;
112.Natl Univ Singapore, Singapore Eye Res Inst, Singapore, Singapore;
113.Univ Oslo UiO, Akershus Univ Hosp, Dept Clin Mol Biol EpiGen, Oslo, Norway
推荐引用方式
GB/T 7714
Shi, Jiajun,Zhang, Yanfeng,Zheng, Wei,et al. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer[J]. University of London, University of Oxford, University of California, Los Angeles,2016,139(6):1303-1317.
APA Shi, Jiajun.,Zhang, Yanfeng.,Zheng, Wei.,Michailidou, Kyriaki.,Ghoussaini, Maya.,...&Long, Jirong.(2016).Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer.INTERNATIONAL JOURNAL OF CANCER,139(6),1303-1317.
MLA Shi, Jiajun,et al."Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer".INTERNATIONAL JOURNAL OF CANCER 139.6(2016):1303-1317.
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