University of Oulu

Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F. et al. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun 10, 1741 (2019). https://doi.org/10.1038/s41467-018-08053-5

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Saved in:
Author: Ferreira, Manuel A.1; Gamazon, Eric R.2,3; Al-Ejeh, Fares1;
Aittomaki, Kristiina4; Andrulis, Irene L.5,6; Anton-Culver, Hoda7; Arason, Adalgeir8,9; Arndt, Volker10; Aronson, Kristan J.11,12; Arun, Banu K.13; Asseryanis, Ella14,15; Azzollini, Jacopo16; Balmana, Judith17,18; Barnes, Daniel R.19; Barrowdale, Daniel19; Beckmann, Matthias W.20; Behrens, Sabine21; Benitez, Javier22,23; Bermisheva, Marina24; Bialkowska, Katarzyna25; Blomqvist, Carl26,27; Bogdanova, Natalia, V28,29,30; Bojesen, Stig E.31,32,33; Bolla, Manjeet K.19; Borg, Ake34,35; Brauch, Hiltrud36,37,38; Brenner, Hermann10,38,39,40; Broeks, Annegien41; Burwinkel, Barbara42,43; Caldes, Trinidad44; Caligo, Maria A.45; Campa, Daniele21,46; Campbell, Ian47,48; Canzian, Federico49; Carter, Jonathan50; Carter, Brian D.51; Castelao, Jose E.52; Chang-Claude, Jenny21,53; Chanock, Stephen J.54; Christiansen, Hans28; Chung, Wendy K.55,56; Claes, Kathleen B. M.57; Clarke, Christine L.58; Couch, Fergus J.59; Cox, Angela60; Cross, Simon S.61; Czene, Kamila62; Daly, Mary B.63; de la Hoya, Miguel44; Dennis, Joe19; Devilee, Peter64,65; Diez, Orland17,66; Doerk, Thilo29; Dunning, Alison M.67; Dwek, Miriam68; Eccles, Diana M.69; Ejlertsen, Bent70; Ellberg, Carolina71; Engel, Christoph72; Eriksson, Mikael62; Fasching, Peter A.20,73; Fletcher, Olivia74; Flyger, Henrik75; Friedman, Eitan76,77; Frost, Debra19; Gabrielson, Marike62; Gago-Dominguez, Manuela78,79; Ganz, Patricia A.80,81; Gapstur, Susan M.51; Garber, Judy82; Garcia-Closas, Montserrat54,83; Garcia-Saenz, Jose A.84; Gaudet, Mia M.51; Giles, Graham G.85,86,87; Glendon, Gord5; Godwin, Andrew K.88; Goldberg, Mark S.89,90; Goldgar, David E.91; Gonzalez-Neira, Anna23; Greene, Mark H.92; Gronwald, Jacek25; Guenel, Pascal93; Haiman, Christopher A.94; Hall, Per62,95; Hamann, Ute96; He, Wei62; Heyworth, Jane97; Hogervorst, Frans B. L.98; Hollestelle, Antoinette99; Hoover, Robert N.54; Hopper, John L.86; Hulick, Peter J.100,101; Humphreys, Keith62; Imyanitov, Evgeny N.102; Isaacs, Claudine103; Jakimovska, Milena104; Jakubowska, Anna25,105; James, Paul A.48,106; Janavicius, Ramunas107; Jankowitz, Rachel C.108; John, Esther M.109; Johnson, Nichola74; Joseph, Vijai110; Karlan, Beth Y.111; Khusnutdinova, Elza24,112; Kiiski, Johanna, I113; Ko, Yon-Dschun114; Jones, Michael E.83; Konstantopoulou, Irene115; Kristensen, Vessela N.116,117; Laitman, Yael76; Lambrechts, Diether118,119; Lazaro, Conxi120; Leslie, Goska19; Lester, Jenny111; Lesueur, Fabienne121,122,123; Lindstrom, Sara124,125; Long, Jirong126; Loud, Jennifer T.92; Lubinski, Jan25; Makalic, Enes86; Mannermaa, Arto127,128,129; Manoochehri, Mehdi96; Margolin, Sara95,130; Maurer, Tabea53; Mavroudis, Dimitrios131; McGuffog, Lesley19; Meindl, Alfons132; Menon, Usha133; Michailidou, Kyriaki19,134,135; Miller, Austin136; Montagna, Marco137; Moreno, Fernando84; Moserle, Lidia137; Mulligan, Anna Marie138,139; Nathanson, Katherine L.140; Neuhausen, Susan L.141; Nevanlinna, Heli113; Nevelsteen, Ines142; Nielsen, Finn C.143; Nikitina-Zake, Liene144; Nussbaum, Robert L.145; Offit, Kenneth110,146; Olah, Edith147; Olopade, Olufunmilayo, I148; Olsson, Hakan71; Osorio, Ana22,23; Papp, Janos147; Park-Simon, Tjoung-Won29; Parsons, Michael T.1; Pedersen, Inge Sokilde149,150,151; Peixoto, Ana152; Peterlongo, Paolo153; Pharoah, Paul D. P.19,67; Plaseska-Karanfilska, Dijana104; Poppe, Bruce57; Presneau, Nadege68; Radice, Paolo154; Rantala, Johanna155; Rennert, Gad156,157; Risch, Harvey A.158; Saloustros, Emmanouil159; Sanden, Kristin160; Sawyer, Elinor J.161; Schmidt, Marjanka K.41,162; Schmutzler, Rita K.163,164,165; Sharma, Priyanka166; Shu, Xiao-Ou126; Simard, Jacques167; Singer, Christian F.14,15; Soucy, Penny167; Southey, Melissa C.168,169; Spinelli, John J.170,171; Spurdle, Amanda B.1; Stone, Jennifer86,172,173; Swerdlow, Anthony J.83,174; Tapper, William J.69; Taylor, Jack A.175,176; Teixeira, Manuel R.152,177; Terry, Mary Beth178; Teule, Alex179; Thomassen, Mads180; Thoene, Kathrin53; Thull, Darcy L.181; Tischkowitz, Marc182,183,184; Toland, Amanda E.185; Torres, Diana96,186; Truong, Therese93; Tung, Nadine187; Vachon, Celine M.188; van Asperen, Christi J.189; van den Ouweland, Ans M. W.190; van Rensburg, Elizabeth J.191; Vega, Ana192; Viel, Alessandra193; Wang, Qin19; Wappenschmidt, Barbara163,164,165; Weitzel, Jeffrey N.194; Wendt, Camilla130; Winqvist, Robert195,196; Yang, Xiaohong R.54; Yannoukakos, Drakoulis115; Ziogas, Argyrios7; Kraft, Peter197,198; Antoniou, Antonis C.19; Zheng, Wei126; Easton, Douglas F.19,67; Milne, Roger L.85,86,168; Beesley, Jonathan1; Chenevix-Trench, Georgia1; Arnold, Norbert199,200; Auber, Bernd201; Bogdanova-Markov, Nadja202; Borde, Julika163,164,165,203,204; Caliebe, Almuth205; Ditsch, Nina132; Dworniczak, Bernd202; Engert, Stefanie206; Faust, Ulrike207; Gehrig, Andrea208; Hahnen, Eric163,164,165; Hauke, Jan163,164,165; Hentschel, Julia209; Herold, Natalie163,164,165,203,204; Honisch, Ellen210; Just, Walter211; Kast, Karin212; Larsen, Mirjam163,164,165; Lemke, Johannes209; Huu Phuc Nguyen207; Niederacher, Dieter210; Ott, Claus-Eric213; Platzer, Konrad209; Pohl-Rescigno, Esther163,164,165; Ramser, Juliane206; Rhiem, Kerstin163,164,165; Steinemann, Doris201; Sutter, Christian214; Varon-Mateeva, Raymonda213; Wang-Gohrke, Shan215; Weber, Bernhard H. F.216; Prieur, Fabienne217; Pujol, Pascal218; Sagne, Charlotte219; Sevenet, Nicolas220; Sobol, Hagay221,222; Sokolowska, Johanna223; Stoppa-Lyonnet, Dominique224,225,226; Venat-Bouvet, Laurence227; Adlard, Julian228; Ahmed, Munaza229; Barwell, Julian230; Brady, Angela231; Brewer, Carole232; Cook, Jackie233; Davidson, Rosemarie234; Donaldson, Alan235; Eason, Jacqueline236; Eeles, Ros237,238; Evans, D. Gareth239,240; Gregory, Helen241,242; Hanson, Helen243; Henderson, Alex244; Hodgson, Shirley245; Izatt, Louise246; Kennedy, M. John247,248; Lalloo, Fiona240; Miller, Clare249; Morrison, Patrick J.250; Ong, Kai-ren251; Perkins, Jo19; Porteous, Mary E.252; Rogers, Mark T.253; Side, Lucy E.254; Snape, Katie255; Walker, Lisa256; Harrington, Patricia A.67; Heemskerk-Gerritsen, Bernadette A. M.99; Rookus, Matti A.257; Seynaeve, Caroline M.99; van der Baan, Frederieke H.257; van der Hout, Annemieke H.258; van der Kolk, Lizet E.98; van der Luijt, Rob B.259; van Deurzen, Carolien H. M.260; van Doorn, Helena C.261; van Engelen, Klaartje262; van Hest, Liselotte263; van Os, Theo A. M.264; Verhoef, Senno98; Vogel, Maartje J.265; Wijnen, Juul T.65,189; Miron, Alexander266,267; Kapuscinski, Miroslav86; Bane, Anita268; Ross, Eric269; Buys, Saundra S.270; Conner, Thomas A.271; Balleine, Rosemary272; Baxter, Robert273; Braye, Stephen274; Carpenter, Jane275; Dahlstrom, Jane276,277; Forbes, John278,279; Lee, Soon C.280; Marsh, Deborah273; Morey, Adrienne281; Pathmanathan, Nirmala282; Simpson, Peter283,284; Spigelman, Allan285; Wilcken, Nicholas286; Yip, Desmond287
Organizations: 1QIMR Berghofer Med Res Inst, Dept Genet & Computat Biol, Brisbane, Qld 4006, Australia.
2Vanderbilt Univ, Dept Med, Div Genet Med, Nashville, TN 37235 USA.
3Univ Cambridge, Clare Hall, Cambridge CB3 9AL, England.
4Univ Helsinki, Helsinki Univ Hosp, Dept Clin Genet, Helsinki 00290, Finland.
5Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Fred A Litwin Ctr Canc Genet, Toronto, ON M5G 1X5, Canada.
6Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada.
7Univ Calif Irvine, Genet Epidemiol Res Inst, Dept Epidemiol, Irvine, CA 92617 USA.
8Landspitali Univ Hosp, Dept Pathol, IS-101 Reykjavik, Iceland.
9Univ Iceland, Fac Med, BMC Biomed Ctr, IS-101 Reykjavik, Iceland.
10German Canc Res Ctr, Div Clin Epidemiol & Aging Res, C070, D-69120 Heidelberg, Germany.
11Queens Univ, Dept Publ Hlth Sci, Kingston, ON K7L 3N6, Canada.
12Queens Univ, Canc Res Inst, Kingston, ON K7L 3N6, Canada.
13Univ Texas MD Anderson Canc Ctr, Dept Breast Med Oncol, Houston, TX 77030 USA.
14Med Univ Vienna, Dept OB GYN, A-1090 Vienna, Austria.
15Med Univ Vienna, Comprehens Canc Ctr, A-1090 Vienna, Austria.
16Fdn IRCCS Ist Nazl Tumori INT, Dept Med Oncol & Hematol, Unit Med Genet, I-20133 Milan, Italy.
17VHIO, Oncogenet Grp, Barcelona 8035, Spain.
18Univ Hosp, VHIO, Dept Med Oncol, Barcelona 08035, Spain.
19Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Publ Hlth & Primary Care, Cambridge CB1 8RN, England.
20Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Comprehens Canc Ctr ER EMN, Dept Gynecol & Obstet, D-91054 Erlangen, Germany.
21German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany.
22Ctr Invest Red Enfermedades Raras CIBERER, Valencia 46010, Spain.
23Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Programme, Madrid 28029, Spain.
24Russian Acad Sci, Ufa Fed Res Ctr, Inst Biochem & Genet, Ufa 450054, Russia.
25Pomeranian Med Univ, Dept Genet & Pathol, PL-71252 Szczecin, Poland.
26Univ Helsinki, Helsinki Univ Hosp, Dept Oncol, FIN-00290 Helsinki, Finland.
27Orebro Univ Hosp, Dept Oncol, S-70185 Orebro, Sweden.
28Hannover Med Sch, Dept Radiat Oncol, D-30625 Hannover, Germany.
29Hannover Med Sch, Gynaecol Res Unit, D-30625 Hannover, Germany.
30NN Alexandrov Res Inst Oncol & Med Radiol, Minsk 223040, BELARUS.
31Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Copenhagen Gen Populat Study, DK-2730 Herlev, Denmark.
32Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, DK-2730 Herlev, Denmark.
33Univ Copenhagen, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark.
34Lund Univ, Dept Oncol, S-22241 Lund, Sweden.
35Skane Univ Hosp, S-22241 Lund, Sweden.
36Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-70376 Stuttgart, Germany.
37Univ Tubingen, D-72074 Tubingen, Germany.
38German Canc Res Ctr, German Canc Consortium DKTK, D-69120 Heidelberg, Germany.
39German Canc Res Ctr, Div Prevent Oncol, D-69120 Heidelberg, Germany.
40Natl Ctr Tumor Dis NCT, D-69120 Heidelberg, Germany.
41Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Mol Pathol, NL-1066 CX Amsterdam, Netherlands.
42German Canc Res Ctr, Mol Epidemiol Grp, C080, D-69120 Heidelberg, Germany.
43Heidelberg Univ, Univ Womens Clin Heidelberg, Mol Biol Breast Canc, D-69120 Heidelberg, Germany.
44Hosp Clin San Carlos, IdISSC Inst Invest Sanitaria, CIBERONC, Mol Oncol Lab, Madrid 28040, Spain.
45Univ Hosp Pisa, Dept Lab Med, Sect Mol Genet, I-56126 Pisa, Italy.
46Univ Pisa, Dept Biol, I-56126 Pisa, Italy.
47Peter MacCallum Canc Ctr, Res Dept, Melbourne, Vic 3000, Australia.
48Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic 3000, Australia.
49German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany.
50Chris OBrien Lifehouse & Univ Sydney, Dept Gynaecol Oncol, Camperdown, NSW 2050, Australia.
51Amer Canc Soc, Behav & Epidemiol Res Grp, Atlanta, GA 30303 USA.
52Xerencia Xest Integrada Vigo SERGAS, IISGS, Oncol & Genet Unit, Vigo 36312, Spain.
53Univ Med Ctr Hamburg Eppendorf, UCCH, Canc Epidemiol Grp, D-20246 Hamburg, Germany.
54NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20850 USA.
55Columbia Univ, Dept Pediat, New York, NY 10032 USA.
56Columbia Univ, Dept Med, New York, NY 10032 USA.
57Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium.
58Univ Sydney, Westmead Inst Med Res, Sydney, NSW 2145, Australia.
59Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA.
60Univ Sheffield, Sheffield Inst Nucle Acids SInFoNiA, Dept Oncol & Metab, Sheffield S10 2TN, S Yorkshire, England.
61Univ Sheffield, Acad Unit Pathol, Dept Neurosci, Sheffield S10 2TN, S Yorkshire, England.
62Karolinska Inst, Dept Med Epidemiol & Biostat, S-17165 Stockholm, Sweden.
63Fox Chase Canc Ctr, Dept Clin Genet, Philadelphia, PA 19111 USA.
64Leiden Univ, Dept Pathol, Med Ctr, NL-2333 ZA Leiden, Netherlands.
65Leiden Univ, Dept Human Genet, Med Ctr, NL-2333 ZA Leiden, Netherlands.
66Univ Hosp Vall dHebron, Clin & Mol Genet Area, Barcelona 08035, Spain.
67Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge CB1 8RN, England.
68Univ Westminster, Fac Sci & Technol, Dept Biomed Sci, London W1B 2HW, England.
69Univ Southampton, Fac Med, Southampton SO17 1BJ, Hants, England.
70Copenhagen Univ Hosp, Rigshosp, Dept Oncol, DK-2100 Copenhagen, Denmark.
71Lund Univ, Dept Canc Epidemiol, Clin Sci, S-22242 Lund, Sweden.
72Univ Leipzig, Inst Med Informat Stat & Epidemiol, D-04107 Leipzig, Germany.
73Univ Calif Los Angeles, Dept Med Div Hematol & Oncol, David Geffen Sch Med, Los Angeles, CA 90095 USA.
74Inst Canc Res, Breast Canc Now Toby Robins Res Ctr, London SW7 3RP, England.
75Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Breast Surg, DK-2730 Herlev, Denmark.
76Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Ramat Gan, Israel.
77Tel Aviv Univ, Sackler Fac Med, IL-69978 Ramat Aviv, Israel.
78Complejo Hosp Univ Santiago, SERGAS, Inst Invest Sanitaria Santiago de Compostela IDIS, Genom Med Grp,Galician Fdn Genom Med, Santiago De Compostela 15706, Spain.
79Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92037 USA.
80UCLA, Jonsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Sch Med, Los Angeles, CA 90096 USA.
81UCLA, Jonsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Sch Publ Hlth, Los Angeles, CA 90096 USA.
82Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02215 USA.
83Inst Canc Res, Div Genet & Epidemiol, London SM2 5NG, England.
84Ctr Invest Biomed Red Canc CIBERONC, IdISSC, Hosp Clin San Carlos, Med Oncol Dept, Madrid 28040, Spain.
85Canc Council Victoria, Canc Epidemiol & Intelligence Div, Melbourne, Vic 3004, Australia.
86Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic 3010, Australia.
87Monash Univ, Dept Epidemiol & Prevent Med, Melbourne, Vic 3004, Australia.
88Kansas Univ, Dept Pathol & Lab Med, Med Ctr, Kansas City, KS 66160 USA.
89McGill Univ, Dept Med, Montreal, PQ H4A 3J1, Canada.
90McGill Univ, Royal Victoria Hosp, Div Clin Epidemiol, Montreal, PQ H4A 3J1, Canada.
91Univ Utah, Sch Med, Huntsman Canc Inst, Dept Dermatol, Salt Lake City, UT 84112 USA.
92NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20850 USA.
93Univ Paris Saclay, Univ Paris Sud, INSERM, Canc & Environm Grp,Ctr Res Epidemiol & Populat H, F-94805 Villejuif, France.
94Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA.
95Soder Sjukhuset, Dept Oncol, S-11883 Stockholm, Sweden.
96German Canc Res Ctr, Mol Genet Breast Canc, D-69120 Heidelberg, Germany.
97Univ Western Australia, Sch Populat & Global Hlth, Perth, WA 6009, Australia.
98Antoni van Leeuwenhoek hosp, Netherlands Canc Inst, Family Canc Clin, NL-1066 CX Amsterdam, Netherlands.
99Erasmus MC Canc Inst, Family Canc Clin, Dept Med Oncol, NL-3015 CN Rotterdam, Netherlands.
100NorthShore Univ Hlth Syst, Ctr Med Genet, Evanston, IL 60201 USA.
101Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA.
102NN Petrov Inst Oncol St, St Petersburg 197758, Russia.
103Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC 20007 USA.
104Macedonian Acad Sci & Arts, Res Ctr Genet Engn & Biotechnol Georgi D Efremov, Skopje 1000, Macedonia.
105Pomeranian Med Univ, Independent Lab Mol Biol & Genet Diagnost, PL-71252 Szczecin, Poland.
106Peter MacCallum Canc Ctr, Parkville Familial Canc Ctr, Melbourne, Vic 3000, Australia.
107Vilnius Univ Hosp Santariskiu Clin, Dept Mol & Regenerat Med, Hematol Oncol & Transfus Med Ctr, LT-08410 Vilnius, Lithuania.
108Univ Pittsburgh, UPMC Hillman Canc Ctr, Dept Med, Sch Med,Div Hematol Oncol, Pittsburgh, PA 15232 USA.
109Stanford Univ, Sch Med, Stanford Canc Inst, Dept Med,Div Oncol, Stanford, CA 94304 USA.
110Mem Sloan Kettering Canc Ctr, Dept Canc Biol & Genet, Clin Genet Res Lab, New York, NY 10065 USA.
111Univ Calif Los Angeles, David Geffen Sch Med, Dept Obstet & Gynecol, Los Angeles, CA 90095 USA.
112Bashkir State Med Univ, Dept Genet & Fundamental Med, Ufa 450076, Russia.
113Univ Helsinki, Helsinki Univ Hosp, Dept Obstet & Gynecol, FIN-00290 Helsinki, Finland.
114Evangel Kliniken Bonn gGmbH, Johanniter Krankenhaus, Dept Internal Med, D-53177 Bonn, Germany.
115Natl Ctr Sci Res Demokritos, Mol Diagnost Lab, INRASTES, Athens 15310, Greece.
116Oslo Univ Hosp Radiumhosp, Inst Canc Res, Dept Canc Genet, N-0379 Oslo, Norway.
117Univ Oslo, Fac Med, Inst Clin Med, N-0450 Oslo, Norway.
118VIB, VIB Ctr Canc Biol, B-3001 Leuven, Belgium.
119Univ Leuven, Dept Human Genet, Lab Translat Genet, B-3000 Leuven, Belgium.
120CIBERONC, Catalan Inst Oncol, ICO IDIBELL Bellvitge Biomed Res Inst, Mol Diagnost Unit,Hereditary Canc Program, Barcelona 08908, Spain.
121Inserm U900, Genet Epidemiol Canc Team, F-75005 Paris, France.
122Inst Curie, F-75005 Paris, France.
123Mines ParisTech, F-77305 Fontainebleau, France.
124Univ Washington, Dept Epidemiol, Sch Publ Hlth, Seattle, WA 98195 USA.
125Fred Hutchinson Canc Res Ctr, Publ Hlth Sci Div, Seattle, WA 98109 USA.
126Vanderbilt Univ, Vanderbilt Ingram Canc Ctr, Vanderbilt Epidemiol Ctr, Div Epidemiol,Dept Med,Sch Med, Nashville, TN 37232 USA.
127Univ Eastern Finland, Translat Canc Res Area, Kuopio 70210, Finland.
128Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio 70210, Finland.
129Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, Kuopio 70210, Finland.
130Karolinska Inst, Sodersjukhuset, Dept Clin Sci & Educ, S-11883 Stockholm, Sweden.
131Univ Hosp Heraklion, Dept Med Oncol, Iraklion 71110, Greece.
132Univ Munich, Dept Gynecol & Obstet, Campus Grosshadern, D-81377 Munich, Germany.
133UCL, Inst Clin Trials & Methodol, MRC Clin Trials Unit UCL, London WC1V 6LJ, England.
134Cyprus Inst Neurol & Genet, Dept Electron Microscopy Mol Pathol, CY-1683 Nicosia, Cyprus.
135Cyprus Inst Neurol & Genet, Cyprus Sch Mol Med, CY-1683 Nicosia, Cyprus.
136Roswell Pk Canc Inst, NRG Oncol Stat & Data Management Ctr, Buffalo, NY 14263 USA.
137Veneto Inst Oncol IOV IRCCS, Immunol & Mol Oncol Unit, I-35128 Padua, Italy.
138Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5S 1A8, Canada.
139Univ Hlth Network, Lab Med Program, Toronto, ON M5G 2C4, Canada.
140Univ Penn, Abramson Canc Ctr, Basser Ctr BRCA, Philadelphia, PA 19066 USA.
141City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA.
142Univ Hosp Leuven, Leuven Multidisciplinary Breast Ctr, Leuven Canc Inst, Dept Oncol, B-3000 Leuven, Belgium.
143Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, DK-2100 Copenhagen, Denmark.
144Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia.
145Univ Calif San Francisco, Canc Genet & Prevent Program, San Francisco, CA 94143 USA.
146Mem Sloan Kettering Canc Ctr, Dept Med, Clin Genet Serv, New York, NY 10065 USA.
147Natl Inst Oncol, Dept Mol Genet, H-1122 Budapest, Hungary.
148Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 USA.
149Aalborg Univ Hosp, Mol Diagnost, DK-9000 Aalborg, Denmark.
150Aalborg Univ Hosp, Clin Canc Res Ctr, DK-9000 Aalborg, Denmark.
151Aalborg Univ, Dept Clin Med, DK-9000 Aalborg, Denmark.
152Portuguese Oncol Inst, Dept Genet, P-4220072 Porto, Portugal.
153Inst Mol Oncol, IFOM FIRC Italian Fdn Canc Res, Genome Diagnost Program, I-20139 Milan, Italy.
154Fdn IRCCS Ist Nazl Tumori INT, Dept Res, Unit Mol Bases Genet Risk & Genet Testing, I-20133 Milan, Italy.
155Karolinska Inst, Clin Genet, S-17176 Stockholm, Sweden.
156Carmel Hosp, Clalit Natl Canc Control Ctr, IL-35254 Haifa, Israel.
157Technion Fac Med, IL-35254 Haifa, Israel.
158Yale Sch Publ Hlth, Chron Dis Epidemiol, New Haven, CT 06510 USA.
159Univ Hosp Larissa, Dept Oncol, Larisa 41110, Greece.
160City Hope Natl Med Ctr, Clin Canc Genet Community Res Network, Duarte, CA 91010 USA.
161Kings Coll London, Guys Hosp, Res Oncol, London SE1 9RT, England.
162Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, NL-1066 CX Amsterdam, Netherlands.
163Univ Cologne, Fac Med, Ctr Hereditary Breast & Ovarian Canc, D-50937 Cologne, Germany.
164Univ Cologne, Univ Hosp Cologne, D-50937 Cologne, Germany.
165Univ Cologne, Fac Med, CIO, D-50937 Cologne, Germany.
166Univ Kansas, Dept Internal Med, Div Oncol, Med Ctr, Westwood, KS 66205 USA.
167Univ Laval, Res Ctr, Ctr Hosp Univ Quebec, Genom Ctr, Quebec City, PQ G1V 4G2, Canada.
168Monash Univ, Sch Clin Sci Monash Hlth, Precis Med, Clayton, Vic 3168, Australia.
169Univ Melbourne, Dept Clin Pathol, Melbourne, Vic 3010, Australia.
170BC Canc, Populat Oncol, Vancouver, BC V5Z 1G1, Canada.
171Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC V6T 1Z4, Canada.
172Curtin Univ, Curtin UWA Ctr Genet Origins Hlth & Dis, Perth, WA 6000, Australia.
173Univ Western Australia, Perth, WA 6000, Australia.
174Inst Canc Res, Div Breast Canc Res, London SW7 3RP, England.
175NIEHS, Epidemiol Branch, NIH, Res Triangle Pk, NC 27709 USA.
176NIEHS, Epigenet & Stem Cell Biol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA.
177Univ Porto, Biomed Sci Inst ICBAS, P-4050013 Porto, Portugal.
178Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA.
179CIBERONC, Catalan Inst Oncol, IDIBELL Bellvitge Biomed Res Inst, Genet Counseling Unit,Hereditary Canc Program, Barcelona 08908, Spain.
180Odense Univ Hosp, Dept Clin Genet, DK-5000 Odence C, Denmark.
181Univ Pittsburgh, Magee Womens Hosp, Dept Med, Sch Med, Pittsburgh, PA 15213 USA.
182McGill Univ, Dept Human Genet, Program Canc Genet, Montreal, PQ H4A 3J1, Canada.
183McGill Univ, Dept Oncol, Program Canc Genet, Montreal, PQ H4A 3J1, Canada.
184Univ Cambridge, Dept Med Genet, Cambridge CB2 0QQ, England.
185Ohio State Univ, Dept Canc Biol & Genet, Columbus, OH 43210 USA.
186Pontificia Univ Javeriana, Inst Human Genet, Bogota 110231, Colombia.
187Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA.
188Mayo Clin, Div Epidemiol, Dept Hlth Sci Res, Rochester, MN 55905 USA.
189Leiden Univ, Dept Clin Genet, Med Ctr, NL-2333 ZA Leiden, Netherlands.
190Erasmus Univ, Dept Clin Genet, Med Ctr, NL-3015 CN Rotterdam, Netherlands.
191Univ Pretoria, Dept Genet, ZA-0007 Arcadia, South Africa.
192IDIS, CIBERER, Grp Med Xenom USC, Fdn Publ Galega Med Xenom SERGAS, Santiago De Compostela, Spain.
193IRCCS, Ctr Riferimento Oncol Aviano CRO, Div Funct OncoGenom & Genet, I-33081 Aviano, Italy.
194City Hope Natl Med Ctr, Clin Canc Genom, Duarte, CA 91010 USA.
195Univ Oulu, Bioctr Oulu, Canc & Translat Med Res Unit, Lab Canc Genet & Tumor Biol, FIN-90570 Oulu, Finland.
196Northern Finland Lab Ctr Oulu, Lab Canc Genet & Tumor Biol, Oulu 90570, Finland.
197Harvard TH Chan Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, Boston, MA 02115 USA.
198Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.
199Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, D-24118 Kiel, Germany.
200Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Inst Clin Mol Biol, Campus Kiel, D-24118 Kiel, Germany.
201Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany.
202Univ Munster, Inst Human Genet, D-48149 Munster, Germany.
203Univ Cologne, Fac Med, CMMC, D-50931 Cologne, Germany.
204Univ Cologne, Univ Hosp Cologne, D-50931 Cologne, Germany.
205Christian Albrechts Univ Kiel, Univ Hosp Schleswig Holstein, Inst Human Genet, Campus Kiel, D-24118 Kiel, Germany.
206Techn Univ Munchen, Klinikum Rechts Isar, Div Gynaecol & Obstet, D-80333 Munich, Germany.
207Univ Tubingen, Inst Med Genet & Appl Genom, D-72074 Tubingen, Germany.
208Univ Wurzburg, Dept Human Genet, D-97074 Wurzburg, Germany.
209Univ Hosp Leipzig, Inst Human Genet, D-04103 Leipzig, Germany.
210Heinrich Heine Univ Dusseldorf, Univ Hosp Dusseldorf, Dept Gynecol & Obstet, D-40225 Dusseldorf, Germany.
211Univ Hosp Ulm, Inst Human Genet, D-89075 Ulm, Germany.
212Tech Univ Dresden, Dept Gynecol & Obstet, D-01307 Dresden, Germany.
213Charite, Inst Human Genet, Campus Virchov Klinikum, D-13353 Berlin, Germany.
214Univ Hosp Heidelberg, Inst Human Genet, D-69120 Heidelberg, Germany.
215Univ Hosp Ulm, Dept Gynaecol & Obstet, D-89075 Ulm, Germany.
216Univ Regensburg, Inst Human Genet, D-93053 Regensburg, Germany.
217CHU St Etienne, Hop Nord, Serv Genet Clin Chromosom & Mol, F-42270 St Etienne, France.
218CHU Arnaud de Villeneuve, Unite Oncogenet, F-34295 Montpellier, France.
219Ctr Leon Berard, Batiment Cheney D, F-69373 Lyon, France.
220Inst Bergonie, Oncogenet, F-33076 Bordeaux, France.
221Inst Paoli Calmettes, Dept Oncol Genet Prevent & Depistage, F-13009 Marseille, France.
222Aix Marseille Univ, Marseille Med Sch, F-13007 Marseille, France.
223Nancy Univ, Ctr Hosp Reg & Univ, Lab Genet Med, F-54511 Vandoeuvre Les Nancy, France.
224Inst Curie, Serv Genet, F-75005 Paris, France.
225INSERM U830, Dept Tumour Biol, F-75005 Paris, France.
226Univ Paris 05, F-75006 Paris, France.
227CHU Dupuytren, Dept Med Oncol, F-87042 Limoges, France.
228Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds LS7 4SA, W Yorkshire, England.
229Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England.
230Univ Hosp Leicester NHS Trust, Leicestershire Clin Genet Serv, Leicester LE1 5WW, Leics, England.
231North West London Hosp NHS Trust, Kennedy Galton Ctr, North West Thames Reg Genet Serv, Harrow HA1 3UJ, Middx, England.
232Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter EX2 5DW, Devon, England.
233Sheffield Childrens Hosp, Sheffield Clin Genet Serv, Sheffield S10 2TH, S Yorkshire, England.
234South Glasgow Univ Hosp, Dept Clin Genet, Glasgow G51 4TF, Lanark, Scotland.
235St Michaels Hosp, Clin Genet Dept, Bristol BS2 8EG, Avon, England.
236Nottingham Univ Hosp NHS Trust, Nottingham Clin Genet Serv, Nottingham NG5 1PB, England.
237Inst Canc Res, Oncogenet Team, London SM2 5NG, England.
238Royal Marsden NHS Fdn Trust, London SM2 5NG, England.
239Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Univ Fdn Trust, St Marys Hosp,Genom Med,Div Evolut & Genom Sci, Manchester M13 9WL, Lancs, England.
240Manchester Univ Fdn Trust, St Marys Hosp, Manchester Acad Hlth Sci Ctr, Genom Med,North West Genom Hub, Manchester M13 9WL, Lancs, England.
241NHS Grampian, North Scotland Reg Genet Serv, Aberdeen, Scotland.
242Univ Aberdeen, Aberdeen, Scotland.
243St George Hosp, Southwest Thames Reg Genet Serv, London SW17 0QT, England.
244Newcastle Upon Tyne Hosp NHS Trust, Ctr Life, Inst Genet Med, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England.
245St Georges Univ London, Dept Clin Genet, London SW17 0RE, England.
246Guys & St Thomas NHS Fdn Trust, Clin Genet, London SE1 9RT, England.
247Trinity Coll Dublin, Acad Unit Clin & Mol Oncol, Eire 8, Dublin, Ireland.
248St James Hosp, Eire 8, Dublin, Ireland.
249Alder Hey Hosp, Dept Clin Genet, Liverpool L12 2AP, Merseyside, England.
250Belfast City Hosp, Northern Ireland Reg Genet Ctr, Belfast BT9 7AB, Antrim, North Ireland.
251Birmingham Womens Hosp Healthcare NHS Trust, West Midlands Reg Genet Serv, Birmingham B15 2TG, W Midlands, England.
252Western Gen Hosp, South East Scotland Reg Genet Serv, Edinburgh EH4 2XU, Midlothian, Scotland.
253Univ Hosp Wales, Wales Med Genet Serv, Cardiff CF14 4XW, S Glam, Wales.
254Princess Anne Hosp, Southampton SO16 5YA, Hants, England.
255St Georges Univ London, Med Genet Unit, London SW17 0RE, England.
256Churchill Hosp, Oxford Reg Genet Serv, Oxford OX3 7LJ, England.
257Netherlands Canc Inst, Dept Epidemiol, NL-1066 CX Amsterdam, Netherlands.
258Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 GZ Groningen, Netherlands.
259Univ Med Ctr, Dept Med Genet, NL-3594 CX Utrecht, Netherlands.
260Erasmus Univ, Dept Pathol, Med Ctr, NL-3015 CN Rotterdam, Netherlands.
261Erasmus MC Canc Inst, Dept Gynaecol, Family Canc Clin, NL-3015 CE Rotterdam, Netherlands.
262Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, NL-1105 AZ Amsterdam, Netherlands.
263Vrije Univ Amsterdam, Amsterdam UMC, Clin Genet, NL-1007 MB Amsterdam, Netherlands.
264Dept Clin Genet, Locat AMC, Amsterdam UMC, NL-1100 DD Amsterdam, Netherlands.
265Netherlands Canc Inst, Dept Pathol, NL-1006 BE Amsterdam, Netherlands.
266Dana Farber Canc Inst, Dept Canc Biol, Boston, MA 02215 USA.
267Harvard Med Sch, Dept Surg, Boston, MA 02215 USA.
268McMaster Univ, Juravinski Hosp & Canc Ctr, Dept Pathol & Mol Med, Hamilton, ON L8V 1C3, Canada.
269Fox Chase Canc Ctr, Populat Studies Facil, 7701 Burholme Ave, Philadelphia, PA 19111 USA.
270Huntsman Canc Inst, Dept Med, Salt Lake City, UT 84112 USA.
271Huntsman Canc Inst, Salt Lake City, UT 84112 USA.
272Pathol West ICPMR, Westmead, NSW 2145, Australia.
273Univ Sydney, Royal North Shore Hosp, Kolling Inst Med Res, Sydney, NSW 2065, Australia.
274John Hunter Hosp, Pathol North, Newcastle, NSW 2305, Australia.
275Univ Sydney, Westmead Inst Med Res, Australian Breast Canc Tissue Bank, Sydney, NSW 2145, Australia.
276Australian Natl Univ, Canberra Hosp, ACT Pathol, Dept Anat Pathol, Canberra, ACT 2605, Australia.
277Australian Natl Univ, ANU Med Sch, Canberra, ACT 2605, Australia.
278Univ Newcastle, Australian New Zealand Breast Canc Trials Grp, Calvary Mater Newcastle Hosp, Dept Surg Oncol, Newcastle, NSW 2035, Australia.
279Univ Newcastle, Sch Med & Publ Hlth, Newcastle, NSW 2035, Australia.
280Univ Western Sydney, Sch Sci & Hlth, Sydney, NSW 2650, Australia.
281SydPath St Vincents Hosp, Sydney, NSW 2010, Australia.
282Westmead Hosp, Westmead Breast Canc Inst, Pathol West, Dept Tissue Pathol & Diagnost Oncol, Sydney, NSW 2145, Australia.
283Univ Queensland, UQ Ctr Clin Res, Brisbane, Qld 4072, Australia.
284Univ Queensland, Sch Med, Brisbane, Qld 4072, Australia.
285St Vincents Hosp, Kinghorn Canc Ctr, Hereditary Canc Clin, Sydney, NSW 2010, Australia.
286Westmead Hosp, Crown Princess Mary Canc Ctr, Sydney, NSW 2145, Australia.
287Canberra Hosp, Dept Med Oncol, Canberra, ACT 2605, Australia.
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 3 MB)
Persistent link: http://urn.fi/urn:nbn:fi-fe202003127978
Language: English
Published: Springer Nature, 2019
Publish Date: 2020-03-12
Description:

Abstract

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.

see all

Series: Nature communications
ISSN: 2041-1723
ISSN-E: 2041-1723
ISSN-L: 2041-1723
Volume: 10
Article number: 1741
DOI: 10.1038/s41467-018-08053-5
OADOI: https://oadoi.org/10.1038/s41467-018-08053-5
Type of Publication: A1 Journal article – refereed
Field of Science: 3122 Cancers
Subjects:
Copyright information: © The Author(s) 2019. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
  https://creativecommons.org/licenses/by/4.0/