Refine
Has Fulltext
- yes (5)
Is part of the Bibliography
- yes (5)
Document Type
- Journal article (5)
Language
- English (5)
Keywords
- consortium (2)
- modifiers (2)
- AIRWAYS ICPs (1)
- ARIA (1)
- Chronic respiratory diseases (1)
- DNA (1)
- EIP on AHA (1)
- European Innovation Partnership on Active and Healthy Ageing (1)
- MACVIA (1)
- Ovarian (1)
Author
- Andrulis, Irene L. (4)
- Antoniou, Antonis C. (4)
- Arun, Banu K. (4)
- Barrowdale, Daniel (4)
- Chenevix-Trench, Georgia (4)
- Chung, Wendy K. (4)
- Couch, Fergus J. (4)
- Devilee, Peter (4)
- Easton, Douglas F. (4)
- Ejlertsen, Bent (4)
- Engel, Christoph (4)
- Friedman, Eitan (4)
- Garber, Judy (4)
- Goldgar, David E. (4)
- Greene, Mark H. (4)
- Hamann, Ute (4)
- Hogervorst, Frans B. L. (4)
- Imyanitov, Evgeny N. (4)
- Jakubowska, Anna (4)
- Janavicius, Ramunas (4)
- Laitman, Yael (4)
- Lester, Jenny (4)
- McGuffog, Lesley (4)
- Meindl, Alfons (4)
- Nathanson, Katherine L. (4)
- Neuhausen, Susan L. (4)
- Nevanlinna, Heli (4)
- Olah, Edith (4)
- Osorio, Ana (4)
- Pedersen, Inge Sokilde (4)
- Peterlongo, Paolo (4)
- Radice, Paolo (4)
- Rennert, Gad (4)
- Singer, Christian F. (4)
- Soucy, Penny (4)
- Spurdle, Amanda B. (4)
- Terry, Mary Beth (4)
- Thomassen, Mads (4)
- Wappenschmidt, Barbara (4)
- Weitzel, Jeffrey N. (4)
- Aittomäki, Kristiina (3)
- Arnold, Norbert (3)
- Benitez, Javier (3)
- Bignon, Yves-Jean (3)
- Caligo, Maria A. (3)
- Claes, Kathleen (3)
- Daly, Mary B. (3)
- Damiola, Francesca (3)
- Dennis, Joe (3)
- Diez, Orland (3)
- Ditsch, Nina (3)
- Domchek, Susan M. (3)
- Dorfling, Cecilia M. (3)
- Dunning, Alison M. (3)
- Fink-Retter, Anneliese (3)
- Frost, Debra (3)
- Gehrig, Andrea (3)
- Gerdes, Anne-Marie (3)
- Glendon, Gord (3)
- Godwin, Andrew K. (3)
- Gronwald, Jacek (3)
- John, Esther M. (3)
- Karlan, Beth Y. (3)
- Kast, Karin (3)
- Konstantopoulou, Irene (3)
- Kruse, Torben A. (3)
- Lasset, Christine (3)
- Lazaro, Conxi (3)
- Loman, Niklas (3)
- Mai, Phuong L. (3)
- Manoukian, Siranoush (3)
- Mazoyer, Sylvie (3)
- Meijers-Heijboer, Hanne E. J. (3)
- Montagna, Marco (3)
- Mulligan, Anna Marie (3)
- Niederacher, Dieter (3)
- Nielsen, Finn C. (3)
- Nussbaum, Robert L. (3)
- Offit, Kenneth (3)
- Olopade, Olufunmilayo I. (3)
- Ottini, Laura (3)
- Pankratz, Vernon S. (3)
- Pfeiler, Georg (3)
- Piedmonte, Marion (3)
- Preisler-Adams, Sabine (3)
- Rappaport, Christine (3)
- Rebbeck, Timothy R. (3)
- Rhiem, Kerstin (3)
- Robson, Mark (3)
- Rookus, Matti A. (3)
- Schmutzler, Rita K. (3)
- Simard, Jacques (3)
- Sinilnikova, Olga M. (3)
- Stoppa-Lyonnet, Dominique (3)
- Sutter, Christian (3)
- Tea, Muy-Kheng (3)
- Tischkowitz, Marc (3)
- Tung, Nadine (3)
- Vijai, Joseph (3)
- Yannoukakos, Drakoulis (3)
- de la Hoya, Miguel (3)
- Aalfs, Cora M. (2)
- Adlard, Julian (2)
- Agata, Simona (2)
- Arver, Brita (2)
- Bae-Jump, Victoria L. (2)
- Balmaña, Judith (2)
- Barjhoux, Laure (2)
- Barkardottir, Rosa B. (2)
- Berger, Andreas (2)
- Berthet, Pascaline (2)
- Blanco, Ignacio (2)
- Blok, Marinus J. (2)
- Bonanni, Bernardo (2)
- Brewer, Carole (2)
- Brunet, Joan (2)
- Buys, Saundra S. (2)
- Caldes, Trinidad (2)
- Caldés, Trinidad (2)
- Campbell, Ian (2)
- Carter, Jonathan (2)
- Castera, Laurent (2)
- Cook, Jackie (2)
- Cunningham, Julie (2)
- Ding, Yuan Chun (2)
- Donaldson, Alan (2)
- Dorkins, Huw (2)
- Douglas, Fiona (2)
- Durda, Katarzyna (2)
- Eccles, Diana M. (2)
- Evans, D. Gareth (2)
- Fineberg, Elena (2)
- Foretova, Lenka (2)
- Ganz, Patricia A. (2)
- Gaudet, Mia M. (2)
- Hall, Per (2)
- Hansen, Thomas V. O. (2)
- Healey, Sue (2)
- Herzog, Josef (2)
- Hodgson, Shirley (2)
- Isaacs, Claudine (2)
- James, Paul A. (2)
- Jensen, Uffe Birk (2)
- Jønson, Lars (2)
- Kauff, Noah (2)
- Kuchenbaecker, Karoline B. (2)
- Lee, Adam (2)
- Lee, Andrew (2)
- Loud, Jennifer T. (2)
- McCann, Emma (2)
- Morrison, Patrick J. (2)
- Murray, Alex (2)
- Narod, Steven A. (2)
- Olswold, Curtis (2)
- Orsulic, Sandra (2)
- Paluch, Shani Shimon (2)
- Papi, Laura (2)
- Peissel, Bernard (2)
- Pensotti, Valeria (2)
- Peock, Susan (2)
- Phelan, Catherine M. (2)
- Plendl, Hansjoerg (2)
- Ramus, Susan J. (2)
- Rantala, Johanna (2)
- Rodriguez, Gustavo C. (2)
- Rogers, Mark T. (2)
- Rosenquist, Richard (2)
- Rouleau, Etienne (2)
- Scuvera, Giulietta (2)
- Seynaeve, Caroline (2)
- Side, Lucy E. (2)
- Southey, Melissa C. (2)
- Steinemann, Doris (2)
- Stenmark-Askmalm, Marie (2)
- Szabo, Csilla I. (2)
- Teixeira, Manuel R. (2)
- Teulé, Alex (2)
- Tihomirova, Laima (2)
- Toland, Amanda E. (2)
- Toland, Amanda Ewart (2)
- Varesco, Liliana (2)
- Varon-Mateeva, Raymonda (2)
- Walsh, Christine (2)
- Wang, Xianshu (2)
- Wang-Gohrke, Shan (2)
- Wijnen, Juul T. (2)
- van Leeuwen, Flora E. (2)
- van Rensburg, Elizabeth J. (2)
- van den Ouweland, Ans M. W. (2)
- Aberer, W. (1)
- Adachi, M. (1)
- Agnarsson, Bjarne A. (1)
- Agusti, A. (1)
- Aittomäki, Kristina (1)
- Akdis, C. A. (1)
- Akdis, M. (1)
- Al-Ejeh, Fares (1)
- Alonso, A. (1)
- Andersen, Mette K. (1)
- Andreas Conejero, Raquel (1)
- Ankri, J. (1)
- Annesi-Maesano, I. (1)
- Ansotegui, I. J. (1)
- Anto, J. M. (1)
- Anton-Culver, Hoda (1)
- Arason, Adalgeir (1)
- Arnavielhe, S. (1)
- Arndt, Volker (1)
- Aronson, Kristan J. (1)
- Arshad, H. (1)
- Asseryanis, Ella (1)
- Ausems, Magreet G. E. M. (1)
- Azzollini, Jacopo (1)
- Bachert, C. (1)
- Bacot, Françios (1)
- Bai, C. (1)
- Baiardini, I. (1)
- Baigenzhin, A. K. (1)
- Barbara, C. (1)
- Bardel, Claire (1)
- Barnes, Daniel R. (1)
- Barwell, Julian (1)
- Bateman, E. D. (1)
- Beattie, Mary S. (1)
- Beckmann, Matthias W. (1)
- Bedbrook, A. (1)
- Beesley, Jonathan (1)
- Beghé, B. (1)
- Behrens, Sabine (1)
- Bel, E. H. (1)
- Ben Kheder, A. (1)
- Bennoor, K. S. (1)
- Benson, M. (1)
- Benítez, Javier (1)
- Berenguer, Antoni (1)
- Bergmann, K. C. (1)
- Bermisheva, Marina (1)
- Bernard, Loris (1)
- Bewick, M. (1)
- Bialkowska, Katarzyna (1)
- Bieber, T. (1)
- Bindslev-Jensen, C. (1)
- Birk Jensen, Uffe (1)
- Bjermer, L. (1)
- Blain, H. (1)
- Blanco, Ingnacio (1)
- Blank, Stephanie V. (1)
- Blasi, F. (1)
- Blein, Sophie (1)
- Blomqvist, Carl (1)
- Bogdanova, Natalia V. (1)
- Bojesen, Anders (1)
- Bojesen, Stig E. (1)
- Bolla, Manjeet K. (1)
- Bonadona, Valerie (1)
- Boner, A. L. (1)
- Bonifaci, Núria (1)
- Bonini, M. (1)
- Bonini, S. (1)
- Borg, Ake (1)
- Bosnic-Anticevitch, S. (1)
- Boulet, L. P. (1)
- Bourret, R. (1)
- Bousquet, J. (1)
- Bousquet, P. J. (1)
- Brady, Angela (1)
- Braido, F. (1)
- Brauch, Hiltrud (1)
- Brenner, Hermann (1)
- Briggs, A. H. (1)
- Brightling, C. E. (1)
- Broeks, Annegien (1)
- Brozek, J. (1)
- Buhl, R. (1)
- Burney, P. G. (1)
- Burwinkel, Barbara (1)
- Bush, A. (1)
- Caballero-Fonseca, F. (1)
- Caimmi, D. (1)
- Calderon, M. A. (1)
- Calender, Alain (1)
- Calverley, P. M. (1)
- Camargos, P. A. M. (1)
- Campa, Daniele (1)
- Camuzat, T. (1)
- Canonica, G. W. (1)
- Canzian, Federico (1)
- Capone, Gabriele L. (1)
- Carlsen, K. H. (1)
- Carr, W. (1)
- Carriazo, A. (1)
- Carter, Brian D. (1)
- Casale, T. (1)
- Castelao, Jose E. (1)
- Català, Isabel (1)
- Cepeda Sarabia, A. M. (1)
- Chan, Salina B. (1)
- Chang-Claude, Jenny (1)
- Chanock, Stephen J. (1)
- Chatzi, L. (1)
- Chavannes, N. H. (1)
- Chen, Wang (1)
- Chen, Y. Z. (1)
- Chiquette, Jocelyne (1)
- Chiron, R. (1)
- Chkhartishvili, E. (1)
- Christiansen, Hans (1)
- Chu, Carol (1)
- Chuchalin, A. G. (1)
- Chung, K. F. (1)
- Ciprandi, G. (1)
- Cirule, I. (1)
- Claes, Kathleen B. M. (1)
- Clarke, Christine L. (1)
- Cohn, David E. (1)
- Cole, Trevor (1)
- Cook, Margaret (1)
- Corines, Marina (1)
- Corines, Marina J. (1)
- Cornelis, François (1)
- Correia de Sousa, J. (1)
- Costa, D. J. (1)
- Coupier, Isabelle (1)
- Cox, Angela (1)
- Cox, David G. (1)
- Cox, L. (1)
- Crooks, G. (1)
- Cross, Simon S. (1)
- Cruz, A. A. (1)
- Cuadras, Daniel (1)
- Custovic, A. (1)
- Czene, Kamila (1)
- Dahl, R. (1)
- Dahlen, S. E. (1)
- Danjean, Vincent (1)
- Darsow, U. (1)
- Davidson, Rosemarie (1)
- De Blay, F. (1)
- De Carlo, G. (1)
- De Leeneer, Kim (1)
- De Manuel Keenoy, E. (1)
- De la Hoya, Miguel (1)
- Dedeu, T. (1)
- Deissler, Helmut (1)
- Del Valle, Jesus (1)
- Deleanu, D. (1)
- Delnatte, Capucine (1)
- Demoly, P. (1)
- Denburg, J. A. (1)
- Devillier, P. (1)
- DiSilvestro, Paul A. (1)
- Dicks, Ed (1)
- Didier, A. (1)
- Dinh-Xuan, A. T. (1)
- Djukanovic, R. (1)
- Dokic, D. (1)
- Dolcetti, Riccardo (1)
- Douagui, H. (1)
- Dray, G. (1)
- Dreyfus, Helene (1)
- Dubakiene, R. (1)
- Duran, Mercedes (1)
- Durham, S. R. (1)
- Dwek, Miriam (1)
- Dykewicz, M. S. (1)
- Díez, Orland (1)
- Dörk, Thilo (1)
- Eason, Jacqueline (1)
- Eccles, Diana (1)
- Eeles, Ros (1)
- Eeles, Rosalind A. (1)
- Einbeigi, Zakaria (1)
- El-Gamal, Y. (1)
- Ellberg, Carolina (1)
- Ellis, Steve (1)
- Emuzyte, R. (1)
- Engert, Stefanie (1)
- Eriksson, Mikael (1)
- Esteller, Manel (1)
- Fabbri, L. M. (1)
- Farrell, J. (1)
- Fasching, Peter A. (1)
- Fassy-Colcombet, Marion (1)
- Feliubadaló, Lidia (1)
- Ferreira, Manuel A. (1)
- Fert Ferrer, Sandra (1)
- Fink Wagner, A. (1)
- Fiocchi, A. (1)
- Fletcher, M. (1)
- Fletcher, Olivia (1)
- Flyger, Henrik (1)
- Fokkens, W. J. (1)
- Fonseca, J. (1)
- Foo, Claire (1)
- Forastiere, F. (1)
- Fostira, Florentia (1)
- Foulkes, William (1)
- Fredericksen, Zachary (1)
- Friebel, Tara M. (1)
- Friedlander, Michael (1)
- Frith, P. (1)
- Gabrielson, Marike (1)
- Gadzicki, Dorothea (1)
- Gaga, M. (1)
- Gago-Dominguez, Manuela (1)
- Gamazon, Eric R. (1)
- Gamkrelidze, A. (1)
- Gapstur, Susan M. (1)
- Garces, J. (1)
- Garcia, Encarna B. Gómez (1)
- Garcia-Aymerich, J. (1)
- García-Closas, Montserrat (1)
- García-Sáenz, José A. (1)
- Gauthier-Villars, Marion (1)
- Gemicioğlu, B. (1)
- Gereda, J. E. (1)
- Geschwantler Kaulich, Daphne (1)
- Geschwantler-Kaulich, Daphne (1)
- Giles, Graham G. (1)
- Gille, Johannes J. P. (1)
- Godwin, Andrew K (1)
- Goldberg, Mark S. (1)
- Golmard, Lisa (1)
- González Diaz, S. (1)
- González-Neira, Anna (1)
- Gorrini, Chiara (1)
- Gotua, M. (1)
- Gregory, Helen (1)
- Grisle, I. (1)
- Grouse, L. (1)
- Gschwantler-Kaulich, Daphne (1)
- Guenél, Pascal (1)
- Gutter, Z. (1)
- Guzmán, M. A. (1)
- Gómez, Antonio (1)
- Haahtela, T. (1)
- Haimann, Christopher A. (1)
- Hansen, Thomas V. (1)
- Hardouin, Agnès (1)
- Hart, Steven (1)
- He, Wei (1)
- Healay, Sue (1)
- Heaney, L. G. (1)
- Heinrich, J. (1)
- Hellings, P. (1)
- Hellquist-Dahl, B. (1)
- Henderson, D. (1)
- Hendry, A. (1)
- Heve, D. (1)
- Heyn, Holger (1)
- Heyworth, Jane (1)
- Hollestelle, Antoinette (1)
- Hoover, Robert N. (1)
- Hopper, John L. (1)
- Horak, F. (1)
- Houdayer, Claude (1)
- Houghton, Catherine (1)
- Hourihane, J. O’. B. (1)
- Howarth, P. (1)
- Hulick, Peter J. (1)
- Humbert, M. (1)
- Humphreys, Keith (1)
- Huo, Dezheng (1)
- Huzarski, Tomasz (1)
- Hyland, M. E. (1)
- Illario, M. (1)
- Islam, Abul (1)
- Ivancevich, J. C. (1)
- Izatt, Louise (1)
- Izatt, Luise (1)
- Jacobs, Chris (1)
- Jacobs, Lauren (1)
- Jager, Agnes (1)
- Jakimovska, Milena (1)
- Jankowitz, Rachel C. (1)
- Jardim, J. R. (1)
- Jares, E. J. (1)
- Jaworska, Katarzyna (1)
- Jaworska-Bieniek, Katarzyna (1)
- Jeandel, C. (1)
- Jenkins, C. (1)
- Johnson, Nichola (1)
- Johnston, S. L. (1)
- Jones, Michael E. (1)
- Jonquet, O. (1)
- Joos, G. (1)
- Joseph, Vijai (1)
- Julge, K. (1)
- Jung, K. S. (1)
- Just, J. (1)
- Kaidashev, I. (1)
- Kaitov, M. R. (1)
- Kalayci, O. (1)
- Kalyoncu, A. F. (1)
- Karlan, Bethy Y. (1)
- Kaufman, Bella (1)
- Keil, T. (1)
- Keith, P. K. (1)
- Kennedy, M. John (1)
- Kets, Carolien M. (1)
- Khaltaev, N. (1)
- Khusnutdinova, Elza (1)
- Kiiski, Johanna I. (1)
- Klimek, L. (1)
- Ko, Yon-Dschun (1)
- Koffi N’Goran, B. (1)
- Kolek, V. (1)
- Koppelman, G. H. (1)
- Kosel, Matthew (1)
- Kowalski, M. L. (1)
- Kraft, Peter (1)
- Kristensen, Vessela N. (1)
- Kuchenbaecker, Karoline (1)
- Kull, I. (1)
- Kuna, P. (1)
- Kvedariene, V. (1)
- Kwong, Ava (1)
- Lalloo, Fiona (1)
- Lambrecht, B. (1)
- Lambrechts, Diether (1)
- Larenas‑Linnemann, D. (1)
- Lasa, Adriana (1)
- Lau, S. (1)
- Laune, D. (1)
- Le, L. T. T. (1)
- Lefol, Cedrick (1)
- Lejbkowicz, Flavio (1)
- Leroux, Dominique (1)
- Leroux,, Dominique (1)
- Leslie, Goska (1)
- Lesueur, Fabienne (1)
- Li, J. (1)
- Librado, Pablo (1)
- Lieberman, P. (1)
- Ligtenberg, Marjolijn J. L. (1)
- Ligtenberg, Marjolinjin J. L. (1)
- Liljegren, Annelie (1)
- Lincoln, Anne (1)
- Lindblom, Annika (1)
- Lindor, Noralane (1)
- Lindor, Noralane M. (1)
- Lindor, Noralene M. (1)
- Lindström, Sara (1)
- Lipworth, B. (1)
- Lodrup Carlsen, K. (1)
- Long, Jirong (1)
- Louis, R. (1)
- Lu, Karen H. (1)
- Lubinski, Jan (1)
- Lubinski,, Jan (1)
- Lubiński, Jan (1)
- Lázaro, Conxi (1)
- Léoné, Melanie (1)
- Léoné, Mélanie (1)
- MacNee, W. (1)
- Magard, Y. (1)
- Magnan, A. (1)
- Mahboub, B. (1)
- Mair, A. (1)
- Majer, I. (1)
- Makalic, Enes (1)
- Makela, M. J. (1)
- Malva, J. (1)
- Mannermaa, Arto (1)
- Manning, P. (1)
- Manoochehri, Mehdi (1)
- Mara, S. (1)
- Margileth, David (1)
- Margolin, Sara (1)
- Markov, Nadja Bogdanova (1)
- Marshall, G. D. (1)
- Masjedi, M. R. (1)
- Mateo, Francesca (1)
- Matignon, P. (1)
- Maugard, Christine (1)
- Maurer, M. (1)
- Maurer, Tabea (1)
- Mavale‑Manuel, S. (1)
- Mavroudis, Dimitrios (1)
- Maxwell, Christopher A. (1)
- Melin, Beatrice (1)
- Melloni, Guilia (1)
- Melo‑Gomes, E. (1)
- Meltzer, E. O. (1)
- Melén, E. (1)
- Menon, Usha (1)
- Menzies‑Gow, A. (1)
- Merk, H. (1)
- Michailidou, Kyriaki (1)
- Michel, J. P. (1)
- Miculinic, N. (1)
- Mihaltan, F. (1)
- Milenkovic, B. (1)
- Miller, Austin (1)
- Milne, Roger L. (1)
- Miron, Alex (1)
- Miron, Alexander (1)
- Mitchell, Gillian (1)
- Moeller, Sanne Traasdahl (1)
- Mohammad, G. M. Y. (1)
- Molimard, M. (1)
- Momas, I. (1)
- Montilla‑Santana, A. (1)
- Morais‑Almeida, M. (1)
- Moreno, Fernando (1)
- Morgan, M. (1)
- Moserle, Lidia (1)
- Mullol, J. (1)
- Muranen, Taru A. (1)
- Muraro, A. (1)
- Mösges, R. (1)
- Naclerio, R. (1)
- Nafti, S. (1)
- Namazova‑Baranova, L. (1)
- Neffen, H. (1)
- Nekam, K. (1)
- Neou, A. (1)
- Nerenstone, Stacy R. (1)
- Nevelsteen, Ines (1)
- Niggemann, B. (1)
- Nikitina-Zake, Liene (1)
- Ninot, G. (1)
- Nogues, Catherine (1)
- Nogues, M. (1)
- Nyembue, T. D. (1)
- O'Malley, David M. (1)
- Offit, Kenenth (1)
- Ohta, K. (1)
- Okamoto, Y. (1)
- Okubo, K. (1)
- Oliver, Clare (1)
- Olsson, Håkan (1)
- Ong, Kai-Ren (1)
- Oosterwijk, Jan C. (1)
- Ouedraogo, S. (1)
- Ozcelik, Hilmi (1)
- O’Hehir, R. E. (1)
- Paggiaro, P. (1)
- Pali‑Schöll, I. (1)
- Palkonen, S. (1)
- Panzner, P. (1)
- Papadopoulos, N. (1)
- Papi, A. (1)
- Papp, Janos (1)
- Park, H. S. (1)
- Park-Simon, Tjoung-Won (1)
- Parsons, Michael T. (1)
- Passalacqua, G. (1)
- Pastinen, Tomi (1)
- Paterson, Joan (1)
- Pauw, Antoine de (1)
- Pavord, I. (1)
- Pawankar, R. (1)
- Pedersen, S. (1)
- Peissel, Bernhard (1)
- Peixoto, Ana (1)
- Pengelly, R. (1)
- Petit, Anna (1)
- Pfaar, O. (1)
- Pharaoh, Paul D. P. (1)
- Phillips, Kelly-Anne A. (1)
- Picard, R. (1)
- Pichert, Gabriella (1)
- Pigearias, B. (1)
- Pin, I. (1)
- Plaseska-Karanfilska, Dijana (1)
- Platte, Radka (1)
- Platte, Radke (1)
- Plavec, D. (1)
- Plendl, Hansjoerg J. (1)
- Poethig, D. (1)
- Pohl, W. (1)
- Popov, T. A. (1)
- Poppe, Bruce (1)
- Portejoie, F. (1)
- Porteous, Mary E. (1)
- Postma, D. (1)
- Potter, P. (1)
- Presneau, Nadege (1)
- Price, D. (1)
- Prieur, Fabienne (1)
- Pujana, Miguel Angel (1)
- Pujana, Miquel Angel (1)
- Pujol, Pascal (1)
- Rabe, K. F. (1)
- Raciborski, F. (1)
- Radier Pontal, F. (1)
- Ramón y Cajal, Teresa (1)
- Reitamo, S. (1)
- Rennard, S. (1)
- Repka‑Ramirez, S. (1)
- Risch, Harvey A. (1)
- Robalo-Cordeiro, C. (1)
- Roberts, J. (1)
- Roca, J. (1)
- Rodenas, F. (1)
- Rodriguez Mañas, L. (1)
- Romero, Atocha (1)
- Rozas, Julio (1)
- Ruiz de Garibay, Gorka (1)
- Saloustros, Emmanouil (1)
- Samolinski, B. (1)
- Sanchez-Gracia, Alejandro (1)
- Sand, Sharon R. (1)
- Sanden, Kristin (1)
- Sarrel, Kara (1)
- Sawyer, Elinor J. (1)
- Sayols, Sergi (1)
- Schmidt, Marjanka K. (1)
- Schmutzler, Rita Katharina (1)
- Segota, Ena (1)
- Senter, Leigha (1)
- Sharma, Priyanka (1)
- Shu, Xiao-Ou (1)
- Simard, Jaques (1)
- Skytte, Anne-Bine (1)
- Slager, Susan L. (1)
- Small, Laurie (1)
- Sobol, Hagay (1)
- Sokolenko, Anna P. (1)
- Sornin, Valerie (1)
- Spinelli, John J. (1)
- Steele, Linda (1)
- Stevens, Kristen (1)
- Stone, Jennifer (1)
- Strandberg, T. (1)
- Stravropoulou, Alexandra V. (1)
- Sukiennicki, Grzegorz (1)
- Sunde, Lone (1)
- Swerdlow, Anthony J. (1)
- Tapper, William J. (1)
- Taylor, Jack A. (1)
- Tchatchou, Andrine (1)
- Teo, Soo-Hwang (1)
- Tessier, Daniel (1)
- Teule, Alex (1)
- Thelander, Margo (1)
- Thomas, Gilles (1)
- Thull, Darcy L. (1)
- Thöne, Kathrin (1)
- Tibiletti, Maria Grazia (1)
- Tognazzo, Silvia (1)
- Tornero, Eva (1)
- Torres, Diana (1)
- Truong, Thérèse (1)
- Uhrhammer, Nancy (1)
- Vachon, Celine M. (1)
- Valiulis, A. (1)
- Van Le, Linda (1)
- Van Maerken, Tom (1)
- Van Rensburg, Elisabeth J. (1)
- Van den Ouweland, Ans M. W. (1)
- Van der Hout, Annemarie H. (1)
- Van der Luijt, Rob B. (1)
- Varon-Mateeva, Raymenda (1)
- Vaszko, Tibor (1)
- Vega, Ana (1)
- Venat-Bouvet, Laurence (1)
- Verhoef, Senno (1)
- Vidal, Enrique (1)
- Viel, Alessandra (1)
- Viel, Alexandra (1)
- Villano, Danylko (1)
- Vincent, Daniel (1)
- Volorio, Sara (1)
- Walker, Lisa (1)
- Wang, Qin (1)
- Weaver, Joellen (1)
- Weber, Bernhard H. F. (1)
- Wendt, Camilla (1)
- Winqvist, Robert (1)
- Yang, Xiaohong R. (1)
- Yorgancioglu, A. (1)
- Zaffaroni, Daniela (1)
- Zheng, Wei (1)
- Zidan, Jamal (1)
- Ziogas, Argyrios (1)
- Zlowocka-Perlowska, Elzbieta (1)
- Zuberbier, T. (1)
- de Pauw, Antoine (1)
- et al (1)
- van Asperen, Christi J. (1)
- van Deurzen, Carolien H. M. (1)
- van Os, Theo A. M. (1)
- van Rensburg, Elisabeth J. (1)
- van Roozendaal, Kees E. P. (1)
- van der Hout, Annemarie H. (1)
- van der Luijt, Rob B. (1)
Institute
EU-Project number / Contract (GA) number
- 223175 (2)
Bousquet, J. ; Farrell, J. ; Crooks, G. ; Hellings, P. ; Bel, E. H. ; Bewick, M. ; Chavannes, N. H. ; Correia de Sousa, J. ; Cruz, A. A. ; Haahtela, T. ; Joos, G. ; Khaltaev, N. ; Malva, J. ; Muraro, A. ; Nogues, M. ; Palkonen, S. ; Pedersen, S. ; Robalo-Cordeiro, C. ; Samolinski, B. ; Strandberg, T. ; Valiulis, A. ; Yorgancioglu, A. ; Zuberbier, T. ; Bedbrook, A. ; Aberer, W. ; Adachi, M. ; Agusti, A. ; Akdis, C. A. ; Akdis, M. ; Ankri, J. ; Alonso, A. ; Annesi-Maesano, I. ; Ansotegui, I. J. ; Anto, J. M. ; Arnavielhe, S. ; Arshad, H. ; Bai, C. ; Baiardini, I. ; Bachert, C. ; Baigenzhin, A. K. ; Barbara, C. ; Bateman, E. D. ; Beghé, B. ; Ben Kheder, A. ; Bennoor, K. S. ; Benson, M. ; Bergmann, K. C. ; Bieber, T. ; Bindslev-Jensen, C. ; Bjermer, L. ; Blain, H. ; Blasi, F. ; Boner, A. L. ; Bonini, M. ; Bonini, S. ; Bosnic-Anticevitch, S. ; Boulet, L. P. ; Bourret, R. ; Bousquet, P. J. ; Braido, F. ; Briggs, A. H. ; Brightling, C. E. ; Brozek, J. ; Buhl, R. ; Burney, P. G. ; Bush, A. ; Caballero-Fonseca, F. ; Caimmi, D. ; Calderon, M. A. ; Calverley, P. M. ; Camargos, P. A. M. ; Canonica, G. W. ; Camuzat, T. ; Carlsen, K. H. ; Carr, W. ; Carriazo, A. ; Casale, T. ; Cepeda Sarabia, A. M. ; Chatzi, L. ; Chen, Y. Z. ; Chiron, R. ; Chkhartishvili, E. ; Chuchalin, A. G. ; Chung, K. F. ; Ciprandi, G. ; Cirule, I. ; Cox, L. ; Costa, D. J. ; Custovic, A. ; Dahl, R. ; Dahlen, S. E. ; Darsow, U. ; De Carlo, G. ; De Blay, F. ; Dedeu, T. ; Deleanu, D. ; De Manuel Keenoy, E. ; Demoly, P. ; Denburg, J. A. ; Devillier, P. ; Didier, A. ; Dinh-Xuan, A. T. ; Djukanovic, R. ; Dokic, D. ; Douagui, H. ; Dray, G. ; Dubakiene, R. ; Durham, S. R. ; Dykewicz, M. S. ; El-Gamal, Y. ; Emuzyte, R. ; Fabbri, L. M. ; Fletcher, M. ; Fiocchi, A. ; Fink Wagner, A. ; Fonseca, J. ; Fokkens, W. J. ; Forastiere, F. ; Frith, P. ; Gaga, M. ; Gamkrelidze, A. ; Garces, J. ; Garcia-Aymerich, J. ; Gemicioğlu, B. ; Gereda, J. E. ; González Diaz, S. ; Gotua, M. ; Grisle, I. ; Grouse, L. ; Gutter, Z. ; Guzmán, M. A. ; Heaney, L. G. ; Hellquist-Dahl, B. ; Henderson, D. ; Hendry, A. ; Heinrich, J. ; Heve, D. ; Horak, F. ; Hourihane, J. O’. B. ; Howarth, P. ; Humbert, M. ; Hyland, M. E. ; Illario, M. ; Ivancevich, J. C. ; Jardim, J. R. ; Jares, E. J. ; Jeandel, C. ; Jenkins, C. ; Johnston, S. L. ; Jonquet, O. ; Julge, K. ; Jung, K. S. ; Just, J. ; Kaidashev, I. ; Kaitov, M. R. ; Kalayci, O. ; Kalyoncu, A. F. ; Keil, T. ; Keith, P. K. ; Klimek, L. ; Koffi N’Goran, B. ; Kolek, V. ; Koppelman, G. H. ; Kowalski, M. L. ; Kull, I. ; Kuna, P. ; Kvedariene, V. ; Lambrecht, B. ; Lau, S. ; Larenas‑Linnemann, D. ; Laune, D. ; Le, L. T. T. ; Lieberman, P. ; Lipworth, B. ; Li, J. ; Lodrup Carlsen, K. ; Louis, R. ; MacNee, W. ; Magard, Y. ; Magnan, A. ; Mahboub, B. ; Mair, A. ; Majer, I. ; Makela, M. J. ; Manning, P. ; Mara, S. ; Marshall, G. D. ; Masjedi, M. R. ; Matignon, P. ; Maurer, M. ; Mavale‑Manuel, S. ; Melén, E. ; Melo‑Gomes, E. ; Meltzer, E. O. ; Menzies‑Gow, A. ; Merk, H. ; Michel, J. P. ; Miculinic, N. ; Mihaltan, F. ; Milenkovic, B. ; Mohammad, G. M. Y. ; Molimard, M. ; Momas, I. ; Montilla‑Santana, A. ; Morais‑Almeida, M. ; Morgan, M. ; Mösges, R. ; Mullol, J. ; Nafti, S. ; Namazova‑Baranova, L. ; Naclerio, R. ; Neou, A. ; Neffen, H. ; Nekam, K. ; Niggemann, B. ; Ninot, G. ; Nyembue, T. D. ; O’Hehir, R. E. ; Ohta, K. ; Okamoto, Y. ; Okubo, K. ; Ouedraogo, S. ; Paggiaro, P. ; Pali‑Schöll, I. ; Panzner, P. ; Papadopoulos, N. ; Papi, A. ; Park, H. S. ; Passalacqua, G. ; Pavord, I. ; Pawankar, R. ; Pengelly, R. ; Pfaar, O. ; Picard, R. ; Pigearias, B. ; Pin, I. ; Plavec, D. ; Poethig, D. ; Pohl, W. ; Popov, T. A. ; Portejoie, F. ; Potter, P. ; Postma, D. ; Price, D. ; Rabe, K. F. ; Raciborski, F. ; Radier Pontal, F. ; Repka‑Ramirez, S. ; Reitamo, S. ; Rennard, S. ; Rodenas, F. ; Roberts, J. ; Roca, J. ; Rodriguez Mañas, L. ; et al
Action Plan B3 of the European Innovation Partnership on Active and Healthy Ageing (EIP on AHA) focuses on the integrated care of chronic diseases. Area 5 (Care Pathways) was initiated using chronic respiratory diseases as a model. The chronic respiratory disease action plan includes (1) AIRWAYS integrated care pathways (ICPs), (2) the joint initiative between the Reference site MACVIA-LR (Contre les MAladies Chroniques pour un VIeillissement Actif) and ARIA (Allergic Rhinitis and its Impact on Asthma), (3) Commitments for Action to the European Innovation Partnership on Active and Healthy Ageing and the AIRWAYS ICPs network. It is deployed in collaboration with the World Health Organization Global Alliance against Chronic Respiratory Diseases (GARD). The European Innovation Partnership on Active and Healthy Ageing has proposed a 5-step framework for developing an individual scaling up strategy: (1) what to scale up: (1-a) databases of good practices, (1-b) assessment of viability of the scaling up of good practices, (1-c) classification of good practices for local replication and (2) how to scale up: (2-a) facilitating partnerships for scaling up, (2-b) implementation of key success factors and lessons learnt, including emerging technologies for individualised and predictive medicine. This strategy has already been applied to the chronic respiratory disease action plan of the European Innovation Partnership on Active and Healthy Ageing.
Couch, Fergus J. ; Wang, Xianshu ; McGuffog, Lesley ; Lee, Andrew ; Olswold, Curtis ; Kuchenbaecker, Karoline B. ; Soucy, Penny ; Fredericksen, Zachary ; Barrowdale, Daniel ; Dennis, Joe ; Gaudet, Mia M. ; Dicks, Ed ; Kosel, Matthew ; Healey, Sue ; Sinilnikova, Olga M. ; Lee, Adam ; Bacot, Françios ; Vincent, Daniel ; Hogervorst, Frans B. L. ; Peock, Susan ; Stoppa-Lyonnet, Dominique ; Jakubowska, Anna ; Radice, Paolo ; Schmutzler, Rita Katharina ; Domchek, Susan M. ; Piedmonte, Marion ; Singer, Christian F. ; Friedman, Eitan ; Thomassen, Mads ; Hansen, Thomas V. O. ; Neuhausen, Susan L. ; Szabo, Csilla I. ; Blanco, Ingnacio ; Greene, Mark H. ; Karlan, Beth Y. ; Garber, Judy ; Phelan, Catherine M. ; Weitzel, Jeffrey N. ; Montagna, Marco ; Olah, Edith ; Andrulis, Irene L. ; Godwin, Andrew K. ; Yannoukakos, Drakoulis ; Goldgar, David E. ; Caldes, Trinidad ; Nevanlinna, Heli ; Osorio, Ana ; Terry, Mary Beth ; Daly, Mary B. ; van Rensburg, Elisabeth J. ; Hamann, Ute ; Ramus, Susan J. ; Toland, Amanda Ewart ; Caligo, Maria A. ; Olopade, Olufunmilayo I. ; Tung, Nadine ; Claes, Kathleen ; Beattie, Mary S. ; Southey, Melissa C. ; Imyanitov, Evgeny N. ; Tischkowitz, Marc ; Janavicius, Ramunas ; John, Esther M. ; Kwong, Ava ; Diez, Orland ; Kwong, Ava ; Balmaña, Judith ; Barkardottir, Rosa B. ; Arun, Banu K. ; Rennert, Gad ; Teo, Soo-Hwang ; Ganz, Patricia A. ; Campbell, Ian ; van der Hout, Annemarie H. ; van Deurzen, Carolien H. M. ; Seynaeve, Caroline ; Garcia, Encarna B. Gómez ; van Leeuwen, Flora E. ; Meijers-Heijboer, Hanne E. J. ; Gille, Johannes J. P. ; Ausems, Magreet G. E. M. ; Blok, Marinus J. ; Ligtenberg, Marjolinjin J. L. ; Rookus, Matti A. ; Devilee, Peter ; Verhoef, Senno ; van Os, Theo A. M. ; Wijnen, Juul T. ; Frost, Debra ; Ellis, Steve ; Fineberg, Elena ; Platte, Radke ; Evans, D. Gareth ; Izatt, Luise ; Eeles, Rosalind A. ; Adlard, Julian ; Eccles, Diana M. ; Cook, Jackie ; Brewer, Carole ; Douglas, Fiona ; Hodgson, Shirley ; Morrison, Patrick J. ; Side, Lucy E. ; Donaldson, Alan ; Houghton, Catherine ; Rogers, Mark T. ; Dorkins, Huw ; Eason, Jacqueline ; Gregory, Helen ; McCann, Emma ; Murray, Alex ; Calender, Alain ; Hardouin, Agnès ; Berthet, Pascaline ; Delnatte, Capucine ; Nogues, Catherine ; Lasset, Christine ; Houdayer, Claude ; Leroux,, Dominique ; Rouleau, Etienne ; Prieur, Fabienne ; Damiola, Francesca ; Sobol, Hagay ; Coupier, Isabelle ; Venat-Bouvet, Laurence ; Castera, Laurent ; Gauthier-Villars, Marion ; Léoné, Mélanie ; Pujol, Pascal ; Mazoyer, Sylvie ; Bignon, Yves-Jean ; Zlowocka-Perlowska, Elzbieta ; Gronwald, Jacek ; Lubinski,, Jan ; Durda, Katarzyna ; Jaworska, Katarzyna ; Huzarski, Tomasz ; Spurdle, Amanda B. ; Viel, Alessandra ; Peissel, Bernhard ; Bonanni, Bernardo ; Melloni, Guilia ; Ottini, Laura ; Papi, Laura ; Varesco, Liliana ; Tibiletti, Maria Grazia ; Peterlongo, Paolo ; Volorio, Sara ; Manoukian, Siranoush ; Pensotti, Valeria ; Arnold, Norbert ; Engel, Christoph ; Deissler, Helmut ; Gadzicki, Dorothea ; Gehrig, Andrea ; Kast, Karin ; Rhiem, Kerstin ; Meindl, Alfons ; Niederacher, Dieter ; Ditsch, Nina ; Plendl, Hansjoerg ; Preisler-Adams, Sabine ; Engert, Stefanie ; Sutter, Christian ; Varon-Mateeva, Raymenda ; Wappenschmidt, Barbara ; Weber, Bernhard H. F. ; Arver, Brita ; Stenmark-Askmalm, Marie ; Loman, Niklas ; Rosenquist, Richard ; Einbeigi, Zakaria ; Nathanson, Katherine L. ; Rebbeck, Timothy R. ; Blank, Stephanie V. ; Cohn, David E. ; Rodriguez, Gustavo C. ; Small, Laurie ; Friedlander, Michael ; Bae-Jump, Victoria L. ; Fink-Retter, Anneliese ; Rappaport, Christine ; Gschwantler-Kaulich, Daphne ; Pfeiler, Georg ; Tea, Muy-Kheng ; Lindor, Noralane M. ; Kaufman, Bella ; Paluch, Shani Shimon ; Laitman, Yael ; Skytte, Anne-Bine ; Gerdes, Anne-Marie ; Pedersen, Inge Sokilde ; Moeller, Sanne Traasdahl ; Kruse, Torben A. ; Jensen, Uffe Birk ; Vijai, Joseph ; Sarrel, Kara ; Robson, Mark ; Kauff, Noah ; Mulligan, Anna Marie ; Glendon, Gord ; Ozcelik, Hilmi ; Ejlertsen, Bent ; Nielsen, Finn C. ; Jønson, Lars ; Andersen, Mette K. ; Ding, Yuan Chun ; Steele, Linda ; Foretova, Lenka ; Teulé, Alex ; Lazaro, Conxi ; Brunet, Joan ; Pujana, Miquel Angel ; Mai, Phuong L. ; Loud, Jennifer T. ; Walsh, Christine ; Lester, Jenny ; Orsulic, Sandra ; Narod, Steven A. ; Herzog, Josef ; Sand, Sharon R. ; Tognazzo, Silvia ; Agata, Simona ; Vaszko, Tibor ; Weaver, Joellen ; Stravropoulou, Alexandra V. ; Buys, Saundra S. ; Romero, Atocha ; de la Hoya, Miguel ; Aittomäki, Kristiina ; Muranen, Taru A. ; Duran, Mercedes ; Chung, Wendy K. ; Lasa, Adriana ; Dorfling, Cecilia M. ; Miron, Alexander ; Benitez, Javier ; Senter, Leigha ; Huo, Dezheng ; Chan, Salina B. ; Sokolenko, Anna P. ; Chiquette, Jocelyne ; Tihomirova, Laima ; Friebel, Tara M. ; Agnarsson, Bjarne A. ; Lu, Karen H. ; Lejbkowicz, Flavio ; James, Paul A. ; Hall, Per ; Dunning, Alison M. ; Tessier, Daniel ; Cunningham, Julie ; Slager, Susan L. ; Chen, Wang ; Hart, Steven ; Stevens, Kristen ; Simard, Jacques ; Pastinen, Tomi ; Pankratz, Vernon S. ; Offit, Kenneth ; Easton, Douglas F. ; Chenevix-Trench, Georgia ; Antoniou, Antonis C.
BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 x 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 x 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 x 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2 x 10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
Ferreira, Manuel A. ; Gamazon, Eric R. ; Al-Ejeh, Fares ; Aittomäki, Kristiina ; Andrulis, Irene L. ; Anton-Culver, Hoda ; Arason, Adalgeir ; Arndt, Volker ; Aronson, Kristan J. ; Arun, Banu K. ; Asseryanis, Ella ; Azzollini, Jacopo ; Balmaña, Judith ; Barnes, Daniel R. ; Barrowdale, Daniel ; Beckmann, Matthias W. ; Behrens, Sabine ; Benitez, Javier ; Bermisheva, Marina ; Bialkowska, Katarzyna ; Blomqvist, Carl ; Bogdanova, Natalia V. ; Bojesen, Stig E. ; Bolla, Manjeet K. ; Borg, Ake ; Brauch, Hiltrud ; Brenner, Hermann ; Broeks, Annegien ; Burwinkel, Barbara ; Caldés, Trinidad ; Caligo, Maria A. ; Campa, Daniele ; Campbell, Ian ; Canzian, Federico ; Carter, Jonathan ; Carter, Brian D. ; Castelao, Jose E. ; Chang-Claude, Jenny ; Chanock, Stephen J. ; Christiansen, Hans ; Chung, Wendy K. ; Claes, Kathleen B. M. ; Clarke, Christine L. ; Couch, Fergus J. ; Cox, Angela ; Cross, Simon S. ; Czene, Kamila ; Daly, Mary B. ; de la Hoya, Miguel ; Dennis, Joe ; Devilee, Peter ; Diez, Orland ; Dörk, Thilo ; Dunning, Alison M. ; Dwek, Miriam ; Eccles, Diana M. ; Ejlertsen, Bent ; Ellberg, Carolina ; Engel, Christoph ; Eriksson, Mikael ; Fasching, Peter A. ; Fletcher, Olivia ; Flyger, Henrik ; Friedman, Eitan ; Frost, Debra ; Gabrielson, Marike ; Gago-Dominguez, Manuela ; Ganz, Patricia A. ; Gapstur, Susan M. ; Garber, Judy ; García-Closas, Montserrat ; García-Sáenz, José A. ; Gaudet, Mia M. ; Giles, Graham G. ; Glendon, Gord ; Godwin, Andrew K. ; Goldberg, Mark S. ; Goldgar, David E. ; González-Neira, Anna ; Greene, Mark H. ; Gronwald, Jacek ; Guenél, Pascal ; Haimann, Christopher A. ; Hall, Per ; Hamann, Ute ; He, Wei ; Heyworth, Jane ; Hogervorst, Frans B. L. ; Hollestelle, Antoinette ; Hoover, Robert N. ; Hopper, John L. ; Hulick, Peter J. ; Humphreys, Keith ; Imyanitov, Evgeny N. ; Isaacs, Claudine ; Jakimovska, Milena ; Jakubowska, Anna ; James, Paul A. ; Janavicius, Ramunas ; Jankowitz, Rachel C. ; John, Esther M. ; Johnson, Nichola ; Joseph, Vijai ; Karlan, Beth Y. ; Khusnutdinova, Elza ; Kiiski, Johanna I. ; Ko, Yon-Dschun ; Jones, Michael E. ; Konstantopoulou, Irene ; Kristensen, Vessela N. ; Laitman, Yael ; Lambrechts, Diether ; Lazaro, Conxi ; Leslie, Goska ; Lester, Jenny ; Lesueur, Fabienne ; Lindström, Sara ; Long, Jirong ; Loud, Jennifer T. ; Lubiński, Jan ; Makalic, Enes ; Mannermaa, Arto ; Manoochehri, Mehdi ; Margolin, Sara ; Maurer, Tabea ; Mavroudis, Dimitrios ; McGuffog, Lesley ; Meindl, Alfons ; Menon, Usha ; Michailidou, Kyriaki ; Miller, Austin ; Montagna, Marco ; Moreno, Fernando ; Moserle, Lidia ; Mulligan, Anna Marie ; Nathanson, Katherine L. ; Neuhausen, Susan L. ; Nevanlinna, Heli ; Nevelsteen, Ines ; Nielsen, Finn C. ; Nikitina-Zake, Liene ; Nussbaum, Robert L. ; Offit, Kenneth ; Olah, Edith ; Olopade, Olufunmilayo I. ; Olsson, Håkan ; Osorio, Ana ; Papp, Janos ; Park-Simon, Tjoung-Won ; Parsons, Michael T. ; Pedersen, Inge Sokilde ; Peixoto, Ana ; Peterlongo, Paolo ; Pharaoh, Paul D. P. ; Plaseska-Karanfilska, Dijana ; Poppe, Bruce ; Presneau, Nadege ; Radice, Paolo ; Rantala, Johanna ; Rennert, Gad ; Risch, Harvey A. ; Saloustros, Emmanouil ; Sanden, Kristin ; Sawyer, Elinor J. ; Schmidt, Marjanka K. ; Schmutzler, Rita K. ; Sharma, Priyanka ; Shu, Xiao-Ou ; Simard, Jaques ; Singer, Christian F. ; Soucy, Penny ; Southey, Melissa C. ; Spinelli, John J. ; Spurdle, Amanda B. ; Stone, Jennifer ; Swerdlow, Anthony J. ; Tapper, William J. ; Taylor, Jack A. ; Teixeira, Manuel R. ; Terry, Mary Beth ; Teulé, Alex ; Thomassen, Mads ; Thöne, Kathrin ; Thull, Darcy L. ; Tischkowitz, Marc ; Toland, Amanda E. ; Torres, Diana ; Truong, Thérèse ; Tung, Nadine ; Vachon, Celine M. ; van Asperen, Christi J. ; van den Ouweland, Ans M. W. ; van Rensburg, Elizabeth J. ; Vega, Ana ; Viel, Alexandra ; Wang, Qin ; Wappenschmidt, Barbara ; Weitzel, Jeffrey N. ; Wendt, Camilla ; Winqvist, Robert ; Yang, Xiaohong R. ; Yannoukakos, Drakoulis ; Ziogas, Argyrios ; Kraft, Peter ; Antoniou, Antonis C. ; Zheng, Wei ; Easton, Douglas F. ; Milne, Roger L. ; Beesley, Jonathan ; Chenevix-Trench, Georgia
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.
Blanco, Ignacio ; Kuchenbaecker, Karoline ; Cuadras, Daniel ; Wang, Xianshu ; Barrowdale, Daniel ; Ruiz de Garibay, Gorka ; Librado, Pablo ; Sanchez-Gracia, Alejandro ; Rozas, Julio ; Bonifaci, Núria ; McGuffog, Lesley ; Pankratz, Vernon S. ; Islam, Abul ; Mateo, Francesca ; Berenguer, Antoni ; Petit, Anna ; Català, Isabel ; Brunet, Joan ; Feliubadaló, Lidia ; Tornero, Eva ; Benítez, Javier ; Osorio, Ana ; Ramón y Cajal, Teresa ; Nevanlinna, Heli ; Aittomäki, Kristina ; Arun, Banu K. ; Toland, Amanda E. ; Karlan, Beth Y. ; Walsh, Christine ; Lester, Jenny ; Greene, Mark H. ; Mai, Phuong L. ; Nussbaum, Robert L. ; Andrulis, Irene L. ; Domchek, Susan M. ; Nathanson, Katherine L. ; Rebbeck, Timothy R. ; Barkardottir, Rosa B. ; Jakubowska, Anna ; Lubinski, Jan ; Durda, Katarzyna ; Jaworska-Bieniek, Katarzyna ; Claes, Kathleen ; Van Maerken, Tom ; Díez, Orland ; Hansen, Thomas V. ; Jønson, Lars ; Gerdes, Anne-Marie ; Ejlertsen, Bent ; De la Hoya, Miguel ; Caldés, Trinidad ; Dunning, Alison M. ; Oliver, Clare ; Fineberg, Elena ; Cook, Margaret ; Peock, Susan ; McCann, Emma ; Murray, Alex ; Jacobs, Chris ; Pichert, Gabriella ; Lalloo, Fiona ; Chu, Carol ; Dorkins, Huw ; Paterson, Joan ; Ong, Kai-Ren ; Teixeira, Manuel R. ; Hogervorst, Frans B. L. ; Van der Hout, Annemarie H. ; Seynaeve, Caroline ; Van der Luijt, Rob B. ; Ligtenberg, Marjolijn J. L. ; Devilee, Peter ; Wijnen, Juul T. ; Rookus, Matti A. ; Meijers-Heijboer, Hanne E. J. ; Blok, Marinus J. ; Van den Ouweland, Ans M. W. ; Aalfs, Cora M. ; Rodriguez, Gustavo C. ; Phillips, Kelly-Anne A. ; Piedmonte, Marion ; Nerenstone, Stacy R. ; Bae-Jump, Victoria L. ; O'Malley, David M. ; Schmutzler, Rita K. ; Wappenschmidt, Barbara ; Rhiem, Kerstin ; Engel, Christoph ; Meindl, Alfons ; Ditsch, Nina ; Arnold, Norbert ; Plendl, Hansjoerg J. ; Niederacher, Dieter ; Sutter, Christian ; Wang-Gohrke, Shan ; Steinemann, Doris ; Preisler-Adams, Sabine ; Kast, Karin ; Varon-Mateeva, Raymonda ; Gehrig, Andrea ; Bojesen, Anders ; Pedersen, Inge Sokilde ; Sunde, Lone ; Birk Jensen, Uffe ; Thomassen, Mads ; Kruse, Torben A. ; Foretova, Lenka ; Peterlongo, Paolo ; Bernard, Loris ; Peissel, Bernard ; Scuvera, Giulietta ; Manoukian, Siranoush ; Radice, Paolo ; Ottini, Laura ; Montagna, Marco ; Agata, Simona ; Maugard, Christine ; Simard, Jacques ; Soucy, Penny ; Berger, Andreas ; Fink-Retter, Anneliese ; Singer, Christian F. ; Rappaport, Christine ; Geschwantler-Kaulich, Daphne ; Tea, Muy-Kheng ; Pfeiler, Georg ; John, Esther M. ; Miron, Alex ; Neuhausen, Susan L. ; Terry, Mary Beth ; Chung, Wendy K. ; Daly, Mary B. ; Goldgar, David E. ; Janavicius, Ramunas ; Dorfling, Cecilia M. ; Van Rensburg, Elisabeth J. ; Fostira, Florentia ; Konstantopoulou, Irene ; Garber, Judy ; Godwin, Andrew K. ; Olah, Edith ; Narod, Steven A. ; Rennert, Gad ; Paluch, Shani Shimon ; Laitman, Yael ; Friedman, Eitan ; Liljegren, Annelie ; Rantala, Johanna ; Stenmark-Askmalm, Marie ; Loman, Niklas ; Imyanitov, Evgeny N. ; Hamann, Ute ; Spurdle, Amanda B. ; Healey, Sue ; Weitzel, Jeffrey N. ; Herzog, Josef ; Margileth, David ; Gorrini, Chiara ; Esteller, Manel ; Gómez, Antonio ; Sayols, Sergi ; Vidal, Enrique ; Heyn, Holger ; Stoppa-Lyonnet, Dominique ; Léoné, Melanie ; Barjhoux, Laure ; Fassy-Colcombet, Marion ; Pauw, Antoine de ; Lasset, Christine ; Fert Ferrer, Sandra ; Castera, Laurent ; Berthet, Pascaline ; Cornelis, François ; Bignon, Yves-Jean ; Damiola, Francesca ; Mazoyer, Sylvie ; Sinilnikova, Olga M. ; Maxwell, Christopher A. ; Vijai, Joseph ; Robson, Mark ; Kauff, Noah ; Corines, Marina J. ; Villano, Danylko ; Cunningham, Julie ; Lee, Adam ; Lindor, Noralane ; Lázaro, Conxi ; Easton, Douglas F. ; Offit, Kenneth ; Chenevix-Trench, Georgia ; Couch, Fergus J. ; Antoniou, Antonis C. ; Pujana, Miguel Angel
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood approach. The association of HMMR rs299290 with breast cancer risk in BRCA1 mutation carriers was confirmed: per-allele hazard ratio (HR) = 1.10, 95% confidence interval (CI) 1.04 - 1.15, p = 1.9 x 10\(^{-4}\) (false discovery rate (FDR)-adjusted p = 0.043). Variation in CSTF1, located next to AURKA, was also found to be associated with breast cancer risk in BRCA2 mutation carriers: rs2426618 per-allele HR = 1.10, 95% CI 1.03 - 1.16, p = 0.005 (FDR-adjusted p = 0.045). Assessment of pairwise interactions provided suggestions (FDR-adjusted p\(_{interaction}\) values > 0.05) for deviations from the multiplicative model for rs299290 and CSTF1 rs6064391, and rs299290 and TUBG1 rs11649877 in both BRCA1 and BRCA2 mutation carriers. Following these suggestions, the expression of HMMR and AURKA or TUBG1 in sporadic breast tumors was found to potentially interact, influencing patients' survival. Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers.
Blein, Sophie ; Bardel, Claire ; Danjean, Vincent ; McGuffog, Lesley ; Healay, Sue ; Barrowdale, Daniel ; Lee, Andrew ; Dennis, Joe ; Kuchenbaecker, Karoline B. ; Soucy, Penny ; Terry, Mary Beth ; Chung, Wendy K. ; Goldgar, David E. ; Buys, Saundra S. ; Janavicius, Ramunas ; Tihomirova, Laima ; Tung, Nadine ; Dorfling, Cecilia M. ; van Rensburg, Elizabeth J. ; Neuhausen, Susan L. ; Ding, Yuan Chun ; Gerdes, Anne-Marie ; Ejlertsen, Bent ; Nielsen, Finn C. ; Hansen, Thomas V. O. ; Osorio, Ana ; Benitez, Javier ; Andreas Conejero, Raquel ; Segota, Ena ; Weitzel, Jeffrey N. ; Thelander, Margo ; Peterlongo, Paolo ; Radice, Paolo ; Pensotti, Valeria ; Dolcetti, Riccardo ; Bonanni, Bernardo ; Peissel, Bernard ; Zaffaroni, Daniela ; Scuvera, Giulietta ; Manoukian, Siranoush ; Varesco, Liliana ; Capone, Gabriele L. ; Papi, Laura ; Ottini, Laura ; Yannoukakos, Drakoulis ; Konstantopoulou, Irene ; Garber, Judy ; Hamann, Ute ; Donaldson, Alan ; Brady, Angela ; Brewer, Carole ; Foo, Claire ; Evans, D. Gareth ; Frost, Debra ; Eccles, Diana ; Douglas, Fiona ; Cook, Jackie ; Adlard, Julian ; Barwell, Julian ; Walker, Lisa ; Izatt, Louise ; Side, Lucy E. ; Kennedy, M. John ; Tischkowitz, Marc ; Rogers, Mark T. ; Porteous, Mary E. ; Morrison, Patrick J. ; Platte, Radka ; Eeles, Ros ; Davidson, Rosemarie ; Hodgson, Shirley ; Cole, Trevor ; Godwin, Andrew K ; Isaacs, Claudine ; Claes, Kathleen ; De Leeneer, Kim ; Meindl, Alfons ; Gehrig, Andrea ; Wappenschmidt, Barbara ; Sutter, Christian ; Engel, Christoph ; Niederacher, Dieter ; Steinemann, Doris ; Plendl, Hansjoerg ; Kast, Karin ; Rhiem, Kerstin ; Ditsch, Nina ; Arnold, Norbert ; Varon-Mateeva, Raymonda ; Schmutzler, Rita K. ; Preisler-Adams, Sabine ; Markov, Nadja Bogdanova ; Wang-Gohrke, Shan ; de Pauw, Antoine ; Lefol, Cedrick ; Lasset, Christine ; Leroux, Dominique ; Rouleau, Etienne ; Damiola, Francesca ; Dreyfus, Helene ; Barjhoux, Laure ; Golmard, Lisa ; Uhrhammer, Nancy ; Bonadona, Valerie ; Sornin, Valerie ; Bignon, Yves-Jean ; Carter, Jonathan ; Van Le, Linda ; Piedmonte, Marion ; DiSilvestro, Paul A. ; de la Hoya, Miguel ; Caldes, Trinidad ; Nevanlinna, Heli ; Aittomäki, Kristiina ; Jager, Agnes ; van den Ouweland, Ans M. W. ; Kets, Carolien M. ; Aalfs, Cora M. ; van Leeuwen, Flora E. ; Hogervorst, Frans B. L. ; Meijers-Heijboer, Hanne E. J. ; Oosterwijk, Jan C. ; van Roozendaal, Kees E. P. ; Rookus, Matti A. ; Devilee, Peter ; van der Luijt, Rob B. ; Olah, Edith ; Diez, Orland ; Teule, Alex ; Lazaro, Conxi ; Blanco, Ignacio ; Del Valle, Jesus ; Jakubowska, Anna ; Sukiennicki, Grzegorz ; Gronwald, Jacek ; Spurdle, Amanda B. ; Foulkes, William ; Olswold, Curtis ; Lindor, Noralene M. ; Pankratz, Vernon S. ; Szabo, Csilla I. ; Lincoln, Anne ; Jacobs, Lauren ; Corines, Marina ; Robson, Mark ; Vijai, Joseph ; Berger, Andreas ; Fink-Retter, Anneliese ; Singer, Christian F. ; Rappaport, Christine ; Geschwantler Kaulich, Daphne ; Pfeiler, Georg ; Tea, Muy-Kheng ; Greene, Mark H. ; Mai, Phuong L. ; Rennert, Gad ; Imyanitov, Evgeny N. ; Mulligan, Anna Marie ; Glendon, Gord ; Andrulis, Irene L. ; Tchatchou, Andrine ; Toland, Amanda Ewart ; Pedersen, Inge Sokilde ; Thomassen, Mads ; Kruse, Torben A. ; Jensen, Uffe Birk ; Caligo, Maria A. ; Friedman, Eitan ; Zidan, Jamal ; Laitman, Yael ; Lindblom, Annika ; Melin, Beatrice ; Arver, Brita ; Loman, Niklas ; Rosenquist, Richard ; Olopade, Olufunmilayo I. ; Nussbaum, Robert L. ; Ramus, Susan J. ; Nathanson, Katherine L. ; Domchek, Susan M. ; Rebbeck, Timothy R. ; Arun, Banu K. ; Mitchell, Gillian ; Karlan, Bethy Y. ; Lester, Jenny ; Orsulic, Sandra ; Stoppa-Lyonnet, Dominique ; Thomas, Gilles ; Simard, Jacques ; Couch, Fergus J. ; Offit, Kenenth ; Easton, Douglas F. ; Chenevix-Trench, Georgia ; Antoniou, Antonis C. ; Mazoyer, Sylvie ; Phelan, Catherine M. ; Sinilnikova, Olga M. ; Cox, David G.
Introduction:
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers.
Methods:
We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals.
Results:
We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk.
Conclusions:
This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.
- 1 to 5