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Institute
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.
Dörk, Thilo ; Peterlongo, Peter ; Mannermaa, Arto ; Bolla, Manjeet K. ; Wang, Qin ; Dennis, Joe ; Ahearn, Thomas ; Andrulis, Irene L. ; Anton-Culver, Hoda ; Arndt, Volker ; Aronson, Kristan J. ; Augustinsson, Annelie ; Beane Freeman, Laura E. ; Beckmann, Matthias W. ; Beeghly-Fadiel, Alicia ; Behrens, Sabine ; Bermisheva, Marina ; Blomqvist, Carl ; Bogdanova, Natalia V. ; Bojesen, Stig E. ; Brauch, Hiltrud ; Brenner, Hermann ; Burwinkel, Barbara ; Canzian, Federico ; Chan, Tsun L. ; Chang-Claude, Jenny ; Chanock, Stephen J. ; Choi, Ji-Yeob ; Christiansen, Hans ; Clarke, Christine L. ; Couch, Fergus J. ; Czene, Kamila ; Daly, Mary B. ; dos-Santos-Silva, Isabel ; Dwek, Miriam ; Eccles, Diana M. ; Ekici, Arif B. ; Eriksson, Mikael ; Evans, D. Gareth ; Fasching, Peter A. ; Figueroa, Jonine ; Flyger, Henrik ; Fritschi, Lin ; Gabrielson, Marike ; Gago-Dominguez, Manuela ; Gao, Chi ; Gapstur, Susan M. ; García-Closas, Montserrat ; García-Sáenz, José A. ; Gaudet, Mia M. ; Giles, Graham G. ; Goldberg, Mark S. ; Goldgar, David E. ; Guenél, Pascal ; Haeberle, Lothar ; Haimann, Christopher A. ; Håkansson, Niclas ; Hall, Per ; Hamann, Ute ; Hartman, Mikael ; Hauke, Jan ; Hein, Alexander ; Hillemanns, Peter ; Hogervorst, Frans B. L. ; Hooning, Maartje J. ; Hopper, John L. ; Howell, Tony ; Huo, Dezheng ; Ito, Hidemi ; Iwasaki, Motoki ; Jakubowska, Anna ; Janni, Wolfgang ; John, Esther M. ; Jung, Audrey ; Kaaks, Rudolf ; Kang, Daehee ; Kapoor, Pooja Middha ; Khusnutdinova, Elza ; Kim, Sung-Won ; Kitahara, Cari M. ; Koutros, Stella ; Kraft, Peter ; Kristensen, Vessela N. ; Kwong, Ava ; Lambrechts, Diether ; Le Marchand, Loic ; Li, Jingmei ; Lindström, Sara ; Linet, Martha ; Lo, Wing-Yee ; Long, Jirong ; Lophatananon, Artitaya ; Lubiński, Jan ; Manoochehri, Mehdi ; Manoukian, Siranoush ; Margolin, Sara ; Martinez, Elena ; Matsuo, Keitaro ; Mavroudis, Dimitris ; Meindl, Alfons ; Menon, Usha ; Milne, Roger L. ; Mohd Taib, Nur Aishah ; Muir, Kenneth ; Mulligan, Anna Marie ; Neuhausen, Susan L. ; Nevanlinna, Heli ; Neven, Patrick ; Newman, William G. ; Offit, Kenneth ; Olopade, Olufunmilayo I. ; Olshan, Andrew F. ; Olson, Janet E. ; Olsson, Håkan ; Park, Sue K. ; Park-Simon, Tjoung-Won ; Peto, Julian ; Plaseska-Karanfilska, Dijana ; Pohl-Rescigno, Esther ; Presneau, Nadege ; Rack, Brigitte ; Radice, Paolo ; Rashid, Muhammad U. ; Rennert, Gad ; Rennert, Hedy S. ; Romero, Atocha ; Ruebner, Matthias ; Saloustros, Emmanouil ; Schmidt, Marjanka K. ; Schmutzler, Rita K. ; Schneider, Michael O. ; Schoemaker, Minouk J. ; Scott, Christopher ; Shen, Chen-Yang ; Shu, Xiao-Ou ; Simard, Jaques ; Slager, Susan ; Smichkoska, Snezhana ; Southey, Melissa C. ; Spinelli, John J. ; Stone, Jennifer ; Surowy, Harald ; Swerdlow, Anthony J. ; Tamimi, Rulla M. ; Tapper, William J. ; Teo, Soo H. ; Terry, Mary Beth ; Toland, Amanda E. ; Tollenaar, Rob A. E. M. ; Torres, Diana ; Torres-Mejía, Gabriela ; Troester, Melissa A. ; Truong, Thérèse ; Tsugane, Shoichiro ; Untch, Michael ; Vachon, Celine M. ; van den Ouweland, Ans M. W. ; van Veen, Elke M. ; Vijai, Joseph ; Wendt, Camilla ; Wolk, Alicja ; Yu, Jyh-Cherng ; Zheng, Wei ; Ziogas, Argyrios ; Ziv, Elad ; Dunnig, Alison ; Pharaoh, Paul D. P. ; Schindler, Detlev ; Devilee, Peter ; Easton, Douglas F.
Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk associations of others remain unknown. The gene for FA type C, FANCC, has been proposed as a breast cancer susceptibility gene based on epidemiological and sequencing studies. We used the Oncoarray project to genotype two truncating FANCC variants (p.R185X and p.R548X) in 64,760 breast cancer cases and 49,793 controls of European descent. FANCC mutations were observed in 25 cases (14 with p.R185X, 11 with p.R548X) and 26 controls (18 with p.R185X, 8 with p.R548X). There was no evidence of an association with the risk of breast cancer, neither overall (odds ratio 0.77, 95%CI 0.44–1.33, p = 0.4) nor by histology, hormone receptor status, age or family history. We conclude that the breast cancer risk association of these two FANCC variants, if any, is much smaller than for BRCA1, BRCA2 or PALB2 mutations. If this applies to all truncating variants in FANCC it would suggest there are differences between FA genes in their roles on breast cancer risk and demonstrates the merit of large consortia for clarifying risk associations of rare variants.
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