Accès ouvert déclaré
2014
article
Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
Roger L. Milne, Barbara Burwinkel, Kyriaki Michailidou, José Ignacio Arias Pérez, M. Pilar Zamora, Primitiva Menéndez‐Rodríguez, David Hardisson, Marta Mendiola, Anna González‐Neira, Guillermo Pita, M. Rosario Alonso, Joe Dennis, Qin Wang, Manjeet K. Bolla, Anthony J. Swerdlow, Alan Ashworth, Nick Orr, Minouk J. Schoemaker, Yon‐Dschun Ko, Hiltrud Brauch, Ute Hamann, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Sandrine Tchatchou, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Jingmei Li, Judith S. Brand, Hermann Brenner, Aida Karina Dieffenbach, Volker Arndt, Christa Stegmaier, Diether Lambrechts, Gilian Peuteman, Marie-Rose Christiaens, Ann Smeets, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska–Bieniek, Katazyna Durda, Mikael Hartman, Hui Miao, Wei Yen Lim, Ching Wan Chan, F Marmé, Rongxi Yang, Peter Bugert, Annika Lindblom, Sara Margolin, Montserrat García‐Closas, Stephen J. Chanock, Jolanta Lissowska, Jonine D. Figueroa, Stig E. Bojesen, Børge G. Nordestgaard, Henrik Flyger, Maartje J. Hooning, Mieke Kriege, Ans M.W. van den Ouweland, Linetta B. Koppert, Olivia Fletcher, Nichola Johnson, Isabel dos‐Santos‐Silva, Julian Peto, Wei Zheng, Sandra Deming-Halverson, Martha J. Shrubsole, Jirong Long, Jenny Chang‐Claude, Anja Rudolph, Petra Seibold, Dieter Flesch‐Janys, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Angela Cox, Simon S. Cross, Malcolm Reed, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Linde M. Braaf, Daehee Kang, Ji‐Yeob Choi, Sue K. Park, Dong‐Young Noh, Jacques Simard, Martine Dumont, Mark S. Goldberg, France Labrèche, Peter A. Fasching, Alexander Hein, Arif B. Ekici, Matthias W. Beckmann, Paolo Radice, Paolo Peterlongo, Jacopo Azzollini, Monica Barile, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, John L. Hopper, Daniel F. Schmidt, Enes Makalic, Melissa C. Southey, Soo‐Hwang Teo, Cheng Har Yip, Kavitta Sivanandan, Wan-Ting Tay, Chen‐Yang Shen, Chia‐Ni Hsiung, Jyh‐Cherng Yu, Ming‐Feng Hou, Pascal Guénel, Thérèse Truong, Claire Mulot, William J. Blot, Qiuyin Cai, Heli Nevanlinna, Taru Muranen, Kristiina Aittomäki, Carl Blomqvist, Anna H. Wu, Chiu-Chen Tseng, David Van Den Berg, Daniel O. Stram, Natalia Bogdanova, Thilo Dörk, Kenneth Muir, Artitaya Lophatananon, Sarah Stewart‐Brown, Pornthep Siriwanarangsan, Arto Mannermaa, Vesa Kataja, Veli‐Matti Kosma, Jaana M. Hartikainen, Xiao‐Ou Shu, Wei Lu, Yu‐Tang Gao, Ben Zhang, Fergus J. Couch, Amanda E. Toland, Drakoulis Yannoukakos, Suleeporn Sangrajrang, James McKay, Xianshu Wang, Janet E. Olson, Celine M. Vachon, Kristen S. Purrington, Gianluca Severi, Laura Baglietto, Christopher A. Haiman, Brian E. Henderson, Fredrick R. Schumacher, Loı̈c Le Marchand, Peter Devilee, Robert A.E.M. Tollenaar, Caroline Seynaeve, Kamila Czene, Mikael Eriksson, Keith Humphreys, Hatef Darabi, Shahana Ahmed, Mitul Shah, Paul D.P. Pharoah, Per Hall, Graham G. Giles, Javier Benı́tez, Alison M. Dunning, Georgia Chenevix‐Trench, Douglas F. Easton, Andrew Berchuck, Rosalind A. Eeles, Ali Amin Al Olama, Zsofia Kote‐Jarai, Sara Benlloch, Antonis C. Antoniou, Lesley McGuffog, Ken Offit, Andrew Lee, Ed Dicks, Daniel C. Tessier, François Bacot, Daniel Vincent, Sylvie LaBoissière, Frederic Robidoux, Sune F. Nielsen, Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffrey Meyer, Maggie S Angelakos, Judi Maskiell, C. Ellen van der Schoot, Emiel J. Rutgers, Senno Verhoef, Frans B.L. Hogervorst, Prat Boonyawongviroj, Pornthep Siriwanarungsan, Michael Schrauder, Matthias Rübner, Sonja Oeser, Silke Landrith, E. Lynne Williams, Elaine Ryder-Mills, Kara Sargus, Niall McInerney, Gabrielle Colleran, Andrew Rowan, Angela Jones, Christof Sohn, Andeas Schneeweiß, Núria Álvarez, James V. Lacey, Sophia Wang, Huiyan Ma, Yani Lu, Dennis Deapen, Rich Pinder, Eunjung Lee, Pam Horn-Ross, Peggy Reynolds, David R. Nelson, H Ziegler, Sonja Wolf, Volker Hermann, Wing‐Yee Lo, Christina Justenhoven, Christian Baisch, Hans‐Peter Fischer, Thomas Brüning, Beate Pesch, Sylvia Rabstein, Anne Lotz, Volker Harth, Tuomas Heikkinen, Irja Erkkilä, Kirsimari Aaltonen, Karl von Smitten, Natalia Antonenkova, Peter Hillemanns, Hans Christiansen, Eija Myöhänen, Helena Kemiläinen, Heather Thorne, Eveline Niedermayr, David D.L. Bowtell, Anna DeFazio, Dorota M. Gertig, Andrew R. Green, Penelope M. Webb, P. A. Parsons, Nicholas K. Hayward, David C. Whiteman, Annie Fung, June Yashiki, Dominiek Smeets, Thomas Van Brussel, Kathleen Corthouts, Nadia Obi, Judith Heinz, Sabine Behrens, Ursula Eilber, Muhabbet Celik, Til Olchers, Siranoush Manoukian, Bernard Peissel, Giulietta Scuvera, Daniela Zaffaroni, Bernardo Bonanni, Irène Feroce, Angela Maniscalco, Alessandra Rossi, Loris Bernard, Martine Tranchant, Marie‐France Valois, Annie Turgeon, Léa Héguy, Phuah Sze Yee, Peter Choon Eng Kang, Kang In Nee, Shivaani Mariapun, Sook-Yee Yoon, Daphne Lee, Teh Yew Ching, Nur Aishah Mohd Taib, Meeri Otsukka, Kari Mononen, Teresa Selander, Nayana Weerasooriya, OFBCR staff, Elly MM Krol-Warmerdam, Jan J. Molenaar, Jannet Blom, Louise A. Brinton, Neonila Szeszenia‐Dąbrowska, Beata Pepłońska, Witold Zatoński, Pei Chao, Michael Stagner, Petra Bos, Ellen Crepin, Anja Nieuwlaat, Annette Heemskerk, S.E. Higham, Helen Cramp, Dan Connley, Sabapathy P. Balasubramanian, Ian W. Brock, Don Conroy, Caroline Baynes, Kimberley Chua
59Citations signalées, ce qui n’est pas une note de qualité
117Institutions déclarées
25Pays d’affiliation déclarés
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Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2.9 × 10(-6)], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 × 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 × 10(-17)). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for ATXN7-K264R, OR = 1.07 (95% CI = 1.05-1.10, P = 1.0 × 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 × 10(-10)). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
- Date Crossref
- 18/06/2014
- Éditeur
- Oxford University Press (OUP)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
BRCA gene mutations in cancerGenetic Associations and EpidemiologyNutrition, Genetics, and Disease