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Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Zeng, Chenjie; ,; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John L.; Milne, Roger L.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arason, Adalgeir; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bacot, Francois; Barrowdale, Daniel; Baynes, Caroline; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Blot, William J.; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Carpenter, Jane; Chang-Claude, Jenny; Choi, Ji-Yeob; Claes, Kathleen B. M.; Clarke, Christine; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; de la Hoya, Miguel; De Leeneer, Kim; Devilee, Peter; Diez, Orland; Domchek, Susan M.; Doody, Michele; Dorfling, Cecilia M.; Dörk, Thilo; dos-Santos-Silva, Isabel; Dumont, Martine; Dwek, Miriam; Dworniczak, Bernd; Egan, Kathleen; Eilber, Ursula; Einbeigi, Zakaria; Ejlertsen, Bent; Ellis, Steve; Frost, Debra; Lalloo, Fiona; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Friedlander, Michael; Friedman, Eitan; Gambino, Gaetana; Gao, Yu-Tang; Garber, Judy; García-Closas, Montserrat; Gehrig, Andrea; Damiola, Francesca; Lesueur, Fabienne; Mazoyer, Sylvie; Stoppa-Lyonnet, Dominique; Giles, Graham G.; Godwin, Andrew K.; Goldgar, David E.; González-Neira, Anna; Greene, Mark H.; Guénel, Pascal; Haeberle, Lothar; Haiman, Christopher A.; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V. O.; Hart, Steven; Hartikainen, Jaana M.; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Hogervorst, Frans B. L.; Verhoef, Senno; Hendricks, Carolyn B.; Hillemanns, Peter; Hollestelle, Antoinette; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jaworska-Bieniek, Katarzyna; Jensen, Uffe Birk; John, Esther M.; Joly Beauparlant, Charles; Jones, Michael; Kabisch, Maria; Kang, Daehee; Karlan, Beth Y.; Kauppila, Saila; Kerin, Michael J.; Khan, Sofia; Khusnutdinova, Elza; Knight, Julia A.; Konstantopoulou, Irene; Kraft, Peter; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Le Marchand, Loic; Lee, Chuen Neng; Lee, Min Hyuk; Lester, Jenny; Li, Jingmei; Liljegren, Annelie; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mai, Phuong L.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; McGuffog, Lesley; Meindl, Alfons; Menegaux, Florence; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Newcomb, Polly A.; Nord, Silje; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olswold, Curtis; Osorio, Ana; Papi, Laura; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Peeters, Stephanie; Peissel, Bernard; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Presneau, Nadege; Radice, Paolo; Rahman, Nazneen; Ramus, Susan J.; Rashid, Muhammad Usman; Rennert, Gad; Rhiem, Kerstin; Rudolph, Anja; Salani, Ritu; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K; Schmutzler, Rita K.; Schoemaker, Minouk J.; Schürmann, Peter; Seynaeve, Caroline; Shen, Chen-Yang; Shrubsole, Martha J.; Shu, Xiao-Ou; Sigurdson, Alice; Singer, Christian F.; Slager, Susan; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Swerdlow, Anthony; Szabo, Csilla I.; Tchatchou, Sandrine; Teixeira, Manuel R.; Teo, Soo H.; Terry, Mary Beth; Tessier, Daniel C.; Teulé, Alex; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda E.; Tung, Nadine; Turnbull, Clare; van den Ouweland, Ans M. W.; van Rensburg, Elizabeth J.; ven den Berg, David; Vijai, Joseph; Wang-Gohrke, Shan; Weitzel, Jeffrey N.; Whittemore, Alice S.; Winqvist, Robert; Wong, Tien Y.; Wu, Anna H.; Yannoukakos, Drakoulis; Yu, Jyh-Cherng; Pharoah, Paul D. P.; Hall, Per; Chenevix-Trench, Georgia; Dunning, Alison M.; Simard, Jacques; Couch, Fergus J.; Antoniou, Antonis C.; Easton, Douglas F.; Zheng, Wei; ,; ,; ,; , (Springer Nature, 2016-06-21)
Background: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk.
Method: We performed a fine-scale ...
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2
Orr, N.; Dudbridge, F.; Dryden, N.; Maguire, S.; Novo, D.; Perrakis, E.; Johnson, N.; Ghoussaini, M.; Hopper, J. L.; Southey, M. C.; Apicella, C.; Stone, J.; Schmidt, M. K.; Broeks, A.; Van't Veer, L. J.; Hogervorst, F. B.; Fasching, P. A.; Haeberle, L.; Ekici, A. B.; Beckmann, M. W.; Gibson, L.; Aitken, Z.; Warren, H.; Sawyer, E.; Tomlinson, I.; Kerin, M. J.; Miller, N.; Burwinkel, B.; Marme, F.; Schneeweiss, A.; Sohn, C.; Guenel, P.; Truong, T.; Cordina-Duverger, E.; Sanchez, M.; Bojesen, S. E.; Nordestgaard, B. G.; Nielsen, S. F.; Flyger, H.; Benitez, J.; Zamora, M. P.; Arias Perez, J. I.; Menendez, P.; Anton-Culver, H.; Neuhausen, S. L.; Brenner, H.; Dieffenbach, A. K.; Arndt, V.; Stegmaier, C.; Hamann, U.; Brauch, H.; Justenhoven, C.; Bruning, T.; Ko, Y.-D.; Nevanlinna, H.; Aittomaki, K.; Blomqvist, C.; Khan, S.; Bogdanova, N.; Dork, T.; Lindblom, A.; Margolin, S.; Mannermaa, A.; Kataja, V.; Kosma, V.-M.; Hartikainen, J. M.; Chenevix-Trench, G.; Beesley, J.; Lambrechts, D.; Moisse, M.; Floris, G.; Beuselinck, B.; Chang-Claude, J.; Rudolph, A.; Seibold, P.; Flesch-Janys, D.; Radice, P.; Peterlongo, P.; Peissel, B.; Pensotti, V.; Couch, F. J.; Olson, J. E.; Slettedahl, S.; Vachon, C.; Giles, G. G.; Milne, R. L.; McLean, C.; Haiman, C. A.; Henderson, B. E.; Schumacher, F.; Le Marchand, L.; Simard, J.; Goldberg, M. S.; Labreche, F.; Dumont, M.; Kristensen, V.; Alnaes, G. G.; Nord, S.; Borresen-Dale, A.-L.; Zheng, W.; Deming-Halverson, S.; Shrubsole, M.; Long, J.; Winqvist, R.; Pylkas, K.; Jukkola-Vuorinen, A.; Grip, M.; Andrulis, I. L.; Knight, J. A.; Glendon, G.; Tchatchou, S.; Devilee, P.; Tollenaar, R. A. E. M.; Seynaeve, C. M.; Van Asperen, C. J.; Garcia-Closas, M.; Figueroa, J.; Chanock, S. J.; Lissowska, J.; Czene, K.; Darabi, H.; Eriksson, M.; Klevebring, D.; Hooning, M. J.; Hollestelle, A.; van Deurzen, C. H. M.; Kriege, M.; Hall, P.; Li, J.; Liu, J.; Humphreys, K.; Cox, A.; Cross, S. S.; Reed, M. W. R.; Pharoah, P. D. P.; Dunning, A. M.; Shah, M.; Perkins, B. J.; Jakubowska, A.; Lubinski, J.; Jaworska-Bieniek, K.; Durda, K.; Ashworth, A.; Swerdlow, A.; Jones, M.; Schoemaker, M. J.; Meindl, A.; Schmutzler, R. K.; Olswold, C.; Slager, S.; Toland, A. E.; Yannoukakos, D.; Muir, K.; Lophatananon, A.; Stewart-Brown, S.; Siriwanarangsan, P.; Matsuo, K.; Ito, H.; Iwata, H.; Ishiguro, J.; Wu, A. H.; Tseng, C.-c.; Van Den Berg, D.; Stram, D. O.; Teo, S. H.; Yip, C. H.; Kang, P.; Ikram, M. K.; Shu, X.-O.; Lu, W.; Gao, Y.-T.; Cai, H.; Kang, D.; Choi, J.-Y.; Park, S. K.; Noh, D.-Y.; Hartman, M.; Miao, H.; Lim, W. Y.; Lee, S. C.; Sangrajrang, S.; Gaborieau, V.; Brennan, P.; Mckay, J.; Wu, P.-E.; Hou, M.-F.; Yu, J.-C.; Shen, C.-Y.; Blot, W.; Cai, Q.; Signorello, L. B.; Luccarini, C.; Bayes, C.; Ahmed, S.; Maranian, M.; Healey, C. S.; Gonzalez-Neira, A.; Pita, G.; Alonso, M. R.; Alvarez, N.; Herrero, D.; Tessier, D. C.; Vincent, D.; Bacot, F.; Hunter, D. J.; Lindstrom, S.; Dennis, J.; Michailidou, K.; Bolla, M. K.; Easton, D. F.; dos Santos Silva, I.; Fletcher, O.; Peto, J.; ,; ,; , (Oxford University Press (OUP), 2015-02-04)
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report a fine-mapping analysis of the 9q31.2 susceptibility locus using 43 160 cases and 42 ...