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- DOI: 10.1038/ng.2563
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Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Michailidou, K; Hall, P; Gonzalez-Neira, A; Ghoussaini, M; Dennis, J; Milne, R L; Schmidt, M K; Chang-Claude, J; Bojesen, S E; Bolla, M K; Wang, Q; Dicks, E; Lee, A; Turnbull, C; Rahman, N; Fletcher, O; Peto, J; Gibson, L; Dos Santos Silva, I; Nevanlinna, H; Muranen, T A; Aittomaki, K; Blomqvist, C; Czene, K; Irwanto, A; Liu, J; Waisfisz, Q; Meijers-Heijboer, H; Adank, M; van der Luijt, R B; Hein, R; Dahmen, N; Beckman, L; Meindl, A; Schmutzler, R K; Muller-Myhsok, B; Lichtner, P; Hopper, J L; Southey, M C; Makalic, E; Schmidt, D F; Uitterlinden, A G; Hofman, A; Hunter, D J; Chanock, S J; Vincent, D; Bacot, F; Tessier, D C; Canisius, S; Wessels, L F; Haiman, C A; Shah, M; Luben, R; Brown, J; Luccarini, C; Schoof, N; Humphreys, K; Li, J; Nordestgaard, B G; Nielsen, S F; Flyger, H; Couch, F J; Wang, X; Vachon, C; Stevens, K N; Lambrechts, D; Moisse, M; Paridaens, R; Christiaens, M R; Rudolph, A; Nickels, S; Flesch-Janys, D; Johnson, N; Aitken, Z; Aaltonen, K; Heikkinen, T; Broeks, A; Veer, L J; van der Schoot, C E; Guenel, P; Truong, T; Laurent-Puig, P; Menegaux, F; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Zamora, M P; Perez, J I; Pita, G; Alonso, M R; Cox, A; Brock, I W; Cross, S S; Reed, M W; Sawyer, E J; Tomlinson, I; Kerin, M J; Miller, N; Henderson, B E; Schumacher, F; Le Marchand, L; Andrulis, I L; Knight, J A; Glendon, G; Mulligan, A M; Lindblom, A; Margolin, S; Hooning, M J; Hollestelle, A; van den Ouweland, A M; Jager, A; Bui, Q M; Stone, J; Dite, G S; Apicella, C; Tsimiklis, H; Giles, G G; Severi, G; Baglietto, L; Fasching, P A; Haeberle, L; Ekici, A B; Beckmann, M W; Brenner, H; Muller, H; Arndt, V; Stegmaier, C; Swerdlow, A; Ashworth, A; Orr, N; Jones, M; Figueroa, J; Lissowska, J; Brinton, L; Goldberg, M S; Labreche, F; Dumont, M; Winqvist, R; Pylkas, K; Jukkola-Vuorinen, A; Grip, M; Brauch, H; Hamann, U; Bruning, T; Radice, P; Peterlongo, P; Manoukian, S; Bonanni, B; Devilee, P; Tollenaar, R A; Seynaeve, C; van Asperen, C J; Jakubowska, A; Lubinski, J; Jaworska, K; Durda, K; Mannermaa, A; Kataja, V; Kosma, V M; Hartikainen, J M; Bogdanova, N V; Antonenkova, N N; Dork, T; Kristensen, V N; Anton-Culver, H; Slager, S; Toland, A E; Edge, S; Fostira, F; Kang, D; Yoo, K Y; Noh, D Y; Matsuo, K; Ito, H; Iwata, H; Sueta, A; Wu, A H; Tseng, C C; Van Den Berg, D; Stram, D O; Shu, X O; Lu, W; Gao, Y T; Cai, H; Teo, S H; Yip, C H; Phuah, S Y; Cornes, B K; Hartman, M; Miao, H; Lim, W Y; Sng, J H; Muir, K; Lophatananon, A; Stewart-Brown, S; Siriwanarangsan, P; Shen, C Y; Hsiung, C N; Wu, P E; Ding, S L; Sangrajrang, S; Gaborieau, V; Brennan, P; McKay, J; Blot, W J; Signorello, L B; Cai, Q; Zheng, W; Deming-Halverson, S; Shrubsole, M; Long, J; Simard, J; Garcia-Closas, M; Pharoah, P D; Chenevix-Trench, G; Dunning, A M; Benitez, J; Easton, D F
Nat Genet. 2013;45(4):353-61.
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Full-text held externally
- DOI: 10.1038/ng.2563
Abstract
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for approximately 9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 x 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.
Bibliographic metadata
- Michailidou, K
- Hall, P
- Gonzalez-Neira, A
- Ghoussaini, M
- Dennis, J
- Milne, R L
- Schmidt, M K
- Chang-Claude, J
- Bojesen, S E
- Bolla, M K
- Wang, Q
- Dicks, E
- Lee, A
- Turnbull, C
- Rahman, N
- Fletcher, O
- Peto, J
- Gibson, L
- Dos Santos Silva, I
- Nevanlinna, H
- Muranen, T A
- Aittomaki, K
- Blomqvist, C
- Czene, K
- Irwanto, A
- Liu, J
- Waisfisz, Q
- Meijers-Heijboer, H
- Adank, M
- van der Luijt, R B
- Hein, R
- Dahmen, N
- Beckman, L
- Meindl, A
- Schmutzler, R K
- Muller-Myhsok, B
- Lichtner, P
- Hopper, J L
- Southey, M C
- Makalic, E
- Schmidt, D F
- Uitterlinden, A G
- Hofman, A
- Hunter, D J
- Chanock, S J
- Vincent, D
- Bacot, F
- Tessier, D C
- Canisius, S
- Wessels, L F
- Haiman, C A
- Shah, M
- Luben, R
- Brown, J
- Luccarini, C
- Schoof, N
- Humphreys, K
- Li, J
- Nordestgaard, B G
- Nielsen, S F
- Flyger, H
- Couch, F J
- Wang, X
- Vachon, C
- Stevens, K N
- Lambrechts, D
- Moisse, M
- Paridaens, R
- Christiaens, M R
- Rudolph, A
- Nickels, S
- Flesch-Janys, D
- Johnson, N
- Aitken, Z
- Aaltonen, K
- Heikkinen, T
- Broeks, A
- Veer, L J
- van der Schoot, C E
- Guenel, P
- Truong, T
- Laurent-Puig, P
- Menegaux, F
- Marme, F
- Schneeweiss, A
- Sohn, C
- Burwinkel, B
- Zamora, M P
- Perez, J I
- Pita, G
- Alonso, M R
- Cox, A
- Brock, I W
- Cross, S S
- Reed, M W
- Sawyer, E J
- Tomlinson, I
- Kerin, M J
- Miller, N
- Henderson, B E
- Schumacher, F
- Le Marchand, L
- Andrulis, I L
- Knight, J A
- Glendon, G
- Mulligan, A M
- Lindblom, A
- Margolin, S
- Hooning, M J
- Hollestelle, A
- van den Ouweland, A M
- Jager, A
- Bui, Q M
- Stone, J
- Dite, G S
- Apicella, C
- Tsimiklis, H
- Giles, G G
- Severi, G
- Baglietto, L
- Fasching, P A
- Haeberle, L
- Ekici, A B
- Beckmann, M W
- Brenner, H
- Muller, H
- Arndt, V
- Stegmaier, C
- Swerdlow, A
- Ashworth, A
- Orr, N
- Jones, M
- Figueroa, J
- Lissowska, J
- Brinton, L
- Goldberg, M S
- Labreche, F
- Dumont, M
- Winqvist, R
- Pylkas, K
- Jukkola-Vuorinen, A
- Grip, M
- Brauch, H
- Hamann, U
- Bruning, T
- Radice, P
- Peterlongo, P
- Manoukian, S
- Bonanni, B
- Devilee, P
- Tollenaar, R A
- Seynaeve, C
- van Asperen, C J
- Jakubowska, A
- Lubinski, J
- Jaworska, K
- Durda, K
- Mannermaa, A
- Kataja, V
- Kosma, V M
- Hartikainen, J M
- Bogdanova, N V
- Antonenkova, N N
- Dork, T
- Kristensen, V N
- Anton-Culver, H
- Slager, S
- Toland, A E
- Edge, S
- Fostira, F
- Kang, D
- Yoo, K Y
- Noh, D Y
- Matsuo, K
- Ito, H
- Iwata, H
- Sueta, A
- Wu, A H
- Tseng, C C
- Van Den Berg, D
- Stram, D O
- Shu, X O
- Lu, W
- Gao, Y T
- Cai, H
- Teo, S H
- Yip, C H
- Phuah, S Y
- Cornes, B K
- Hartman, M
- Miao, H
- Lim, W Y
- Sng, J H
- Muir, K
- Lophatananon, A
- Stewart-Brown, S
- Siriwanarangsan, P
- Shen, C Y
- Hsiung, C N
- Wu, P E
- Ding, S L
- Sangrajrang, S
- Gaborieau, V
- Brennan, P
- McKay, J
- Blot, W J
- Signorello, L B
- Cai, Q
- Zheng, W
- Deming-Halverson, S
- Shrubsole, M
- Long, J
- Simard, J
- Garcia-Closas, M
- Pharoah, P D
- Chenevix-Trench, G
- Dunning, A M
- Benitez, J
- Easton, D F
- Michailidou, Kyriaki Hall, Per Gonzalez-Neira, Anna Ghoussaini, Maya Dennis, Joe Milne, Roger L Schmidt, Marjanka K Chang-Claude, Jenny Bojesen, Stig E Bolla, Manjeet K Wang, Qin Dicks, Ed Lee, Andrew Turnbull, Clare Rahman, Nazneen Breast and Ovarian Cancer Susceptibility Collaboration Fletcher, Olivia Peto, Julian Gibson, Lorna Dos Santos Silva, Isabel Nevanlinna, Heli Muranen, Taru A Aittomaki, Kristiina Blomqvist, Carl Czene, Kamila Irwanto, Astrid Liu, Jianjun Waisfisz, Quinten Meijers-Heijboer, Hanne Adank, Muriel Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) van der Luijt, Rob B Hein, Rebecca Dahmen, Norbert Beckman, Lars Meindl, Alfons Schmutzler, Rita K Muller-Myhsok, Bertram Lichtner, Peter Hopper, John L Southey, Melissa C Makalic, Enes Schmidt, Daniel F Uitterlinden, Andre G Hofman, Albert Hunter, David J Chanock, Stephen J Vincent, Daniel Bacot, Francois Tessier, Daniel C Canisius, Sander Wessels, Lodewyk F A Haiman, Christopher A Shah, Mitul Luben, Robert Brown, Judith Luccarini, Craig Schoof, Nils Humphreys, Keith Li, Jingmei Nordestgaard, Borge G Nielsen, Sune F Flyger, Henrik Couch, Fergus J Wang, Xianshu Vachon, Celine Stevens, Kristen N Lambrechts, Diether Moisse, Matthieu Paridaens, Robert Christiaens, Marie-Rose Rudolph, Anja Nickels, Stefan Flesch-Janys, Dieter Johnson, Nichola Aitken, Zoe Aaltonen, Kirsimari Heikkinen, Tuomas Broeks, Annegien Veer, Laura J Van't van der Schoot, C Ellen Guenel, Pascal Truong, Therese Laurent-Puig, Pierre Menegaux, Florence Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Zamora, M Pilar Perez, Jose Ignacio Arias Pita, Guillermo Alonso, M Rosario Cox, Angela Brock, Ian W Cross, Simon S Reed, Malcolm W R Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Henderson, Brian E Schumacher, Fredrick Le Marchand, Loic Andrulis, Irene L Knight, Julia A Glendon, Gord Mulligan, Anna Marie kConFab Investigators stralian Ovarian Cancer Study Group Lindblom, Annika Margolin, Sara Hooning, Maartje J Hollestelle, Antoinette van den Ouweland, Ans M W Jager, Agnes Bui, Quang M Stone, Jennifer Dite, Gillian S Apicella, Carmel Tsimiklis, Helen Giles, Graham G Severi, Gianluca Baglietto, Laura Fasching, Peter A Haeberle, Lothar Ekici, Arif B Beckmann, Matthias W Brenner, Hermann Muller, Heiko Arndt, Volker Stegmaier, Christa Swerdlow, Anthony Ashworth, Alan Orr, Nick Jones, Michael Figueroa, Jonine Lissowska, Jolanta Brinton, Louise Goldberg, Mark S Labreche, France Dumont, Martine Winqvist, Robert Pylkas, Katri Jukkola-Vuorinen, Arja Grip, Mervi Brauch, Hiltrud Hamann, Ute Bruning, Thomas GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Bonanni, Bernardo Devilee, Peter Tollenaar, Rob A E M Seynaeve, Caroline van Asperen, Christi J Jakubowska, Anna Lubinski, Jan Jaworska, Katarzyna Durda, Katarzyna Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Hartikainen, Jaana M Bogdanova, Natalia V Antonenkova, Natalia N Dork, Thilo Kristensen, Vessela N Anton-Culver, Hoda Slager, Susan Toland, Amanda E Edge, Stephen Fostira, Florentia Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Matsuo, Keitaro Ito, Hidemi Iwata, Hiroji Sueta, Aiko Wu, Anna H Tseng, Chiu-Chen Van Den Berg, David Stram, Daniel O Shu, Xiao-Ou Lu, Wei Gao, Yu-Tang Cai, Hui Teo, Soo Hwang Yip, Cheng Har Phuah, Sze Yee Cornes, Belinda K Hartman, Mikael Miao, Hui Lim, Wei Yen Sng, Jen-Hwei Muir, Kenneth Lophatananon, Artitaya Stewart-Brown, Sarah Siriwanarangsan, Pornthep Shen, Chen-Yang Hsiung, Chia-Ni Wu, Pei-Ei Ding, Shian-Ling Sangrajrang, Suleeporn Gaborieau, Valerie Brennan, Paul McKay, James Blot, William J Signorello, Lisa B Cai, Qiuyin Zheng, Wei Deming-Halverson, Sandra Shrubsole, Martha Long, Jirong Simard, Jacques Garcia-Closas, Montse Pharoah, Paul D P Chenevix-Trench, Georgia Dunning, Alison M Benitez, Javier Easton, Douglas F United States Nature genetics Nat Genet. 2013 Apr;45(4):353-61. doi: 10.1038/ng.2563.