Large-scale genotyping identifies 41 new loci associated with breast cancer risk

van den Berg, David; Res, Hereditary Breast Ovarian Canc; Susceptibility, Breast Ovarian Canc; Schmidt, Marjanka K.; Grp, Australian Ovarian Can Study; Silva, Isabel Dos Santos; Van Der Luijt, R. B.; Wang, Qin; dos Santos Silva, Isabel; Turnbull, Clare; Michailidou, Kyriaki; Rahman, Nazneen; Santos Silva, Isabel dos; Hall, Per; Gonzalez-Neira, Anna; Ghoussaini, Maya; van der Luijt, Rob B.; Dennis, Joe; Veer, Lj J. V.; Rl, Milne; Schmutzler, Rita K.; Chang-Claude, Jenny; Van Der Schoot, C. Ellen; Waisfisz, Quinten; Southey, Melissa C.; Dicks, Ed; Lee, Andrew; Se, Bojesen; Uitterlinden, Andre G.; Schmidt, Daniel F.; Van Den Ouweland, A. M. W.; Rosario Alonso, M.; Fletcher, Olivia; Tessier, Daniel C.; Wessels, Lodewyk F. A.; Peto, Julian; Nevanlinna, Heli; Gibson, Lorna; Aittomäki, Kristiina; Vincent, Daniel; Tollenaar, Robert A. E. M.; Blomqvist, Carl; Czene, Kamila; Milne, Roger L.; Van Asperen, C. J.; Irwanto, Astrid; Wang, Xianshu S.; Shah, Mitul; Bojesen, Stig Egil; Liu, Jianjun Jj; Stevens, Kristen N.; Bolla, Manjeet K.; Meijers-Heijboer, Hanne; Schoof, Nils; Adank, Muriel; Hein, Rebecca; Dahmen, Norbert; Muranen, Taru A.; Beckman, Lars; Meindl, Alfons; Vachon, Celine M.; Lichtner, Peter; Makalic, Enes; Rudolph, Anja; Hofman, Albert; Nordestgaard, Børge G.; Reed, Malcolm W. R.; van der Schoot, Ce Ellen; Sawyer, Elinor J.; Bacot, François; Müller-Myhsok, Bertram; Canisius, Sander; van den Ouweland, Ans M. W.; Hopper, John L.; Luben, Robert; Brown, Judith; Truong, Thérèse; Luccarini, Craig; Hunter, David J.; Chanock, Stephen J.; Humphreys, Keith; Schneeweiss, Andreas; Flyger, Henrik L.; Investigators, kConFab; Sohn, Christof; Zamora, M. Pilar; Haiman, Christopher A.; Muller-Myhsok, B.; Lambrechts, Diether; Moisse, Matthieu; (Hebon), Hereditary Breast and Ovarian Cancer Research Group Netherlands; Paridaens, Robert; Swerdlow, Anthony; Tomlinson, Ian P.; Li, Jingmei M.; Nickels, Stefan; Nielsen, Sune F.; Flesch-Janys, Dieter; Johnson, Nichola; Schumacher, Fredrick; Nordestgaard, Bg-Ø. G.; Couch, Fergus J.; Aitken, Zoe; van Asperen, Christi J.; Aaltonen, Kirsimari; Swerdlown, A.; Heikkinen, Tuomas; Broeks, Annegien; Christiaens, Marie-Rose; Guénel, Pascal; Laurent-Puig, Pierre; Menegaux, Florence; Stone, Jennifer; Marme, Frederik; Tsimiklis, Helen; Severi, Gianluca; Pita, Guillermo; Alonso, Mr Rosario; Cox, Angela; Toland, Amanda E.; Burwinkel, Barbara; Cross, Simon Ss; Yoo, Keun-Young; Stegmaier, Christa; Miller, Nicola; Brock, Ian W.; Wu, Anna H.; Le Marchand, Loic; Tseng, Chiu-Chen; Burwinke, B.; Glendon, Gord; Stram, Daniel O.; Kerin, Michael J.; Winqvist, Robert; Lindblom, Annika; Margolin, Sara; Shu, Xiao-Ou; Henderson, Brian E.; Pylkäs, Katri; Yip, Cheng Har; Dos Santos Silva, I.; Hollestelle, Antoinette; Teo, Soo-Hwang; Mk, Schmidt; Andrulis, Irene L.; Van den Berg, D.; Knight, Julia A.; Jager, Agnes; Radice, Paolo; Beckmann, Matthias W.; Mulligan, Anna Marie; Perez, Ji I. A.; Sng, Jen-Hwei; Apicella, Carmel; Wu, Pei-Ei; Giles, Graham Gg; Beckmann, Mw; Seynaeve, Caroline M.; Hooning, Maartje J.; Shen, Chen-Yang; Baglietto, Laura; Collaboration, Breast and Ovarian Cancer Susceptibility; Bui, Quang M.; Ellen van der Schoot, C.; Dite, Gillian S.; Haeberle, Lothar; Ekici, Arif B.; Signorello, Lisa B.; Brenner, Hermann; Arndt, Volker; Pilar Zamora, M.; Fasching, Peter A.; Slager, Susan; Ashworth, Alan; Orr, Nick; Jones, Michael; Figueroa, Jonine D.; Lissowska, Jolanta; Müller, Heiko; Brinton, Louise A.; Group, stralian Ovarian Cancer Study; Sueta, Aiko; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; Jukkola-Vuorinen, Arja; Grip, Mervi; Brauch, Hiltrud; Mk, Bolla; Hamann, Ute; Brüning, Thomas; Beckmann, M. W.; Peterlongo, Paolo; Muller, H.; Bonanni, Bernardo; Devilee, Peter; Stewart-Brown, Sarah L.; Manoukian, Siranoush; Jakubowska, Anna; Siriwanarangsan, Pornthep; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Mannermaa, Arto; Kataja, Vesa; Sangrajrang, Suleeporn; Manouldan, S.; Marchand, Loic Le; Antonenkova, Natalia Nn; Kosma, Veli-Matti; Hartikainen, Jaana M.; Anton-Culver, Hoda; Bogdanova, Natalia Viktorovna; Zheng, Wei; Edge, Stephen; Dörk, Thilo; Kristensen, Vessela N.; Fostira, Florentia; Shrubsole, Martha; Kang, Daehee; Simard, Jacques; Network, GENICA (Gene Environment Interaction and Breast Cancer in Germany); Matsuo, Keitaro; Noh, Dong-Young; Ito, Hidemi; Dork, T.; Iwata, Hiroji; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Phuah, Sze Yee; Hartman, Mikael; Cornes, Belinda K.; Miao, Hui; Lim, Wei Yen; Muir, Kenneth R.; Lophatananon, Artitaya; Hsiung, Chia-Ni; Häberle, Lothar; Ding, Shian-Ling; Gaborieau, Valerie; Brennan, Paul; McKay, James; Blot, William J.; Beckmann, Lars; Cai, Qiuyin Y.; Arias Pérez, José Ignacio; Deming-Halverson, Sandra L.; Long, Jirong R.; Garcia-Closas, Montserrat; Pharoah, Paul D. Pd; Chenevix-Trench, Georgia; Dunning, Alison M.; Benitez, Javier; Genica Gene Environm Interaction, B.; Easton, Douglas F.; Others,; Purrington, Kristen

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Kamila Czene
van den Berg et al., 2013

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@article{van den Berg2013,
  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 ∼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 &lt; 5 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.},
  author = {van den Berg, David and Res, Hereditary Breast Ovarian Canc and Susceptibility, Breast Ovarian Canc and Schmidt, Marjanka K. and Grp, Australian Ovarian Can Study and Silva, Isabel Dos Santos and Van Der Luijt, R. B. and Wang, Qin and dos Santos Silva, Isabel and Turnbull, Clare and Michailidou, Kyriaki and Rahman, Nazneen and Santos Silva, Isabel dos and Hall, Per and Gonzalez-Neira, Anna and Ghoussaini, Maya and van der Luijt, Rob B. and Dennis, Joe and Veer, Lj J. V. and Rl, Milne and Schmutzler, Rita K. and Chang-Claude, Jenny and Van Der Schoot, C. Ellen and Waisfisz, Quinten and Southey, Melissa C. and Dicks, Ed and Lee, Andrew and Se, Bojesen and Uitterlinden, Andre G. and Schmidt, Daniel F. and Van Den Ouweland, A. M. W. and Rosario Alonso, M. and Fletcher, Olivia and Tessier, Daniel C. and Wessels, Lodewyk F. A. and Peto, Julian and Nevanlinna, Heli and Gibson, Lorna and Aittomäki, Kristiina and Vincent, Daniel and Tollenaar, Robert A. E. M. and Blomqvist, Carl and Czene, Kamila and Milne, Roger L. and Van Asperen, C. J. and Irwanto, Astrid and Wang, Xianshu S. and Shah, Mitul and Bojesen, Stig Egil and Liu, Jianjun Jj and Stevens, Kristen N. and Bolla, Manjeet K. and Meijers-Heijboer, Hanne and Schoof, Nils and Adank, Muriel and Hein, Rebecca and Dahmen, Norbert and Muranen, Taru A. and Beckman, Lars and Meindl, Alfons and Vachon, Celine M. and Lichtner, Peter and Makalic, Enes and Rudolph, Anja and Hofman, Albert and Nordestgaard, Børge G. and Reed, Malcolm W. R. and van der Schoot, Ce Ellen and Sawyer, Elinor J. and Bacot, François and Müller-Myhsok, Bertram and Canisius, Sander and van den Ouweland, Ans M. W. and Hopper, John L. and Luben, Robert and Brown, Judith and Truong, Thérèse and Luccarini, Craig and Hunter, David J. and Chanock, Stephen J. and Humphreys, Keith and Schneeweiss, Andreas and Flyger, Henrik L. and Investigators, kConFab and Sohn, Christof and Zamora, M. Pilar and Haiman, Christopher A. and Muller-Myhsok, B. and Lambrechts, Diether and Moisse, Matthieu and (Hebon), Hereditary Breast and Ovarian Cancer Research Group Netherlands and Paridaens, Robert and Swerdlow, Anthony and Tomlinson, Ian P. and Li, Jingmei M. and Nickels, Stefan and Nielsen, Sune F. and Flesch-Janys, Dieter and Johnson, Nichola and Schumacher, Fredrick and Nordestgaard, Bg-Ø. G. and Couch, Fergus J. and Aitken, Zoe and van Asperen, Christi J. and Aaltonen, Kirsimari and Swerdlown, A. and Heikkinen, Tuomas and Broeks, Annegien and Christiaens, Marie-Rose and Guénel, Pascal and Laurent-Puig, Pierre and Menegaux, Florence and Stone, Jennifer and Marme, Frederik and Tsimiklis, Helen and Severi, Gianluca and Pita, Guillermo and Alonso, Mr Rosario and Cox, Angela and Toland, Amanda E. and Burwinkel, Barbara and Cross, Simon Ss and Yoo, Keun-Young and Stegmaier, Christa and Miller, Nicola and Brock, Ian W. and Wu, Anna H. and Le Marchand, Loic and Tseng, Chiu-Chen and Burwinke, B. and Glendon, Gord and Stram, Daniel O. and Kerin, Michael J. and Winqvist, Robert and Lindblom, Annika and Margolin, Sara and Shu, Xiao-Ou and Henderson, Brian E. and Pylkäs, Katri and Yip, Cheng Har and Dos Santos Silva, I. and Hollestelle, Antoinette and Teo, Soo-Hwang and Mk, Schmidt and Andrulis, Irene L. and Van den Berg, D. and Knight, Julia A. and Jager, Agnes and Radice, Paolo and Beckmann, Matthias W. and Mulligan, Anna Marie and Perez, Ji I. A. and Sng, Jen-Hwei and Apicella, Carmel and Wu, Pei-Ei and Giles, Graham Gg and Beckmann, Mw and Seynaeve, Caroline M. and Hooning, Maartje J. and Shen, Chen-Yang and Baglietto, Laura and Collaboration, Breast and Ovarian Cancer Susceptibility and Bui, Quang M. and Ellen van der Schoot, C. and Dite, Gillian S. and Haeberle, Lothar and Ekici, Arif B. and Signorello, Lisa B. and Brenner, Hermann and Arndt, Volker and Pilar Zamora, M. and Fasching, Peter A. and Slager, Susan and Ashworth, Alan and Orr, Nick and Jones, Michael and Figueroa, Jonine D. and Lissowska, Jolanta and Müller, Heiko and Brinton, Louise A. and Group, stralian Ovarian Cancer Study and Sueta, Aiko and Goldberg, Mark S. and Labrèche, France and Dumont, Martine and Jukkola-Vuorinen, Arja and Grip, Mervi and Brauch, Hiltrud and Mk, Bolla and Hamann, Ute and Brüning, Thomas and Beckmann, M. W. and Peterlongo, Paolo and Muller, H. and Bonanni, Bernardo and Devilee, Peter and Stewart-Brown, Sarah L. and Manoukian, Siranoush and Jakubowska, Anna and Siriwanarangsan, Pornthep and Lubinski, Jan and Jaworska, Katarzyna and Durda, Katarzyna and Mannermaa, Arto and Kataja, Vesa and Sangrajrang, Suleeporn and Manouldan, S. and Marchand, Loic Le and Antonenkova, Natalia Nn and Kosma, Veli-Matti and Hartikainen, Jaana M. and Anton-Culver, Hoda and Bogdanova, Natalia Viktorovna and Zheng, Wei and Edge, Stephen and Dörk, Thilo and Kristensen, Vessela N. and Fostira, Florentia and Shrubsole, Martha and Kang, Daehee and Simard, Jacques and Network, GENICA (Gene Environment Interaction and Breast Cancer in Germany) and Matsuo, Keitaro and Noh, Dong-Young and Ito, Hidemi and Dork, T. and Iwata, Hiroji and Lu, Wei and Gao, Yu-Tang and Cai, Hui and Phuah, Sze Yee and Hartman, Mikael and Cornes, Belinda K. and Miao, Hui and Lim, Wei Yen and Muir, Kenneth R. and Lophatananon, Artitaya and Hsiung, Chia-Ni and Häberle, Lothar and Ding, Shian-Ling and Gaborieau, Valerie and Brennan, Paul and McKay, James and Blot, William J. and Beckmann, Lars and Cai, Qiuyin Y. and Arias Pérez, José Ignacio and Deming-Halverson, Sandra L. and Long, Jirong R. and Garcia-Closas, Montserrat and Pharoah, Paul D. Pd and Chenevix-Trench, Georgia and Dunning, Alison M. and Benitez, Javier and Genica Gene Environm Interaction, B. and Easton, Douglas F. and Others,  and Purrington, Kristen},
  doi = {10.1038/ng.2563},
  month = {mar},
  title = {Large-scale genotyping identifies 41 new loci associated with breast cancer risk},
  url = {http://www.nature.com/articles/ng.2563.pdf},
  year = {2013}
}

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Journal article published in 2013 by David van den Berg, Hereditary Breast Ovarian Canc Res, Breast Ovarian Canc Susceptibility, Marjanka K. Schmidt, Australian Ovarian Can Study Grp, Isabel Dos Santos Silva, R. B. Van Der Luijt, Qin Wang, Isabel dos Santos Silva, Clare Turnbull, Kyriaki Michailidou, Nazneen Rahman, Isabel dos Santos Silva, Per Hall, Anna Gonzalez-Neira and other authors. David van den Berg, Hereditary Breast Ovarian Canc Res, Breast Ovarian Canc Susceptibility, Marjanka K. Schmidt, Australian Ovarian Can Study Grp, Isabel Dos Santos Silva, R. B. Van Der Luijt, Qin Wang, Isabel dos Santos Silva, Clare Turnbull, Kyriaki Michailidou, Nazneen Rahman, Isabel dos Santos Silva, Per Hall, Anna Gonzalez-Neira, Maya Ghoussaini, Rob B. van der Luijt, Joe Dennis, Lj J. V. Veer, Milne Rl, Rita K. Schmutzler, Jenny Chang-Claude, C. Ellen Van Der Schoot, Quinten Waisfisz, Melissa C. Southey, Ed Dicks, Andrew Lee, Bojesen Se, Andre G. Uitterlinden, Daniel F. Schmidt, A. M. W. Van Den Ouweland, M. Rosario Alonso, Olivia Fletcher, Daniel C. Tessier, Lodewyk F. A. Wessels, Julian Peto, Heli Nevanlinna, Lorna Gibson, Kristiina Aittomäki, Daniel Vincent, Robert A. E. M. Tollenaar, Carl Blomqvist, Kamila Czene

, Roger L. Milne, C. J. Van Asperen, Astrid Irwanto, Xianshu S. Wang, Mitul Shah, Stig Egil Bojesen, Jianjun Jj Liu, Kristen N. Stevens, Manjeet K. Bolla, Hanne Meijers-Heijboer, Nils Schoof, Muriel Adank, Rebecca Hein, Norbert Dahmen, Taru A. Muranen

, Lars Beckman, Alfons Meindl, Celine M. Vachon, Peter Lichtner, Enes Makalic, Anja Rudolph

, Albert Hofman, Børge G. Nordestgaard, Malcolm W. R. Reed, Ce Ellen van der Schoot, Elinor J. Sawyer, François Bacot, Bertram Müller-Myhsok, Sander Canisius, Ans M. W. van den Ouweland, John L. Hopper, Robert Luben

, Judith Brown, Thérèse Truong, Craig Luccarini, David J. Hunter, Stephen J. Chanock, Keith Humphreys, Andreas Schneeweiss, Henrik L. Flyger, kConFab Investigators, Christof Sohn, M. Pilar Zamora, Christopher A. Haiman, B. Muller-Myhsok, Diether Lambrechts

, Matthieu Moisse

, Hereditary Breast and Ovarian Cancer Research Group Netherlands (Hebon), Robert Paridaens, Anthony Swerdlow, Ian P. Tomlinson, Jingmei M. Li, Stefan Nickels, Sune F. Nielsen, Dieter Flesch-Janys, Nichola Johnson, Fredrick Schumacher, Bg-Ø. G. Nordestgaard, Fergus J. Couch, Zoe Aitken, Christi J. van Asperen, Kirsimari Aaltonen, A. Swerdlown, Tuomas Heikkinen, Annegien Broeks, Marie-Rose Christiaens, Pascal Guénel, Pierre Laurent-Puig, Florence Menegaux, Jennifer Stone

, Frederik Marme, Helen Tsimiklis, Gianluca Severi, Guillermo Pita, Mr Rosario Alonso, Angela Cox

, Amanda E. Toland, Barbara Burwinkel, Simon Ss Cross, Keun-Young Yoo, Christa Stegmaier, Nicola Miller, Ian W. Brock, Anna H. Wu, Loic Le Marchand, Chiu-Chen Tseng, B. Burwinke, Gord Glendon, Daniel O. Stram, Michael J. Kerin, Robert Winqvist, Annika Lindblom, Sara Margolin, Xiao-Ou Shu, Brian E. Henderson, Katri Pylkäs, Cheng Har Yip, I. Dos Santos Silva, Antoinette Hollestelle

, Soo-Hwang Teo, Schmidt Mk, Irene L. Andrulis, D. Van den Berg, Julia A. Knight, Agnes Jager, Paolo Radice

, Matthias W. Beckmann, Anna Marie Mulligan, Ji I. A. Perez, Jen-Hwei Sng, Carmel Apicella, Pei-Ei Wu, Graham Gg Giles, Mw Beckmann, Caroline M. Seynaeve, Maartje J. Hooning, Chen-Yang Shen, Laura Baglietto, Breast and Ovarian Cancer Susceptibility Collaboration, Quang M. Bui, C. Ellen van der Schoot, Gillian S. Dite, Lothar Haeberle, Arif B. Ekici, Lisa B. Signorello, Hermann Brenner, Volker Arndt, M. Pilar Zamora, Peter A. Fasching, Susan Slager, Alan Ashworth, Nick Orr, Michael Jones, Jonine D. Figueroa, Jolanta Lissowska, Heiko Müller, Louise A. Brinton, stralian Ovarian Cancer Study Group, Aiko Sueta, Mark S. Goldberg, France Labrèche, Martine Dumont, Arja Jukkola-Vuorinen, Mervi Grip, Hiltrud Brauch, Bolla Mk, Ute Hamann, Thomas Brüning, M. W. Beckmann, Paolo Peterlongo, H. Muller, Bernardo Bonanni, Peter Devilee

, Sarah L. Stewart-Brown, Siranoush Manoukian

, Anna Jakubowska, Pornthep Siriwanarangsan, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Arto Mannermaa, Vesa Kataja, Suleeporn Sangrajrang, S. Manouldan, Loic Le Marchand, Natalia Nn Antonenkova, Veli-Matti Kosma, Jaana M. Hartikainen, Hoda Anton-Culver, Natalia Viktorovna Bogdanova, Wei Zheng, Stephen Edge, Thilo Dörk, Vessela N. Kristensen, Florentia Fostira, Martha Shrubsole, Daehee Kang, Jacques Simard, GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Keitaro Matsuo

, Dong-Young Noh, Hidemi Ito, T. Dork, Hiroji Iwata, Wei Lu, Yu-Tang Gao, Hui Cai, Sze Yee Phuah, Mikael Hartman

, Belinda K. Cornes, Hui Miao, Wei Yen Lim, Kenneth R. Muir, Artitaya Lophatananon, Chia-Ni Hsiung, Lothar Häberle, Shian-Ling Ding, Valerie Gaborieau, Paul Brennan, James McKay, William J. Blot, Lars Beckmann, Qiuyin Y. Cai, José Ignacio Arias Pérez, Sandra L. Deming-Halverson, Jirong R. Long, Montserrat Garcia-Closas, Paul D. Pd Pharoah, Georgia Chenevix-Trench, Alison M. Dunning

, Javier Benitez, B. Genica Gene Environm Interaction, Douglas F. Easton, Others, Kristen Purrington

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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 ∼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 × 10(-8)). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.

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Large-scale genotyping identifies 41 new loci associated with breast cancer risk

Abstract