Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Michailidou, Kyriaki; dos-Santos-Silva, Isabel; Lindstrom, Sara; van Limbergen, Erik; Lush, Michael J.; Perkins, Barbara J.; Maranian, Mel J.; Nordestgaard, Børge G.; van der Luijt, Rob B.; Nielsen, Sune F.; Turnbull, Clare; Wang, Qin; Peto, Julian; Shah, Mitul; Rahman, Nazneen; Ryan Diver, W.; Rudolph, Anja; Dos-Santos-Silva, I.; Nevanlinna, Heli; Muranen, Taru A.; Zamora, M. Pilar; Khan, Sofia; Marchand, Loic Le; Whittemore, Alice S.; Kibriya, Muhammad G.; John, Esther M.; Malone, Kathleen E.; Santella, Regina M.; Beesley, Jonathan; Ursin, Giske; Makalic, Enes; Canisius, Sander; Schmidt, Daniel F.; Hunter, David J.; Dennis, Joe; Haiman, Christopher A.; Schumacher, Fredrick; Mj, Lush; Henderson, Brian E.; Le Marchand, Loic; Brand, Judith S.; Darabi, Hatef; Bojesen, Stig E.; Czene, Kamila; Wildiers, Hans; Hoover, Robert N.; Bolla, Manjeet K.; Lambrechts, Diether; Neven, Patrick; Eriksson, Mikael; Fletcher, Olivia; Schmidt, Marjanka K.; Flyger, Henrik; Verhoef, Senno; Gibson, Lorna; Olson, Janet E.; Chang-Claude, Jenny; Mj, Maranian; Hallberg, Emily; Van Limbergen, E.; Vachon, Celine; Waisfisz, Quinten; Flesch-Janys, Dieter; Meijers-Heijboer, Hanne; Eilber, Ursula; Van Der Luijt, R. B.; Yoo, Keun-Young; Li, Jingmei M.; Behrens, Sabine; Investigators, kConFab; Liu, Jianjun J.; Humphreys, Keith; Aittomäki, Kristiina; Kang, Daehee; Blomqvist, Carl; Park, Sue K.; Mk, Bolla; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Aaltonen, Kirsimari; Tajima, Kazuo; Gammon, Marilie D.; Ahsan, Habibul; Wu, Anna H.; Guénel, Pascal; Truong, Thérèse; Mulot, Claire; Sanchez, Marie; Marme, Frederik; Casey, Graham; Surowy, Harald; Sohn, Christof; Gapstur, Susan M.; Tseng, Chiu-Chen; Gaudet, Mia M.; Diver, W. Ryan; Van Den Berg, David; Stram, Daniel O.; Pilar Zamora, M.; Perez, Jose Ignacio Arias; Shu, Xiao-Ou; Chanock, Stephen J.; Lu, Wei; Berg, Christine D.; Figueroa, Jonine; Yip, Cheng Har; Reed, Malcolm Wr R.; Broeks, Annegien; Knight, Julia A.; Cornelissen, Sten; Mulligan, Anna Marie; Couch, Fergus J.; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Lindblom, Annika; Adank, Muriel A.; Margolin, Sara; Wu, Pei-Ei; Teo, Soo Hwang; Taib, Nur Aishah Mohd; Tan, Gie-Hooi; Choi, Ji-Yeob; Hooning, Maartje J.; Hollestelle, Antoinette; Martens, John Wm M.; Margriet Collée, J.; Signorello, Lisa B.; Burwinkel, Barbara; Js, Brand; Hopper, John L.; Southey, Melissa C.; Tsimiklis, Helen; Shen, Chen-Yang; González-Neira, Anna; Hsiung, Chia-Ni; Benitez, Javier; Hou, Ming-Feng; Kristensen, Vessela N.; Nord, Silje; Gao, Yu-Tang; Yang, Rongxi; Cai, Hui; Nbcs,; Milne, Roger L.; Se, Bojesen; Cox, Angela; McLean, Catriona; Cross, Simon S.; Trichopoulos, Dmitrios; Peeters, Petra; Andrulis, Irene L.; Lund, Eiliv; Glendon, Gord; Sund, Malin; Khaw, Kay-Tee; Palli, Domenico; Mortensen, Lotte Maxild; Huerta, Jose-Maria; Meindl, Alfons; Schmutzler, Rita K.; Sutter, Christian; Blot, William; Others,; Muir, Kenneth; Cai, Qiuyin Y.; Lophatananon, Artitaya; Stewart-Brown, Sarah; Zheng, Wei; Siriwanarangsan, Pornthep; Hartman, Mikael; Apicella, Carmel; Rosario Alonso, M.; Miao, Hui; Hein, Alexander; Haeberle, Lothar; Giles, Graham G.; Alnaes, Grethe I. Grenaker; Winqvist, Robert; Stegmaier, Christa; Sf, Nielsen; Canzian, Federico; Orr, Nick; Schoemaker, Minouk J.; Swerdlow, Anthony J.; Dossus, Laure; Halverson, Sandra L.; Shrubsole, Martha; Gunter, Marc J.; Long, Jirong; Álvarez, Nuria; Labrèche, France; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Chia, Kee Seng; Hamann, Ute; Chan, Ching Wan; Radice, Paolo; Fasching, Peter A.; Peterlongo, Paolo; Manoukian, Siranoush; Beckmann, Matthias W.; Brenner, Hermann; Mannermaa, Arto; Dieffenbach, Aida Karina; Kataja, Vesa; Yannoukakos, Drakoulis; Arndt, Volker; Kosma, Veli-Matti; Hartikainen, Jaana M.; Ashworth, Alan; Tollenaar, Robert Aem E. M.; Seynaeve, Caroline; Guenel, Pascal; Van Asperen, Christi J.; Brinton, Louise; Jakubowska, Anna; Garcia-Closas, Montserrat; Lubinski, Jan; Jaworska, Katarzyna; Huzarski, Tomasz; Sangrajrang, Suleeporn; Goldberg, Mark S.; McKay, James; Dumont, Martine; Slager, Susan; Toland, Amanda E.; Grip, Mervi; Kabisch, Maria; Brauch, Hiltrud; Torres, Diana; Brüning, Thomas; Neuhausen, Susan L.; Aocs, Group; Bernard, Loris; Luccarini, Craig; Collée, J. Margriet; Bogdanova, Natalia V.; Dörk, Thilo; Bocs,; Healey, Catherine S.; Tessier, Daniel C.; Devilee, Peter; Grenaker Alnaes, Grethe I.; Vincent, Daniel; Pita, Guillermo; Bj, Perkins; Herrero, Daniel; Gaborieau, Valerie; Simard, Jacques; Brennan, Paul; Bruening, Thomas; Pharoah, Paul Pdp D. Ppdp; Ambrosone, Christine B.; Kraft, Peter; Doerk, Thilo; Genica, Network; Anton-Culver, Hoda; Hall, Per; Dork, T.; Baynes, Caroline; Ahmed, Shahana; Bg, Nordestgaard; Bacot, Francois; Alonso, M. Rosario; Arias Perez, Jose Ignacio; Alvarez, Nuria; Dunning, Alison M.; Chenevix-Trench, Georgia; ConFab Investigators, K.; Easton, Douglas F.; Grp, Aocs; Df, Easton

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Taru Annika Muranen
Michailidou et al., 2015

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Nature Research, Nature Genetics, 4(47), p. 373-380, 2015

DOI: 10.1038/ng.3242

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@article{Michailidou2015,
  abstract = {Genome wide association studies (GWAS) and large scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS comprising of 15,748 breast cancer cases and 18,084 controls, and 46,785 cases and 42,892 controls from 41 studies genotyped on a 200K custom array (iCOGS). Analyses were restricted to women of European ancestry. Genotypes for more than 11M SNPs were generated by imputation using the 1000 Genomes Project reference panel. We identified 15 novel loci associated with breast cancer at P},
  author = {Michailidou, Kyriaki and dos-Santos-Silva, Isabel and Lindstrom, Sara and van Limbergen, Erik and Lush, Michael J. and Perkins, Barbara J. and Maranian, Mel J. and Nordestgaard, Børge G. and van der Luijt, Rob B. and Nielsen, Sune F. and Turnbull, Clare and Wang, Qin and Peto, Julian and Shah, Mitul and Rahman, Nazneen and Ryan Diver, W. and Rudolph, Anja and Dos-Santos-Silva, I. and Nevanlinna, Heli and Muranen, Taru A. and Zamora, M. Pilar and Khan, Sofia and Marchand, Loic Le and Whittemore, Alice S. and Kibriya, Muhammad G. and John, Esther M. and Malone, Kathleen E. and Santella, Regina M. and Beesley, Jonathan and Ursin, Giske and Makalic, Enes and Canisius, Sander and Schmidt, Daniel F. and Hunter, David J. and Dennis, Joe and Haiman, Christopher A. and Schumacher, Fredrick and Mj, Lush and Henderson, Brian E. and Le Marchand, Loic and Brand, Judith S. and Darabi, Hatef and Bojesen, Stig E. and Czene, Kamila and Wildiers, Hans and Hoover, Robert N. and Bolla, Manjeet K. and Lambrechts, Diether and Neven, Patrick and Eriksson, Mikael and Fletcher, Olivia and Schmidt, Marjanka K. and Flyger, Henrik and Verhoef, Senno and Gibson, Lorna and Olson, Janet E. and Chang-Claude, Jenny and Mj, Maranian and Hallberg, Emily and Van Limbergen, E. and Vachon, Celine and Waisfisz, Quinten and Flesch-Janys, Dieter and Meijers-Heijboer, Hanne and Eilber, Ursula and Van Der Luijt, R. B. and Yoo, Keun-Young and Li, Jingmei M. and Behrens, Sabine and Investigators, kConFab and Liu, Jianjun J. and Humphreys, Keith and Aittomäki, Kristiina and Kang, Daehee and Blomqvist, Carl and Park, Sue K. and Mk, Bolla and Matsuo, Keitaro and Ito, Hidemi and Iwata, Hiroji and Aaltonen, Kirsimari and Tajima, Kazuo and Gammon, Marilie D. and Ahsan, Habibul and Wu, Anna H. and Guénel, Pascal and Truong, Thérèse and Mulot, Claire and Sanchez, Marie and Marme, Frederik and Casey, Graham and Surowy, Harald and Sohn, Christof and Gapstur, Susan M. and Tseng, Chiu-Chen and Gaudet, Mia M. and Diver, W. Ryan and Van Den Berg, David and Stram, Daniel O. and Pilar Zamora, M. and Perez, Jose Ignacio Arias and Shu, Xiao-Ou and Chanock, Stephen J. and Lu, Wei and Berg, Christine D. and Figueroa, Jonine and Yip, Cheng Har and Reed, Malcolm Wr R. and Broeks, Annegien and Knight, Julia A. and Cornelissen, Sten and Mulligan, Anna Marie and Couch, Fergus J. and Sawyer, Elinor J. and Tomlinson, Ian and Kerin, Michael J. and Miller, Nicola and Lindblom, Annika and Adank, Muriel A. and Margolin, Sara and Wu, Pei-Ei and Teo, Soo Hwang and Taib, Nur Aishah Mohd and Tan, Gie-Hooi and Choi, Ji-Yeob and Hooning, Maartje J. and Hollestelle, Antoinette and Martens, John Wm M. and Margriet Collée, J. and Signorello, Lisa B. and Burwinkel, Barbara and Js, Brand and Hopper, John L. and Southey, Melissa C. and Tsimiklis, Helen and Shen, Chen-Yang and González-Neira, Anna and Hsiung, Chia-Ni and Benitez, Javier and Hou, Ming-Feng and Kristensen, Vessela N. and Nord, Silje and Gao, Yu-Tang and Yang, Rongxi and Cai, Hui and Nbcs,  and Milne, Roger L. and Se, Bojesen and Cox, Angela and McLean, Catriona and Cross, Simon S. and Trichopoulos, Dmitrios and Peeters, Petra and Andrulis, Irene L. and Lund, Eiliv and Glendon, Gord and Sund, Malin and Khaw, Kay-Tee and Palli, Domenico and Mortensen, Lotte Maxild and Huerta, Jose-Maria and Meindl, Alfons and Schmutzler, Rita K. and Sutter, Christian and Blot, William and Others,  and Muir, Kenneth and Cai, Qiuyin Y. and Lophatananon, Artitaya and Stewart-Brown, Sarah and Zheng, Wei and Siriwanarangsan, Pornthep and Hartman, Mikael and Apicella, Carmel and Rosario Alonso, M. and Miao, Hui and Hein, Alexander and Haeberle, Lothar and Giles, Graham G. and Alnaes, Grethe I. Grenaker and Winqvist, Robert and Stegmaier, Christa and Sf, Nielsen and Canzian, Federico and Orr, Nick and Schoemaker, Minouk J. and Swerdlow, Anthony J. and Dossus, Laure and Halverson, Sandra L. and Shrubsole, Martha and Gunter, Marc J. and Long, Jirong and Álvarez, Nuria and Labrèche, France and Pylkäs, Katri and Jukkola-Vuorinen, Arja and Chia, Kee Seng and Hamann, Ute and Chan, Ching Wan and Radice, Paolo and Fasching, Peter A. and Peterlongo, Paolo and Manoukian, Siranoush and Beckmann, Matthias W. and Brenner, Hermann and Mannermaa, Arto and Dieffenbach, Aida Karina and Kataja, Vesa and Yannoukakos, Drakoulis and Arndt, Volker and Kosma, Veli-Matti and Hartikainen, Jaana M. and Ashworth, Alan and Tollenaar, Robert Aem E. M. and Seynaeve, Caroline and Guenel, Pascal and Van Asperen, Christi J. and Brinton, Louise and Jakubowska, Anna and Garcia-Closas, Montserrat and Lubinski, Jan and Jaworska, Katarzyna and Huzarski, Tomasz and Sangrajrang, Suleeporn and Goldberg, Mark S. and McKay, James and Dumont, Martine and Slager, Susan and Toland, Amanda E. and Grip, Mervi and Kabisch, Maria and Brauch, Hiltrud and Torres, Diana and Brüning, Thomas and Neuhausen, Susan L. and Aocs, Group and Bernard, Loris and Luccarini, Craig and Collée, J. Margriet and Bogdanova, Natalia V. and Dörk, Thilo and Bocs,  and Healey, Catherine S. and Tessier, Daniel C. and Devilee, Peter and Grenaker Alnaes, Grethe I. and Vincent, Daniel and Pita, Guillermo and Bj, Perkins and Herrero, Daniel and Gaborieau, Valerie and Simard, Jacques and Brennan, Paul and Bruening, Thomas and Pharoah, Paul Pdp D. Ppdp and Ambrosone, Christine B. and Kraft, Peter and Doerk, Thilo and Genica, Network and Anton-Culver, Hoda and Hall, Per and Dork, T. and Baynes, Caroline and Ahmed, Shahana and Bg, Nordestgaard and Bacot, Francois and Alonso, M. Rosario and Arias Perez, Jose Ignacio and Alvarez, Nuria and Dunning, Alison M. and Chenevix-Trench, Georgia and ConFab Investigators, K. and Easton, Douglas F. and Grp, Aocs and Df, Easton},
  doi = {10.1038/ng.3242},
  journal = {Nature Genetics},
  month = {mar},
  pages = {373-380},
  title = {Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer},
  url = {http://www.nature.com/articles/ng.3242.pdf},
  volume = {47},
  year = {2015}
}

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Journal article published in 2015 by Kyriaki Michailidou, Isabel dos-Santos-Silva, Sara Lindstrom, Erik van Limbergen, Michael J. Lush, Barbara J. Perkins, Mel J. Maranian, Børge G. Nordestgaard, Rob B. van der Luijt, Sune F. Nielsen, Clare Turnbull, Qin Wang, Julian Peto, Mitul Shah, Nazneen Rahman and other authors. Kyriaki Michailidou, Isabel dos-Santos-Silva, Sara Lindstrom, Erik van Limbergen, Michael J. Lush, Barbara J. Perkins, Mel J. Maranian, Børge G. Nordestgaard, Rob B. van der Luijt, Sune F. Nielsen, Clare Turnbull, Qin Wang, Julian Peto, Mitul Shah, Nazneen Rahman, W. Ryan Diver, Anja Rudolph, I. Dos-Santos-Silva, Heli Nevanlinna, Taru A. Muranen

, M. Pilar Zamora, Sofia Khan

, Loic Le Marchand, Alice S. Whittemore, Muhammad G. Kibriya, Esther M. John, Kathleen E. Malone, Regina M. Santella, Jonathan Beesley

, Giske Ursin, Enes Makalic, Sander Canisius, Daniel F. Schmidt, David J. Hunter, Joe Dennis, Christopher A. Haiman, Fredrick Schumacher, Lush Mj, Brian E. Henderson, Loic Le Marchand, Judith S. Brand

, Hatef Darabi, Stig E. Bojesen, Kamila Czene, Hans Wildiers, Robert N. Hoover, Manjeet K. Bolla, Diether Lambrechts

, Patrick Neven, Mikael Eriksson, Olivia Fletcher, Marjanka K. Schmidt, Henrik Flyger, Senno Verhoef, Lorna Gibson, Janet E. Olson, Jenny Chang-Claude, Maranian Mj, Emily Hallberg, E. Van Limbergen, Celine Vachon, Quinten Waisfisz, Dieter Flesch-Janys, Hanne Meijers-Heijboer, Ursula Eilber, R. B. Van Der Luijt, Keun-Young Yoo, Jingmei M. Li, Sabine Behrens, kConFab Investigators, Jianjun J. Liu, Keith Humphreys, Kristiina Aittomäki, Daehee Kang, Carl Blomqvist, Sue K. Park, Bolla Mk, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Kirsimari Aaltonen, Kazuo Tajima, Marilie D. Gammon, Habibul Ahsan, Anna H. Wu, Pascal Guénel, Thérèse Truong, Claire Mulot, Marie Sanchez, Frederik Marme, Graham Casey, Harald Surowy, Christof Sohn, Susan M. Gapstur, Chiu-Chen Tseng, Mia M. Gaudet, W. Ryan Diver, David Van Den Berg, Daniel O. Stram, M. Pilar Zamora, Jose Ignacio Arias Perez, Xiao-Ou Shu, Stephen J. Chanock, Wei Lu, Christine D. Berg, Jonine Figueroa, Cheng Har Yip, Malcolm Wr R. Reed, Annegien Broeks, Julia A. Knight, Sten Cornelissen, Anna Marie Mulligan, Fergus J. Couch, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Annika Lindblom, Muriel A. Adank, Sara Margolin, Pei-Ei Wu, Soo Hwang Teo, Nur Aishah Mohd Taib, Gie-Hooi Tan, Ji-Yeob Choi, Maartje J. Hooning, Antoinette Hollestelle

, John Wm M. Martens, J. Margriet Collée, Lisa B. Signorello, Barbara Burwinkel, Brand Js, John L. Hopper, Melissa C. Southey, Helen Tsimiklis, Chen-Yang Shen, Anna González-Neira, Chia-Ni Hsiung, Javier Benitez, Ming-Feng Hou, Vessela N. Kristensen, Silje Nord, Yu-Tang Gao, Rongxi Yang, Hui Cai, Nbcs, Roger L. Milne, Bojesen Se, Angela Cox

, Catriona McLean, Simon S. Cross, Dmitrios Trichopoulos, Petra Peeters, Irene L. Andrulis, Eiliv Lund, Gord Glendon, Malin Sund, Kay-Tee Khaw, Domenico Palli

, Lotte Maxild Mortensen, Jose-Maria Huerta, Alfons Meindl, Rita K. Schmutzler, Christian Sutter, William Blot, Others, Kenneth Muir, Qiuyin Y. Cai, Artitaya Lophatananon, Sarah Stewart-Brown, Wei Zheng, Pornthep Siriwanarangsan, Mikael Hartman

, Carmel Apicella, M. Rosario Alonso, Hui Miao, Alexander Hein, Lothar Haeberle, Graham G. Giles, Grethe I. Grenaker Alnaes, Robert Winqvist, Christa Stegmaier, Nielsen Sf, Federico Canzian, Nick Orr, Minouk J. Schoemaker, Anthony J. Swerdlow, Laure Dossus, Sandra L. Halverson, Martha Shrubsole, Marc J. Gunter

, Jirong Long, Nuria Álvarez, France Labrèche, Katri Pylkäs, Arja Jukkola-Vuorinen, Kee Seng Chia, Ute Hamann, Ching Wan Chan, Paolo Radice

, Peter A. Fasching, Paolo Peterlongo, Siranoush Manoukian

, Matthias W. Beckmann, Hermann Brenner, Arto Mannermaa, Aida Karina Dieffenbach, Vesa Kataja, Drakoulis Yannoukakos, Volker Arndt, Veli-Matti Kosma, Jaana M. Hartikainen, Alan Ashworth, Robert Aem E. M. Tollenaar, Caroline Seynaeve, Pascal Guenel, Christi J. Van Asperen, Louise Brinton, Anna Jakubowska, Montserrat Garcia-Closas, Jan Lubinski, Katarzyna Jaworska, Tomasz Huzarski, Suleeporn Sangrajrang, Mark S. Goldberg, James McKay, Martine Dumont, Susan Slager, Amanda E. Toland, Mervi Grip, Maria Kabisch, Hiltrud Brauch, Diana Torres

, Thomas Brüning, Susan L. Neuhausen, Group Aocs, Loris Bernard, Craig Luccarini, J. Margriet Collée, Natalia V. Bogdanova, Thilo Dörk, Bocs, Catherine S. Healey, Daniel C. Tessier, Peter Devilee, Grethe I. Grenaker Alnaes, Daniel Vincent, Guillermo Pita, Perkins Bj, Daniel Herrero, Valerie Gaborieau, Jacques Simard, Paul Brennan, Thomas Bruening, Paul Pdp D. Ppdp Pharoah, Christine B. Ambrosone, Peter Kraft, Thilo Doerk, Network Genica, Hoda Anton-Culver, Per Hall, T. Dork, Caroline Baynes, Shahana Ahmed, Nordestgaard Bg, Francois Bacot, M. Rosario Alonso, Jose Ignacio Arias Perez, Nuria Alvarez, Alison M. Dunning

, Georgia Chenevix-Trench, K. ConFab Investigators, Douglas F. Easton, Aocs Grp, Easton Df

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Abstract

Genome wide association studies (GWAS) and large scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS comprising of 15,748 breast cancer cases and 18,084 controls, and 46,785 cases and 42,892 controls from 41 studies genotyped on a 200K custom array (iCOGS). Analyses were restricted to women of European ancestry. Genotypes for more than 11M SNPs were generated by imputation using the 1000 Genomes Project reference panel. We identified 15 novel loci associated with breast cancer at P

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Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Abstract