Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry

作者: Wen WanQing Wen WanQing , Shu XiaoOu Shu XiaoOu , Guo XingYi Guo XingYi , Cai QiuYin Cai QiuYin , Long JiRong Long JiRong

DOI: 10.1186/S13058-016-0786-1

关键词:

摘要: Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants risk prediction models has not evaluated adequately women Asian ancestry. We 88 that were previously by GWAS 11,760 cases and 11,612 controls SNPs confirmed to be associated with used construct a polygenic score (PRS). relative absolute risks the PRS percentiles estimated based on distribution, stratify into different levels risk. significant associations for 44 78 reported loci at P < 0.05. Compared middle quintile PRS, top 1% group had 2.70-fold elevated (95% CI: 2.15–3.40). model an area under receiver operating characteristic curve 0.606. lifetime Shanghai Chinese lowest highest was 1.35% 10.06%, respectively. one-half GWAS-identified can directly replicated East women. Collectively, genetic are important predictors Using could help identify high cancer.

参考文章(25)
Maya Ghoussaini, Paul D.P. Pharoah, Douglas F. Easton, Inherited genetic susceptibility to breast cancer: the beginning of the end or the end of the beginning? American Journal of Pathology. ,vol. 183, pp. 1038- 1051 ,(2013) , 10.1016/J.AJPATH.2013.07.003
Wei Zheng, Jirong Long, Yu-Tang Gao, Chun Li, Ying Zheng, Yong-Bin Xiang, Wanqing Wen, Shawn Levy, Sandra L Deming, Jonathan L Haines, Kai Gu, Alecia Malin Fair, Qiuyin Cai, Wei Lu, Xiao-Ou Shu, Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1 Nature Genetics. ,vol. 41, pp. 324- 328 ,(2009) , 10.1038/NG.318
Kyriaki Michailidou, Jonathan Beesley, Sara Lindstrom, Sander Canisius, Joe Dennis, Michael J Lush, Mel J Maranian, Manjeet K Bolla, Qin Wang, Mitul Shah, Barbara J Perkins, Kamila Czene, Mikael Eriksson, Hatef Darabi, Judith S Brand, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Sune F Nielsen, Nazneen Rahman, Clare Turnbull, BOCS, Olivia Fletcher, Julian Peto, Lorna Gibson, Isabel dos-Santos-Silva, Jenny Chang-Claude, Dieter Flesch-Janys, Anja Rudolph, Ursula Eilber, Sabine Behrens, Heli Nevanlinna, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Sofia Khan, Kirsimari Aaltonen, Habibul Ahsan, Muhammad G Kibriya, Alice S Whittemore, Esther M John, Kathleen E Malone, Marilie D Gammon, Regina M Santella, Giske Ursin, Enes Makalic, Daniel F Schmidt, Graham Casey, David J Hunter, Susan M Gapstur, Mia M Gaudet, W Ryan Diver, Christopher A Haiman, Fredrick Schumacher, Brian E Henderson, Loic Le Marchand, Christine D Berg, Stephen J Chanock, Jonine Figueroa, Robert N Hoover, Diether Lambrechts, Patrick Neven, Hans Wildiers, Erik van Limbergen, Marjanka K Schmidt, Annegien Broeks, Senno Verhoef, Sten Cornelissen, Fergus J Couch, Janet E Olson, Emily Hallberg, Celine Vachon, Quinten Waisfisz, Hanne Meijers-Heijboer, Muriel A Adank, Rob B van der Luijt, Jingmei Li, Jianjun Liu, Keith Humphreys, Daehee Kang, Ji-Yeob Choi, Sue K Park, Keun-Young Yoo, Keitaro Matsuo, Hidemi Ito, Hiroji Iwata, Kazuo Tajima, Pascal Guénel, Thérèse Truong, Claire Mulot, Marie Sanchez, Barbara Burwinkel, Frederik Marme, Harald Surowy, Christof Sohn, Anna H Wu, Chiu-chen Tseng, David Van Den Berg, Daniel O Stram, Anna González-Neira, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Xiao-Ou Shu, Wei Lu, Yu-Tang Gao, Hui Cai, Angela Cox, Simon S Cross, Malcolm WR Reed, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, kConFab Investigators, AOCS Group, Annika Lindblom, Sara Margolin, Soo Hwang Teo, Cheng Har Yip, Nur Aishah Mohd Taib, Gie-Hooi Tan, Maartje J Hooning, Antoinette Hollestelle, John WM Martens, J Margriet Collée, William Blot, Lisa B Signorello, Qiuyin Cai, John L Hopper, Melissa C Southey, Helen Tsimiklis, Carmel Apicella, Chen-Yang Shen, Chia-Ni Hsiung, Pei-Ei Wu, Ming-Feng Hou, Vessela N Kristensen, Silje Nord, Grethe I Grenaker Alnaes, NBCS, Graham G Giles, Roger L Milne, Catriona McLean, Federico Canzian, Dimitrios Trichopoulos, None, Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer Nature Genetics. ,vol. 47, pp. 373- 380 ,(2015) , 10.1038/NG.3242
Jirong Long, Qiuyin Cai, Xiao-Ou Shu, Shimian Qu, Chun Li, Ying Zheng, Kai Gu, Wenjing Wang, Yong-Bing Xiang, Jiarong Cheng, Kexin Chen, Lina Zhang, Hong Zheng, Chen-Yang Shen, Chiun-Sheng Huang, Ming-Feng Hou, Hongbing Shen, Zhibin Hu, Furu Wang, Sandra L Deming, Mark C Kelley, Martha J Shrubsole, Ui Soon Khoo, Kelvin YK Chan, Sum Yin Chan, Christopher A Haiman, Brian E Henderson, Loic Le Marchand, Motoki Iwasaki, Yoshio Kasuga, Shoichiro Tsugane, Keitaro Matsuo, Kazuo Tajima, Hiroji Iwata, Bo Huang, Jiajun Shi, Guoliang Li, Wanqing Wen, Yu-Tang Gao, Wei Lu, Wei Zheng, None, Identification of a Functional Genetic Variant at 16q12.1 for Breast Cancer Risk: Results from the Asia Breast Cancer Consortium PLoS Genetics. ,vol. 6, pp. e1001002- 9 ,(2010) , 10.1371/JOURNAL.PGEN.1001002
Boyoung Park, Seung Hyun Ma, Aesun Shin, Myung-Chul Chang, Ji-Yeob Choi, Sungwan Kim, Wonshik Han, Dong-Young Noh, Sei-Hyun Ahn, Daehee Kang, Keun-Young Yoo, Sue K. Park, Korean Risk Assessment Model for Breast Cancer Risk Prediction PLoS ONE. ,vol. 8, pp. e76736- ,(2013) , 10.1371/JOURNAL.PONE.0076736
Andrew Collins, Ioannis Politopoulos, The genetics of breast cancer: risk factors for disease The application of clinical genetics. ,vol. 4, pp. 11- 19 ,(2011) , 10.2147/TACG.S13139
Simon N Stacey, Andrei Manolescu, Patrick Sulem, Thorunn Rafnar, Julius Gudmundsson, Sigurjon A Gudjonsson, Gisli Masson, Margret Jakobsdottir, Steinunn Thorlacius, Agnar Helgason, Katja K Aben, Luc J Strobbe, Marjo T Albers-Akkers, Dorine W Swinkels, Brian E Henderson, Laurence N Kolonel, Loic Le Marchand, Esther Millastre, Raquel Andres, Javier Godino, Maria Dolores Garcia-Prats, Eduardo Polo, Alejandro Tres, Magali Mouy, Jona Saemundsdottir, Valgerdur M Backman, Larus Gudmundsson, Kristleifur Kristjansson, Jon T Bergthorsson, Jelena Kostic, Michael L Frigge, Frank Geller, Daniel Gudbjartsson, Helgi Sigurdsson, Thora Jonsdottir, Jon Hrafnkelsson, Jakob Johannsson, Thorarinn Sveinsson, Gardar Myrdal, Hlynur Niels Grimsson, Thorvaldur Jonsson, Susanna von Holst, Barbro Werelius, Sara Margolin, Annika Lindblom, Jose I Mayordomo, Christopher A Haiman, Lambertus A Kiemeney, Oskar Th Johannsson, Jeffrey R Gulcher, Unnur Thorsteinsdottir, Augustine Kong, Kari Stefansson, None, Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nature Genetics. ,vol. 39, pp. 865- 869 ,(2007) , 10.1038/NG2064
Nasim Mavaddat, Paul DP Pharoah, Kyriaki Michailidou, Jonathan Tyrer, Mark N Brook, Manjeet K Bolla, Qin Wang, Joe Dennis, Alison M Dunning, Mitul Shah, Robert Luben, Judith Brown, Stig E Bojesen, Børge G Nordestgaard, Sune F Nielsen, Henrik Flyger, Kamila Czene, Hatef Darabi, Mikael Eriksson, Julian Peto, Isabel dos-Santos-Silva, Frank Dudbridge, Nichola Johnson, Marjanka K Schmidt, Annegien Broeks, Senno Verhoef, Emiel J Rutgers, Anthony Swerdlow, Alan Ashworth, Nick Orr, Minouk J Schoemaker, Jonine Figueroa, Stephen J Chanock, Louise Brinton, Jolanta Lissowska, Fergus J Couch, Janet E Olson, Celine Vachon, Vernon S Pankratz, Diether Lambrechts, Hans Wildiers, Chantal Van Ongeval, Erik Van Limbergen, Vessela Kristensen, Grethe Grenaker Alnæs, Silje Nord, Anne-Lise Borresen-Dale, Heli Nevanlinna, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Barbara Burwinkel, Frederik Marme, Andreas Schneeweiss, Christof Sohn, Amy Trentham-Dietz, Polly Newcomb, Linda Titus, Kathleen M Egan, David J Hunter, Sara Lindstrom, Rulla M Tamimi, Peter Kraft, Nazneen Rahman, Clare Turnbull, Anthony Renwick, Sheila Seal, Jingmei Li, Jianjun Liu, Keith Humphreys, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menendez, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Natalia V Bogdanova, Natalia N Antonenkova, Thilo Dörk, Hoda Anton-Culver, Susan L Neuhausen, Argyrios Ziogas, Leslie Bernstein, Peter Devilee, Robert AEM Tollenaar, Caroline Seynaeve, Christi J Van Asperen, Angela Cox, Simon S Cross, Malcolm WR Reed, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofyeva, Zalina Takhirova, Alfons Meindl, Rita K Schmutzler, Christian Sutter, Rongxi Yang, Peter Schürmann, Michael Bremer, Hans Christiansen, Tjoung-Won Park-Simon, Peter Hillemanns, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Valeria Pensotti, John L Hopper, Helen Tsimiklis, Carmel Apicella, Melissa C Southey, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Alice J Sigurdson, Michele M Doody, Ute Hamann, Diana Torres, Hans-Ulrich Ulmer, Asta Försti, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Georgia Chenevix-Trench, Rosemary Balleine, Graham G Giles, Roger L Milne, Catriona McLean, Annika Lindblom, Sara Margolin, Christopher A Haiman, None, Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants Journal of the National Cancer Institute. ,vol. 107, pp. 036- 036 ,(2015) , 10.1093/JNCI/DJV036
Clare Turnbull, Shahana Ahmed, Jonathan Morrison, David Pernet, Anthony Renwick, Mel Maranian, Sheila Seal, Maya Ghoussaini, Sarah Hines, Catherine S Healey, Deborah Hughes, Margaret Warren-Perry, William Tapper, Diana Eccles, D Gareth Evans, Breast Cancer Susceptibility Collaboration (UK), Maartje Hooning, Mieke Schutte, Ans van den Ouweland, Richard Houlston, Gillian Ross, Cordelia Langford, Paul DP Pharoah, Michael R Stratton, Alison M Dunning, Nazneen Rahman, Douglas F Easton, None, Genome-wide association study identifies five new breast cancer susceptibility loci Nature Genetics. ,vol. 42, pp. 504- 507 ,(2010) , 10.1038/NG.586
Qiuyin Cai, Ben Zhang, Hyuna Sung, Siew-Kee Low, Sun-Seog Kweon, Wei Lu, Jiajun Shi, Jirong Long, Wanqing Wen, Ji-Yeob Choi, Dong-Young Noh, Chen-Yang Shen, Keitaro Matsuo, Soo-Hwang Teo, Mi Kyung Kim, Ui Soon Khoo, Motoki Iwasaki, Mikael Hartman, Atsushi Takahashi, Kyota Ashikawa, Koichi Matsuda, Min-Ho Shin, Min Ho Park, Ying Zheng, Yong-Bing Xiang, Bu-Tian Ji, Sue K Park, Pei-Ei Wu, Chia-Ni Hsiung, Hidemi Ito, Yoshio Kasuga, Peter Kang, Shivaani Mariapun, Sei Hyun Ahn, Han Sung Kang, Kelvin YK Chan, Ellen PS Man, Hiroji Iwata, Shoichiro Tsugane, Hui Miao, Jiemin Liao, Yusuke Nakamura, Michiaki Kubo, DRIVE GAME-ON Consortium, Ryan J Delahanty, Yanfeng Zhang, Bingshan Li, Chun Li, Yu-Tang Gao, Xiao-Ou Shu, Daehee Kang, Wei Zheng, None, Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1 Nature Genetics. ,vol. 46, pp. 886- 890 ,(2014) , 10.1038/NG.3041