Genome-wide association analysis identifies three new breast cancer susceptibility loci

Autor:	William J. Tapper, Frederik Marmé, Natalia Bogdanova, Joe Dennis, Pei-Ei Wu, Vesa Kataja, Michael Jones, Dong-Young Noh, Xiaoqing Chen, Thilo Dörk, Javier Benitez, Arif B. Ekici, André G. Uitterlinden, Karin Leunen, Chen-Yang Shen, Esther M. John, Sune F. Nielsen, Adam M. Lee, Arto Mannermaa, Dieter Flesch-Janys, Diana Eccles, Don M. Conroy, Quinten Waisfisz, Sara Margolin, Hoda Anton-Culver, Peter Devilee, Ans M.W. van den Ouweland, Ruth Swann, Chia-Ni Hsiung, Peter Schürmann, Per Hall, Bertram Müller-Myhsok, Jonathan Beesley, Graham G. Giles, Qin Wang, Mitul Shah, Matthias W. Beckmann, Veli-Matti Kosma, Carmel Apicella, Henrik Flyger, Daniel F. Schmidt, Gianluca Severi, Kristen N. Stevens, Paolo Peterlongo, Helen Tsimiklis, Betül T. Yesilyurt, Irene L. Andrulis, Louiza S. Velentzis, Peter A. Fasching, Jyh-Cherng Yu, Caroline Baynes, Jenny Chang-Claude, Craig Luccarini, Leslie Bernstein, Katarzyna Durda, Antoinette Hollestelle, Catriona McLean, Georgia Chenevix-Trench, Rebecca Hein, Heli Nevanlinna, Arja Jukkola-Vuorinen, Jolanta Lissowska, Rita K. Schmutzler, Giuseppe Floris, Christa Stegmaier, David J. Hunter, Kristiina Aittomäki, Johann H. Karstens, Alan Ashworth, Alfons Meindl, Emilie Cordina-Duverger, Stefan Nickels, Julian Peto, Jan Lubinski, Børge G. Nordestgaard, Ed Dicks, Stig E. Bojesen, Christie J. van Asperen, Malcolm W.R. Reed, Michael J. Kerin, Annika Lindblom, Barbara Burwinkel, Kristy Driver, Darya Prokofieva, Montserrat Garcia-Closas, Thomas Brüning, Christina Justenhoven, Nazneen Rahman, Annegien Broeks, Hermann Brenner, Hiltrud Brauch, Laura Baglietto, Yuri I. Rogov, Clare Turnbull, A Jakubowska, Marina Bermisheva, Heiko Müller, Hanne Meijers-Heijboer, Anne-Lise Børrensen-Dale, Pascal Guénel, Stephen J. Chanock, Siranoush Manoukian, Melissa C. Southey, Daniel J. Park, M. Rosario Alonso, Christof Sohn, Shan Wang-Gohrke, Melanie Maranian, Shahana Ahmed, Jonine D. Figueroa, Robert Winqvist, Jianjun Liu, Suthee Rattanamongkongul, Diether Lambrechts, Andreas Schneeweiss, Paul D.P. Pharoah, Alexander Miron, Ursula Eilber, Angela Cox, Anna González-Neira, Minh Bui, Frans B. L. Hogervorst, Peter Hillemanns, Peter Lichtner, Maartje J. Hooning, Roger L. Milne, Alison M. Dunning, Fernando Rivadeneira, Ian Tomlinson, Thérèse Truong, Volker Arndt, Rogier A. Oldenburg, Grethe I. Grenaker Alnæs, Senno Verhoef, Rob A. E. M. Tollenaar, Anna Marie Mulligan, Kenneth Muir, Christina Clarke Dur, Katarzyna Jaworska, Saila Kauppila, Olivia Fletcher, Jaana M. Hartikainen, Michael P. Lux, Kyriaki Michailidou, Stefano Fortuzzi, Douglas F. Easton, Anthony J. Swerdlow, Elza Khusnutdinova, Annie Perkins, Carl Blomqvist, Argyrios Ziogas, Keun-Young Yoo, Caroline Seynaeve, Natalia Antonenkova, Bruce A.J. Ponder, Vessela N. Kristensen, Gord Glendon, Daehee Kang, Elinor J. Sawyer, Michael Bremer, Louise A. Brinton, Minouk J. Schoemaker, Kamila Czene, Isabel dos Santos Silva, John L. Hopper, Astrid K. Irwanto, Nick Orr, S Gerty, Fergus J. Couch, Arkom Chaiwerawattana, Manjeet K. Humphreys, Marjanka K. Schmidt, Maya Ghoussaini, Nikki Graham, Artitaya Lophatananon, Florence Menegaux, Enes Makalic, Katri Pylkäs, Nichola Johnson, Xianshu Wang, Bernardo Bonanni, Mark Lathrop
Přispěvatelé:	Human genetics, CCA - Oncogenesis, Clinical Genetics, Internal Medicine, Medical Oncology, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Human Genetics
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	Candidate gene Chromosomes Human Pair 21 analysis cell carcinoma Mammary gland Estrogen receptor Genome-wide association study developmental regulatory molecule 0302 clinical medicine common variants retinoic acid Pair 12 genetics hormone-related protein Genetics Chromosomes Human Pair 12 Treatment - Localised Therapies – Discovery and Development Principal Component Analysis 0303 health sciences Bone metastasis Single Nucleotide 3. Good health medicine.anatomical_structure 030220 oncology & carcinogenesis epidemiology Cancer Type - Breast Cancer Female Human Risk ulnar-mammary syndrome parathyroid-hormone European Continental Ancestry Group Breast Neoplasms Biology Chromosomes Polymorphism Single Nucleotide 03 medical and health sciences Breast cancer SDG 3 - Good Health and Well-being Translational research [ONCOL 3] Genetic predisposition medicine cancer Humans Women Genetic Predisposition to Disease Polymorphism Genetics and epigenetic pathways of disease Translational research [NCMLS 6] breast 030304 developmental biology Hereditary cancer and cancer-related syndromes [ONCOL 1] Cancer confer susceptibility medicine.disease gene-expression Logistic Models negative-feedback Genetic Loci Cancer research Other Chromosomes Human Pair 12 Chromosomes Human Pair 21 Genome-Wide Association Study Polymorphism Single Nucleotide Pair 21 Meta-Analysis
Zdroj:	Nature Genetics, 44, 312-8 Nature Genetics Nature Genetics, 44(3), 312-318. Nature Publishing Group Ghoussaini, M, Fletcher, O, Michailidou, K, Turnbull, C, Schmidt, M K, Dicks, E, Dennis, J, Wang, Q, Humphreys, M K, Luccarini, C, Baynes, C, Conroy, D, Maranian, M, Ahmed, S, Driver, K, Johnson, N, Orr, N, Silva, I D, Waisfisz, Q, Meijers-Heijboer, E J, Uitterlinden, A G, Rivadeneira, F, Hall, P, Czene, K, Irwanto, A, Liu, J J, Nevanlinna, H, Aittomaki, K, Blomqvist, C, Meindl, A, Schmutzler, R K, Muller-Myhsok, B, Lichtner, P, Chang-Claude, J, Hein, R, Nickels, S, Flesch-Janys, D, Tsimiklis, H, Makalic, E, Schmidt, D, Bui, M, Hopper, J L, Apicella, C, Park, D J, Southey, M, Hunter, D J, Chanock, S J, Broeks, A, Verhoef, S, Hogervorst, F B L, Fasching, P A, Lux, M P, Beckmann, M W, Ekici, A B, Sawyer, E, Tomlinson, I, Kerin, M, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenal, P, Truong, T, Cordina-Duverger, E, Menegaux, F, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Milne, R L, Alonso, M R, Gonzalez-Neira, A, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, C C, Brenner, H, Muller, H, Arndt, V, Stegmaier, C, Justenhoven, C, Brauch, H, Bruning, T, Wang-Gohrke, S, Eilber, U, Dork, T, Schurmann, P, Bremer, M, Hillemanns, P, Bogdanova, N V, Antonenkova, N N, Rogov, Y I, Karstens, J H, Bermisheva, M, Prokofieva, D, Khusnutdinova, E, Lindblom, A, Margolin, S, Peto, J & Easton, D F 2012, ' Genome-wide association analysis identifies three new breast cancer susceptibility loci ', Nature Genetics, vol. 44, no. 3, pp. 312-318 . https://doi.org/10.1038/ng.1049 Nature Genetics, 44, 3, pp. 312-8 Nature Genetics; Vol 44 Nature Genetics, 44(3), 312-U120 Nature Genetics, 44(3), 312-U120. Nature Publishing Group Nature genetics, 44(3), 312-U120. Nature Publishing Group
ISSN:	1061-4036
Popis:	Item does not contain fulltext Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for approximately 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfdb756063659a5c3cc42d69046f57c https://doi.org/10.1038/ng.1049 Zobrazit plný text záznamu Plný text ve formátu PDF