Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).

Autor: Rebecca Hein, Melanie Maranian, John L Hopper, Miroslaw K Kapuscinski, Melissa C Southey, Daniel J Park, Marjanka K Schmidt, Annegien Broeks, Frans B L Hogervorst, H Bas Bueno-de-Mesquita, Kenneth R Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Peter A Fasching, Alexander Hein, Arif B Ekici, Matthias W Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Frederick Marmee, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Pascal Guénel, Emilie Cordina-Duverger, Florence Menegaux, Thérèse Truong, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Roger L Milne, Jose Ignacio Arias Perez, M Pilar Zamora, Javier Benítez, Hoda Anton-Culver, Argyrios Ziogas, Leslie Bernstein, Christina A Clarke, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Nazneen Rahman, Sheila Seal, Clare Turnbull, Anthony Renwick, Alfons Meindl, Sarah Schott, Claus R Bartram, Rita K Schmutzler, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, GENICA Network, Shan Wang-Gohrke, Thilo Dörk, Peter Schürmann, Johann H Karstens, Peter Hillemanns, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Iosif V Zalutsky, Natalia N Antonenkova, Marina Bermisheva, Darya Prokovieva, Albina Farahtdinova, Elza Khusnutdinova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana Hartikainen, Xiaoqing Chen, Jonathan Beesley, Kconfab Investigators, AOCS Group, Diether Lambrechts, Hui Zhao, Patrick Neven, Hans Wildiers, Stefan Nickels, Dieter Flesch-Janys, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Fergus J Couch, Janet E Olson, Xianshu Wang, Zachary Fredericksen, Graham G Giles, Laura Baglietto, Catriona A McLean, Gianluca Severi, Kenneth Offit, Mark Robson, Mia M Gaudet, Joseph Vijai, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børresen-Dale, Esther M John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Irene L Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Jonine D Figueroa, Montserrat García-Closas, Jolanta Lissowska, Mark E Sherman, Maartje Hooning, John W M Martens, Caroline Seynaeve, Margriet Collée, Per Hall, Keith Humpreys, Kamila Czene, Jianjun Liu, Angela Cox, Ian W Brock, Simon S Cross, Malcolm W R Reed, Shahana Ahmed, Maya Ghoussaini, Paul D P Pharoah, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Anna Jakubowska, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Suleeporn Sangrajrang, Valerie Gaborieau, Paul Brennan, James McKay, Chen-Yang Shen, Jyh-Cherng Yu, Huan-Ming Hsu, Ming-Feng Hou, Nick Orr, Minouk Schoemaker, Alan Ashworth, Anthony Swerdlow, Amy Trentham-Dietz, Polly A Newcomb, Linda Titus, Kathleen M Egan, Georgia Chenevix-Trench, Antonis C Antoniou, Manjeet K Humphreys, Jonathan Morrison, Jenny Chang-Claude, Douglas F Easton, Alison M Dunning

Publikováno v: PLoS ONE, Vol 7, Iss 8, p e42380 (2012)

The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the assoc

Externí odkaz: https://doaj.org/article/bcfd88daf90c42a397f31d12f9e2759f

Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array

Autor: Artitaya Lophatananon, W. Ryan Diver, Stig E. Bojesen, Roman Corral, Fredrick R. Schumacher, Stephen J. Chanock, Shannon K. McDonnell, Graham G. Giles, Craig C. Teerlink, Douglas F. Easton, Cezary Cybulski, Brian E. Henderson, Judith A. Clements, Ali Amin Al Olama, Francois Bacot, David P. Dearnaley, Elio Riboli, Peter Klarskov, Daniel Vincent, Rosemary A. Wilkinson, Danielle M. Karyadi, Michelle Guy, Vincent Khoo, Christopher A. Haiman, Afshan Siddiq, M. Andreas Røder, Amit Joshi, Jong Y. Park, Walther Vogel, Henrik Grönberg, Angela Cox, Rudolf Kaaks, Nora Pashayan, Timothy J. Key, C. R. J. Woodhouse, Jarmo Virtamo, Meredith Yeager, Malgorzata Tymrakiewicz, Sune F. Nielsen, Richard B. Hayes, Johanna Schleutker, Gianluca Severi, Robert Huddart, Wei Zheng, Thomas A. Sellers, Melanie Maranian, Shahana Ahmed, David E. Neal, Daniel Leongamornlert, Zsofia Kote-Jarai, Tiina Wahlfors, Loic Le Marchand, Kay-Tee Khaw, Tokhir Dadaev, Lisa A. Cannon-Albright, Janet L. Stanford, William J. Blot, Andy C. H. Lee, Freddie C. Hamdy, Siqun L. Zheng, Rosalind A. Eeles, Alison M. Dunning, Mariana C. Stern, Melissa C. Southey, Don M. Conroy, Kenneth Muir, Ahva Shahabi, Alan Horwich, Gerald L. Andriole, Antje E. Rinckleb, Srilakshmi Srinivasan, Tim Dudderidge, Joe Dennis, Radka Kaneva, Vanio Mitev, Angela Morgan, Sue A. Ingles, Adam S. Kibel, Markus Aly, Koveela Govindasami, Maya Ghoussaini, Jenny L Donovan, Manuel R. Teixeira, Emma J. Sawyer, Sara Lindström, Jiangfeng Xu, Maren Weischer, Ed Dicks, Jyotsna Batra, S Jugurnauth-Little, Hui-Yi Lin, Suzanne Kolb, Lisa B. Signorello, Dallas R. English, Antonis C. Antoniou, Federico Canzian, Anssi Auvinen, Mia M. Gaudet, Paula Paulo, Paul D.P. Pharoah, Heiko Müller, Qiuyin Cai, Børge G. Nordestgaard, Esther M. John, Sonja I. Berndt, D J Schaid, Daniele Campa, Chris Ogden, Colin Cooper, Craig Luccarini, Jan Lubinski, Elaine A. Ostrander, Ruth C. Travis, Dominika Wokołorczyk, John L. Hopper, Sofia Maia, Sara Benlloch, Chris Parker, Erika M. Kwon, Nicholas van As, Caroline Baynes, C. Slavov, Teuvo L.J. Tammela, Ethan M. Lange, Daniel C. Tessier, David J. Hunter, Dietrich Rothenbacher, Robert A. Stephenson, Liesel M. FitzGerald, Christiane Maier, Hermann Brenner, Kathleen A. Cooney, Graham A. Colditz, Felicity Lose, Edward J. Saunders, Demetrius Albanes, Stephen N. Thibodeau, Fredrik Wiklund, Amanda B. Spurdle, Jan Adolfsson, Susan M. Gapstur, Peter Kraft, Bettina F. Drake, Alan Thompson

Publikováno v: Nature Genetics
Nature Genetics; Vol 45

Prostate cancer is the most frequently diagnosed cancer in males in developed countries. To identify common prostate cancer susceptibility alleles, we genotyped 211,155 SNPs on a custom Illumina array (iCOGS) in blood DNA from 25,074 prostate cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc5d5f82460009b403d064c3a16e687
https://doi.org/10.1038/ng.2560

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

Autor: Amanda B. Spurdle, Manjeet K. Humphreys, Douglas F. Easton, Marjanka K. Schmidt, F.E. van Leeuwen, Letitia D. Smith, R.A.E.M. Tollenaar, Arto Mannermaa, Daehee Kang, Ian W. Brock, S. E. Bojesen, Jianjun Liu, Alfons Meindl, Melissa C. Southey, José Ignacio Arias, Louise A. Brinton, Jonathan Beesley, Keith Humphreys, Argyrios Ziogas, Jenny Chang-Claude, Laura Baglietto, I dos Santos Silva, G. Elliott, Caroline Seynaeve, Paul D.P. Pharoah, Antonenkova Nn, Peter Devilee, Janet E. Olson, Fergus J. Couch, Georgia Chenevix-Trench, Nicola F. Johnson, MW Reed, Ute Hamann, Vesa Kataja, Roger L. Milne, Nick Orr, Annegien Broeks, Sara Margolin, Dallas R. English, Natalia Bogdanova, Guillermo Pita, L.J. van 't Veer, Matthias W. Beckmann, Carl Blomqvist, M Garcia-Closas, Radka Platte, Keun-Young Yoo, Kristiina Aittomäki, H. Flyger, Dong-Young Noh, Reiner Strick, Iosif V. Zalutsky, Thilo Dörk, Alison M. Dunning, Peter Schürmann, Angela Cox, S. Chanock, Hiltrud Brauch, Melanie Maranian, Peter A. Fasching, Shahana Ahmed, Michael Bremer, Heli Nevanlinna, Tuomas Heikkinen, Kamila Czene, Jolanta Lissowska, Gianluca Severi, Claus R. Bartram, Regina Waltes, John L. Hopper, Zachary S. Fredericksen, Graham G. Giles, Arif B. Ekici, Yon-Dschun Ko, Annika Lindblom, Jonathan J. Morrison, Shan Wang-Gohrke, Rita K. Schmutzler, Julian Peto, Børge G. Nordestgaard, Barbara Burwinkel, Javier Benitez, Hoda Anton-Culver, Veli-Matti Kosma, Olivia Fletcher, Xianshu Wang, Per Hall, Alan Ashworth, C. J. van Asperen

Publikováno v: Fletcher, O, Johnson, N, dos Santos Silva, I, Orr, N, Ashworth, A, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Burwinkel, B, Bartram, C R, Meindl, A, Schmutzler, R K, Cox, A, Brock, I, Elliott, G, Reed, M W, Southey, M C, Smith, L, Spurdle, A B, Hopper, J L, Couch, F J, Olson, J E, Wang, X, Fredericksen, Z, Schurmann, P, Waltes, R, Bremer, M, Dork, T, Devilee, P, van Asperen, C J, Tollenaar, R A, Seynaeve, C, Hall, P, Czene, K, Humphreys, K, Liu, J, Ahmed, S, Dunning, A M, Maranian, M, Pharoah, P D, Chenevix-Trench, G, Beesley, J, Bogdanova, N V, Antonenkova, N N, Zalutsky, I V, Anton-Culver, H, Ziogas, A, Brauch, H, Ko, Y D, Hamann, U, Fasching, P A, Strick, R, Ekici, A B, Beckmann, M W, Giles, G G, Severi, G, Baglietto, L, English, D R, Milne, R L, Benitez, J, Arias, J I, Pita, G, Nordestgaard, B G, Bojesen, S E, Flyger, H, Kang, D, Yoo, K Y, Noh, D Y, Mannermaa, A, Kataja, V, Kosma, V M, Garcia-Closas, M, Chanock, S, Lissowska, J, Brinton, L A, Chang-Claude, J, Wang-Gohrke, S, Broeks, A, Schmidt, M K, van Leeuwen, F E, van 't Veer, L J, Margolin, S, Lindblom, A, Humphreys, M K, Morrison, J, Platte, R, Easton, D F & Peto, J 2010, ' Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls ', Cancer Epidemiology Biomarkers and Prevention, vol. 19, no. 9, pp. 2143-2151 . https://doi.org/10.1158/1055-9965.EPI-10-0374
Cancer Epidemiology Biomarkers and Prevention, 19(9), 2143-2151. American Association for Cancer Research Inc.
Capital Region of Denmark
Cancer Epidemiology Biomarkers & Prevention, 19(9), 2143-2151. American Association for Cancer Research Inc.

Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. Methods: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7851e5102c0bcd5dafaf9c34829e9a64
https://hdl.handle.net/1871/45759

Risk of Estrogen Receptor-Positive and -Negative Breast Cancer and Single-Nucleotide Polymorphism 2q35-rs13387042

Autor: Gianluca Severi, Hoda Anton-Culver, Veli-Matti Kosma, Peter Hillemanns, Louise A. Brinton, Douglas F. Easton, Georgia Chenevix-Trench, Roger L. Milne, Hui-Chun Wang, Chen-Yang Shen, Christie J. van Asperen, Hiltrud Brauch, M. Pilar Zamora, Rob A. E. M. Tollenaar, Heli Nevanlinna, Kristiina Aittomäki, Olivia Fletcher, Melissa C. Southey, Malcolm W.R. Reed, Jonathan Beesley, Jolanta Lissowska, Isabel dos Santos Silva, Nichola Johnson, Stig E. Bojesen, Per Hall, José Ignacio Arias, Tuomas Heikkinen, Janet E. Olson, Ian W. Brock, Clare Turnbull, Tatjana Nikolaeva, Dong-Young Noh, Yuqing Li, Paul D.P. Pharoah, Michael Bremer, Matthias W. Beckmann, Alison M. Dunning, Kamila Czene, Radka Platte, Keun-Young Yoo, Claus R. Bartram, Letitia D. Smith, John L. Hopper, kConFab Investigators, Natalia Antonenkova, Natalia Bogdanova, Stephen J. Chanock, Graeme Elliott, Vesa Kataja, Christina Justenhoven, Zachary S. Fredericksen, Thilo Dörk, Daehee Kang, Reiner Strick, Iosif V. Zalutsky, Shan Wang-Gohrke, Melanie Maranian, Shahana Ahmed, Peter Schürmann, Angela Cox, Arif B. Ekici, Sou-Tong Chen, Fergus J. Couch, Argyrios Ziogas, Jonathan J. Morrison, Jenny Chang-Claude, Yon-Dschun Ko, Henrik Flyger, Jianjun Liu, Peter A. Fasching, Caroline Seynaeve, Marina Bermisheva, Dallas R. English, Graham G. Giles, Xianshu Wang, Montserrat Garcia-Closas, Jyh-Cherng Yu, Nazneen Rahman, Elza Khusnutdinova, Rita K. Schmutzler, Julian Peto, Børge G. Nordestgaard, Carl Blomqvist, Barbara Burwinkel, Anthony Renwick, Manjeet K. Humphreys, Amanda B. Spurdle, Arto Mannermaa, Susanne Haas, Sarah Hines, Peter Devilee, Alfons Meindl, Laura Baglietto, Javier Benitez

Publikováno v: Journal of the National Cancer Institute, 101(14), 1012-1018. Oxford University Press

Background: A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)–positive breast cancer. We attempted to confirm this association using the Br

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4067173ff1c3081ef50795d247d14bc7
https://pure.eur.nl/en/publications/578f64ed-03dd-4091-b1fd-0b348d5963a6

Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity

Autor: Karen Tait, Stephen C. L. Gough, John A. Todd, Iain A. Eaves, Joanne M. Heward, Stephen Sawcer, A. H. Barnett, Melanie Maranian, Hywel Snook, Jayne A. Franklyn, Alastair Compston, J. E. Collins

Publikováno v: Diabetic Medicine. 21:267-270

Aims The Type 1 diabetes susceptibility locus, IDDM2, has been mapped to a variable number of tandem repeats (VNTR) region 5′ upstream of the insulin (INS) and insulin-like growth factor (IGF2) genes on chromosome 11p15. The function of the VNTR is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ebdb1018da60802b26b3b42e4a319a97
https://doi.org/10.1111/j.1464-5491.2004.01129.x