Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2.

Autor: Tomas Kirchhoff, Mia M Gaudet, Antonis C Antoniou, Lesley McGuffog, Manjeet K Humphreys, Alison M Dunning, Stig E Bojesen, Børge G Nordestgaard, Henrik Flyger, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Sei-Hyun Ahn, Thilo Dork, Peter Schürmann, Johann H Karstens, Peter Hillemanns, Fergus J Couch, Janet Olson, Celine Vachon, Xianshu Wang, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Barbara Burwinkel, Alfons Meindl, Hiltrud Brauch, Ute Hamann, Yon-Dschun Ko, GENICA Network, Annegien Broeks, Marjanka K Schmidt, Laura J Van 't Veer, Linde M Braaf, Nichola Johnson, Olivia Fletcher, Lorna Gibson, Julian Peto, Clare Turnbull, Sheila Seal, Anthony Renwick, Nazneen Rahman, Pei-Ei Wu, Jyh-Cherng Yu, Chia-Ni Hsiung, Chen-Yang Shen, Melissa C Southey, John L Hopper, Fleur Hammet, Thijs Van Dorpe, Anne-Sophie Dieudonne, Sigrid Hatse, Diether Lambrechts, Irene L Andrulis, Natalia Bogdanova, Natalia Antonenkova, Juri I Rogov, Daria Prokofieva, Marina Bermisheva, Elza Khusnutdinova, Christi J van Asperen, Robert A E M Tollenaar, Maartje J Hooning, Peter Devilee, Sara Margolin, Annika Lindblom, Roger L Milne, José Ignacio Arias, M Pilar Zamora, Javier Benítez, Gianluca Severi, Laura Baglietto, Graham G Giles, kConFab, AOCS Study Group, Amanda B Spurdle, Jonathan Beesley, Xiaoqing Chen, Helene Holland, Sue Healey, Shan Wang-Gohrke, Jenny Chang-Claude, Arto Mannermaa, Veli-Matti Kosma, Jaana Kauppinen, Vesa Kataja, Bjarni A Agnarsson, Maria A Caligo, Andrew K Godwin, Heli Nevanlinna, Tuomas Heikkinen, Zachary Fredericksen, Noralane Lindor, Katherine L Nathanson, Susan M Domchek, SWE-BRCA, Niklas Loman, Per Karlsson, Marie Stenmark Askmalm, Beatrice Melin, Anna von Wachenfeldt, HEBON, Frans B L Hogervorst, Martijn Verheus, Matti A Rookus, Caroline Seynaeve, Rogier A Oldenburg, Marjolijn J Ligtenberg, Margreet G E M Ausems, Cora M Aalfs, Hans J P Gille, Juul T Wijnen, Encarna B Gómez García, EMBRACE, Susan Peock, Margaret Cook, Clare T Oliver, Debra Frost, Craig Luccarini, Gabriella Pichert, Rosemarie Davidson, Carol Chu, Diana Eccles, Kai-Ren Ong, Jackie Cook, Fiona Douglas, Shirley Hodgson, D Gareth Evans, Rosalind Eeles, Bert Gold, Paul D P Pharoah, Kenneth Offit, Georgia Chenevix-Trench, Douglas F Easton, BCAC/CIMBA

Publikováno v: PLoS ONE, Vol 7, Iss 6, p e35706 (2012)

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the pre

Externí odkaz: https://doaj.org/article/1433592c7c844e02a12dd57e5bf1a0a8

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Cross-cancer GWAS meta-analysis of more than 370,000 cases and 530,000 controls identifies multiple novel cancer risk regions

Autor: Lindstrom, S, Kar, S, Wang, L, Turman, C, MacDonald, J, Bammler, T, BCAC, OCAC, PRACTICAL, Huyghe, J, Schmit, S, O'Mara, TA, Thompson, DJ, Gharahkhani, P, MacGregor, S, Brennan, P, Houlston, RS, Melin, BS, Amos, CI, McKay, J, Iles, MM, Law, MH, Klein, A, Amundadottir, L, Pasaniuc, B, Pharoah, P, Hung, RJ, Kraft, P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::ab1f702d60a9eda921c888d8699f6b05

Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers

Autor: Montserrat Garcia-Closas, Ellen L. Goode, Mark M. Iles, Brian M. Wolpin, Stephen J. Chanock, Susan L. Slager, Li Hsu, Clare Turnbull, Ccfr, Michael Hoffmeister, Peter T. Campbell, Maria Teresa Landi, Paul D.P. Pharoah, Amber N. Hurson, Melissa L. Bondy, Roger L. Milne, Peter A. Kanetsky, Simon A. Gayther, Christopher A. Haiman, Nicola J. Camp, Mark A. Jenkins, Margaret Wrensch, Bcac, Ulrike Peters, Jill S. Barnholtz-Sloan, Richard S. Houlston, PanScan, Haoyu Zhang, Christopher I. Amos, Ben Kinnersley, GenoMEL, Florence Demenais, Rosalind A. Eeles, Katherine A. McGlynn, Practical, John K. Wiencke, Gicc, Katherine L. Nathanson, Stolzenberg-Solomon R, Brenda M. Birmann, Rayjean J. Hung, Donghui Li, David C. Whiteman, Ghislaine Scelo, Sonja I. Berndt, Alison P. Klein, Sarah V. Ward, Per Hall, D. Timothy Bishop, Tracy A. O'Mara, Kirsten B. Moysich, Corect, Laufey T. Amundadottir, Marjanka K. Schmidt, Ian Tomlinson, Ocac, Yan Zhang, Gloria M. Petersen, Ali Amin Al Olama, Puya Gharahkhani, Deborah J. Thompson, Paul Brennan, Douglas F. Easton, Celeste Leigh Pearce, InterLymph, Jacques Simard, Mark H. Greene, Zsofia Kote-Jarai, Nilanjan Chatterjee, Ecac, Marlene Danner Dalgaard, Mark P. Purdue, Beatrice Melin, Graham Casey, Rajesh Kumar, Jenny Chang-Claude, Thomas A. Sellers, Stephen B. Gruber, Beacon, James D. McKay, Tecac, Stephanie L. Schmit, Tom Grotmol, Kyriaki Michailidou, Immaculata De Vivo, Joellen M. Schildkraut, Eric J. Jacobs, Fredrik Wiklund, Amanda B. Spurdle, Nathaniel Rothman, Parichoy Pal Choudhury, Peter Kraft, Panc, Renal Cancer Gwas, Neil E. Caporaso, Joe Dennis, Matthew Law, Fredrick R. Schumacher, Harvey A. Risch, Stuart MacGregor, Andrew Berchuck, Ilcco, Oral Cancer Gwas

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Zhang, Y D, Hurson, A N, Zhang, H, Choudhury, P P, Easton, D F, Milne, R L, Simard, J, Hall, P, Michailidou, K, Dennis, J, Schmidt, M K, Chang-Claude, J, Gharahkhani, P, Whiteman, D, Campbell, P T, Hoffmeister, M, Jenkins, M, Peters, U, Hsu, L, Gruber, S B, Casey, G, Schmit, S L, O’Mara, T A, Spurdle, A B, Thompson, D J, Tomlinson, I, De Vivo, I, Landi, M T, Law, M H, Iles, M M, Demenais, F, Kumar, R, MacGregor, S, Bishop, D T, Ward, S V, Bondy, M L, Houlston, R, Wiencke, J K, Melin, B, Barnholtz-Sloan, J, Kinnersley, B, Wrensch, M R, Amos, C I, Hung, R J, Brennan, P, McKay, J, Caporaso, N E, Berndt, S I, Birmann, B M, Camp, N J, Kraft, P, Rothman, N, Slager, S L, Berchuck, A, Pharoah, P D P, Sellers, T A, Gayther, S A, Pearce, C L, Goode, E L, Schildkraut, J M, Moysich, K B, Amundadottir, L T, Jacobs, E J, Klein, A P, Petersen, G M, Risch, H A, Stolzenberg-Solomon, R Z, Wolpin, B M, Li, D, Eeles, R A, Haiman, C A, Kote-Jarai, Z, Schumacher, F R, Al Olama, A A, Purdue, M P, Scelo, G, Dalgaard, M D, Greene, M H, Grotmol, T, Kanetsky, P A, McGlynn, K A, Nathanson, K L, Turnbull, C, Wiklund, F, Bishop, D T, Chanock, S J, Chatterjee, N & Garcia-Closas, M 2020, ' Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers ', Nature Communications, vol. 11, no. 1, 3353 . https://doi.org/10.1038/s41467-020-16483-3
Nature Communications
Zhang, Y D, Hurson, A N, Zhang, H, Choudhury, P P, Easton, D F, Milne, R L, Simard, J, Hall, P, Michailidou, K, Dennis, J, Schmidt, M K, Chang-claude, J, Gharahkhani, P, Whiteman, D, Campbell, P T, Hoffmeister, M, Jenkins, M, Peters, U, Hsu, L, Gruber, S B, Casey, G, Schmit, S L, O’mara, T A, Spurdle, A B, Thompson, D J, Tomlinson, I, De Vivo, I, Landi, M T, Law, M H, Iles, M M, Demenais, F, Kumar, R, Macgregor, S, Bishop, D T, Ward, S V, Bondy, M L, Houlston, R, Wiencke, J K, Melin, B, Barnholtz-sloan, J, Kinnersley, B, Wrensch, M R, Amos, C I, Hung, R J, Brennan, P, Mckay, J, Caporaso, N E, Berndt, S I, Birmann, B M, Camp, N J, Kraft, P, Rothman, N, Slager, S L, Berchuck, A, Pharoah, P D P, Sellers, T A, Gayther, S A, Pearce, C L, Goode, E L, Schildkraut, J M, Moysich, K B, Amundadottir, L T, Jacobs, E J, Klein, A P, Petersen, G M, Risch, H A, Stolzenberg-solomon, R Z, Wolpin, B M, Li, D, Eeles, R A, Haiman, C A, Kote-jarai, Z, Schumacher, F R, Al Olama, A A, Purdue, M P, Scelo, G, Dalgaard, M D, Greene, M H, Grotmol, T, Kanetsky, P A, Mcglynn, K A, Nathanson, K L, Turnbull, C, Wiklund, F, Chanock, S J, Chatterjee, N & Garcia-closas, M 2020, ' Assessment of polygenic architecture and risk prediction based on common variants across fourteen cancers ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-16483-3

Genome-wide association studies (GWAS) have led to the identification of hundreds of susceptibility loci across cancers, but the impact of further studies remains uncertain. Here we analyse summary-level data from GWAS of European ancestry across fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e8e609c25614fbed083ff54499bd1fd
https://www.repository.cam.ac.uk/handle/1810/324794

Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer

Autor: Verena Zuber, Francesco Bettella, Aree Witoelar, the PRACTICAL Consortium, the CRUK GWAS, the BCAC Consortium, the TRICL Consortium, Ole A. Andreassen, Ian G. Mills, Alfonso Urbanucci

Publikováno v: BMC Genomics, Vol 18, Iss 1, Pp 1-11 (2017)

Background Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::48ad866ef2918c2b15289959fad773fe
http://link.springer.com/article/10.1186/s12864-017-3620-y