Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Autor: Fergus J Couch, Xianshu Wang, Lesley McGuffog, Andrew Lee, Curtis Olswold, Karoline B Kuchenbaecker, Penny Soucy, Zachary Fredericksen, Daniel Barrowdale, Joe Dennis, Mia M Gaudet, Ed Dicks, Matthew Kosel, Sue Healey, Olga M Sinilnikova, Adam Lee, François Bacot, Daniel Vincent, Frans B L Hogervorst, Susan Peock, Dominique Stoppa-Lyonnet, Anna Jakubowska, kConFab Investigators, Paolo Radice, Rita Katharina Schmutzler, SWE-BRCA, Susan M Domchek, Marion Piedmonte, Christian F Singer, Eitan Friedman, Mads Thomassen, Ontario Cancer Genetics Network, Thomas V O Hansen, Susan L Neuhausen, Csilla I Szabo, Ignacio Blanco, Mark H Greene, Beth Y Karlan, Judy Garber, Catherine M Phelan, Jeffrey N Weitzel, Marco Montagna, Edith Olah, Irene L Andrulis, Andrew K Godwin, Drakoulis Yannoukakos, David E Goldgar, Trinidad Caldes, Heli Nevanlinna, Ana Osorio, Mary Beth Terry, Mary B Daly, Elizabeth J van Rensburg, Ute Hamann, Susan J Ramus, Amanda Ewart Toland, Maria A Caligo, Olufunmilayo I Olopade, Nadine Tung, Kathleen Claes, Mary S Beattie, Melissa C Southey, Evgeny N Imyanitov, Marc Tischkowitz, Ramunas Janavicius, Esther M John, Ava Kwong, Orland Diez, Judith Balmaña, Rosa B Barkardottir, Banu K Arun, Gad Rennert, Soo-Hwang Teo, Patricia A Ganz, Ian Campbell, Annemarie H van der Hout, Carolien H M van Deurzen, Caroline Seynaeve, Encarna B Gómez Garcia, Flora E van Leeuwen, Hanne E J Meijers-Heijboer, Johannes J P Gille, Margreet G E M Ausems, Marinus J Blok, Marjolijn J L Ligtenberg, Matti A Rookus, Peter Devilee, Senno Verhoef, Theo A M van Os, Juul T Wijnen, HEBON, EMBRACE, Debra Frost, Steve Ellis, Elena Fineberg, Radka Platte, D Gareth Evans, Louise Izatt, Rosalind A Eeles, Julian Adlard, Diana M Eccles, Jackie Cook, Carole Brewer, Fiona Douglas, Shirley Hodgson, Patrick J Morrison, Lucy E Side, Alan Donaldson, Catherine Houghton, Mark T Rogers, Huw Dorkins, Jacqueline Eason, Helen Gregory, Emma McCann, Alex Murray, Alain Calender, Agnès Hardouin, Pascaline Berthet, Capucine Delnatte, Catherine Nogues, Christine Lasset, Claude Houdayer, Dominique Leroux, Etienne Rouleau, Fabienne Prieur, Francesca Damiola, Hagay Sobol, Isabelle Coupier, Laurence Venat-Bouvet, Laurent Castera, Marion Gauthier-Villars, Mélanie Léoné, Pascal Pujol, Sylvie Mazoyer, Yves-Jean Bignon, GEMO Study Collaborators, Elżbieta Złowocka-Perłowska, Jacek Gronwald, Jan Lubinski, Katarzyna Durda, Katarzyna Jaworska, Tomasz Huzarski, Amanda B Spurdle, Alessandra Viel, Bernard Peissel, Bernardo Bonanni, Giulia Melloni, Laura Ottini, Laura Papi, Liliana Varesco, Maria Grazia Tibiletti, Paolo Peterlongo, Sara Volorio, Siranoush Manoukian, Valeria Pensotti, Norbert Arnold, Christoph Engel, Helmut Deissler, Dorothea Gadzicki, Andrea Gehrig, Karin Kast, Kerstin Rhiem, Alfons Meindl, Dieter Niederacher, Nina Ditsch, Hansjoerg Plendl, Sabine Preisler-Adams, Stefanie Engert, Christian Sutter, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Bernhard H F Weber, Brita Arver, Marie Stenmark-Askmalm, Niklas Loman, Richard Rosenquist, Zakaria Einbeigi, Katherine L Nathanson, Timothy R Rebbeck, Stephanie V Blank, David E Cohn, Gustavo C Rodriguez, Laurie Small, Michael Friedlander, Victoria L Bae-Jump, Anneliese Fink-Retter, Christine Rappaport, Daphne Gschwantler-Kaulich, Georg Pfeiler, Muy-Kheng Tea, Noralane M Lindor, Bella Kaufman, Shani Shimon Paluch, Yael Laitman, Anne-Bine Skytte, Anne-Marie Gerdes, Inge Sokilde Pedersen, Sanne Traasdahl Moeller, Torben A Kruse, Uffe Birk Jensen, Joseph Vijai, Kara Sarrel, Mark Robson, Noah Kauff, Anna Marie Mulligan, Gord Glendon, Hilmi Ozcelik, Bent Ejlertsen, Finn C Nielsen, Lars Jønson, Mette K Andersen, Yuan Chun Ding, Linda Steele, Lenka Foretova, Alex Teulé, Conxi Lazaro, Joan Brunet, Miquel Angel Pujana, Phuong L Mai, Jennifer T Loud, Christine Walsh, Jenny Lester, Sandra Orsulic, Steven A Narod, Josef Herzog, Sharon R Sand, Silvia Tognazzo, Simona Agata, Tibor Vaszko, Joellen Weaver, Alexandra V Stavropoulou, Saundra S Buys, Atocha Romero, Miguel de la Hoya, Kristiina Aittomäki, Taru A Muranen, Mercedes Duran, Wendy K Chung, Adriana Lasa, Cecilia M Dorfling, Alexander Miron, BCFR, Javier Benitez, Leigha Senter, Dezheng Huo, Salina B Chan, Anna P Sokolenko, Jocelyne Chiquette, Laima Tihomirova, Tara M Friebel, Bjarni A Agnarsson, Karen H Lu, Flavio Lejbkowicz, Paul A James, Per Hall, Alison M Dunning, Daniel Tessier, Julie Cunningham, Susan L Slager, Chen Wang, Steven Hart, Kristen Stevens, Jacques Simard, Tomi Pastinen, Vernon S Pankratz, Kenneth Offit, Douglas F Easton, Georgia Chenevix-Trench, Antonis C Antoniou, CIMBA

Publikováno v: PLoS Genetics, Vol 9, Iss 3, p e1003212 (2013)

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839

Externí odkaz: https://doaj.org/article/562fabff17504ed5b986d8b1fddd37b7

An integrated bacterial system for the discovery of chemical rescuers of disease-associated protein misfolding

Autor: Stefania Panoutsou, Nikos Boukos, Georgios Skretas, Zacharoula I. Linardaki, Fragiskos N. Kolisis, Konstantinos D. Papavasileiou, Barbara Mavroidi, Marigoula Margarity, Dafni Chrysanthi Delivoria, Alexandra V. Stavropoulou, Stamatia Bellou, Ilias Matis, Manthos G. Papadopoulos, Spiros Efthimiopoulos, Niki Chondrogianni, Efstathios S. Gonos, Kostas Vekrellis, Maria Pelecanou, Nikoletta Papaevgeniou

Publikováno v: Nature Biomedical Engineering. 1:838-852

Protein misfolding and aggregation are common pathological features of several human diseases, including Alzheimer’s disease and type 2 diabetes. Here, we report an integrated and generalizable bacterial system for the facile discovery of chemical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b70e804e31946321a0a23c6155815728
https://doi.org/10.1038/s41551-017-0144-3

19p13.1 Is a Triple-Negative-Specific Breast Cancer Susceptibility Locus

Autor: Linde M. Braaf, Andreas Schneeweiss, Alexandra V. Stavropoulou, Elinor J. Sawyer, Christoph Engel, Pascal Guénel, Hans Ulrich Ulmer, Efraim H. Rosenberg, Mervi Grip, Hans-Peter Sinn, Chen-Yang Shen, Daniel J. Park, Monica Barile, Annie Perkins, Xianshu Wang, Susan L. Slager, Leslie Bernstein, José Ignacio Arias Peŕez, Puttisak Puttawibul, Gianluca Severi, Helen Gogas, Diana Eccles, Sara Margolin, Michael J. Kerin, Carl Blomqvist, Irene L. Andrulis, Minouk J. Schoemaker, Dario Greco, Javier Benitez, Matthias W. Beckmann, Maria Pilar Zamora, Qin Wang, Diether Lambrechts, Hoda Anton-Culver, Foluso O. Ademuyiwa, Veli-Matti Kosma, Mark E. Sherman, Anne Sophie Dieudonne, F Marmé, Helena Hwang, Peter Devilee, Shan Wang-Gohrke, Alina Vrieling, Melissa C. Southey, Annika Lindblom, Paolo Radice, Penelope Miron, Theŕeśe Truong, Per Hall, Douglas F. Easton, Siranoush Manoukian, Drakoulis Yannoukakos, Rita K. Schmutzler, Vessela N. Kristensen, Julian Peto, Jonathan Beesley, Arndt Hartmann, Priyanka Sharma, Alison M. Dunning, Paolo Peterlongo, Christine B. Ambrosone, Henrik Flyger, Nichola Johnson, Jonine D. Figueroa, Barbara Burwinkel, Kenneth Muir, Roger L. Milne, Sigrid Hatse, Julia A. Knight, Ylermi Soini, Alan Ashworth, Artitaya Lophatananon, Robert Winqvist, Alfons Meindl, Thomas Rüdiger, George Fountzilas, Annegien Broeks, Simon S. Cross, Rob A. E. M. Tollenaar, Paul D.P. Pharoah, Alexander Miron, Montserrat Garcia-Closas, Laura Baglietto, Matthew L. Kosel, Arif B. Ekici, Heiko Müller, Jyh Cherng Yu, Grethe Grenaker Alnsæ, Argyrios Ziogas, Thomas Dünnebier, Ian Tomlinson, Anna Marie Mulligan, Ruth Swann, Chia-Ni Hsiung, Sarah Schott, Christina Clarke Dur, Catriona McLean, Georgia Chenevix-Trench, Caroline Seynaeve, Hiltrud Brauch, Orr Nicholas, Carmel Apicella, Vernon S. Pankratz, Olivia Fletcher, Surapon Wiangnon, Arja Jukkola-Vuorinen, Anne Lise Brøresen-Dale, Dieter Flesch-Janys, Fergus J. Couch, Peter A. Fasching, Brøge G. Nordestgaard, Kristiina Aittomäki, Marie Rose Christiaens, Jaana M. Hartikainen, Manjeet K. Humphreys, Ute Hamann, Marjanka K. Schmidt, Isabel dos Santos Silva, Harsh B. Pathak, Janet E. Olson, Jenny Chang-Claude, Graham G. Giles, Miriam Dwek, Stig E. Bojesen, Florence Menegaux, Christa Stegmaier, Katri Pylkäs, Huan Ming Hsu, Sune F. Nielsen, Christof Sohn, Kamila Czene, Claus R. Bartram, Jo Ellen Weaver, John L. Hopper, Xiaoqing Chen, Emilie Cordina-Duverger, Stefan Nickels, Esther M. John, Heli Nevanlinna, Jolanta Lissowska, Zachary S. Fredericksen, Angela Cox, Maartje J. Hooning, Volker Arndt, MW Reed, Celine M. Vachon, Yon Ko, Anthony J. Swerdlow, Gord Glendon, Hans Fischer, Arto Mannermaa, Kristen N. Stevens, Hermann Brenner, Andrew K. Godwin

Publikováno v: Cancer Research; Vol 72
Cancer Research
Cancer Research, 72(7), 1795-1803. American Association for Cancer Research Inc.
Cancer Research, 72(7), 1795-1803

The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d97bea7536cffffb027cb52057107ba3

In vivoBiological Activity of the Histone Deacetylase Inhibitor LAQ824 Is detectable with 3′-Deoxy-3′-[18F]Fluorothymidine Positron Emission Tomography

Autor: Paul Workman, John P. Alao, Eric O. Aboagye, Alexandra V. Stavropoulou, Marco Da Costa, Eric Lam, David M. Vigushin, Qimin He, Radhakrishna Gopala Pillai, Meg Perumal, Julius Leyton, John R. Latigo, Peter Atadja

Publikováno v: Cancer Research. 66:7621-7629

Histone deacetylase inhibitors (HDACI) are emerging as growth inhibitory compounds that modulate gene expression and inhibit tumor cell proliferation. We assessed whether 3′-deoxy-3′-[18F]fluorothymidine–positron emission tomography ([18F]FLT-P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a93dc9dce5535d08ba3288d59a29709
https://doi.org/10.1158/0008-5472.can-05-3962

Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases

Autor: George Fountzilas, Alexandra V. Stavropoulou, Meletios A. Dimopoulos, Gerassimos E. Voutsinas, George Pentheroudakis, Thomas Makatsoris, Florentia Fostira, Dimitrios Pectasides, Eleni Timotheadou, Gerasimos Aravantinos, G. Klouvas, Maroulio Pertesi, Olga Triantafyllidou, Christos Christodoulou, Irene Konstantopoulou, Vassilis Karydakis, Christos Papadimitriou, Drakoulis Yannoukakos, Aristotelis Bamias, Marianthi Tsitlaidou

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e58182 (2013)
PLoS ONE

Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5329debfbf643f6dcc1c66290c63945
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23536787/?tool=EBI