المؤلفون: Pascal Guénel, John J. Spinelli, Hoda Anton-Culver, Veli-Matti Kosma, Beth Y. Karlan, Antonis C. Antoniou, Brian D. Carter, Drakoulis Yannoukakos, Orland Diez, Montserrat Garcia-Closas, Uffe Birk Jensen, Susan M. Gapstur, Christine L. Clarke, Florentia Fostira, Trinidad Caldés, Wei Zheng, Diana Eccles, Don M. Conroy, Kristan J. Aronson, Sara Margolin, Thomas U. Ahearn, Hedy S. Rennert, Evgeny N. Imyanitov, Rulla M. Tamimi, Mary Beth Terry, Jenny Chang-Claude, Per Hall, Daniel R. Barnes, Alex Teulé, D. Gareth Evans, Åke Borg, Frans B. L. Hogervorst, Yon-Dschun Ko, Celine M. Vachon, Graham G. Giles, Simona Agata, Gad Rennert, Yuan Chun Ding, J. Margriet Collée, Alison M. Dunning, Regina M. Santella, Banu Arun, William J. Tapper, Melissa C. Southey, Finn Cilius Nielsen, Michael T. Parsons, Marjanka K. Schmidt, Alfons Meindl, Vassilios Georgoulias, Simon A. Gayther, Debra Frost, Noura Mebirouk, Hebon Investigators, Austin Miller, Sue K. Park, Anthony J Swerdlow, Emmanouil Saloustros, Isabel dos-Santos-Silva, Laura Ottini, Jack A. Taylor, Siranoush Manoukian, Maria A. Caligo, Douglas F. Easton, Christoph Engel, Antoinette Hollestelle, Ana Vega, Muriel A. Adank, Mia M. Gaudet, Heko Becher, Lothar Haeberle, Priyanka Sharma, Katherine L. Nathanson, Mads Thomassen, Miriam Dwek, Manuela Gago-Dominguez, Hiltrud Brauch, Kamila Czene, Peter A. Fasching, Peter J. Hulick, David E. Goldgar, Lesley McGuffog, Anna Jakubowska, Paul D.P. Pharoah, Adrià López-Fernández, Bruce Poppe, Volker Arndt, Georgia Chenevix-Trench, Tjoung-Won Park-Simon, Jennifer Stone, Wendy K. Chung, Joseph Vijai, Qin Wang, Penny Soucy, Miquel Angel Pujana, Diether Lambrechts, Vanesa García-Barberán, Andrea Gehrig, Anna González-Neira, Thérèse Truong, Jenny Lester, Wei He, Dale P. Sandler, Rita K. Schmutzler, Julian Peto, A. Heather Eliassen, Paolo Radice, Yael Laitman, Johanna Rantala, Kelly-Anne Phillips, Amanda E. Toland, Bernardo Bonanni, Muhammad Usman Rashid, Heli Nevanlinna, John L. Hopper, Kevin Punie, kConFab Investigators, Thilo Dörk, Judy Garber, Alison H. Trainer, Irene L. Andrulis, Jeffrey N. Weitzel, Michael Jones, Caroline Baynes, David J. Hunter, Mark S. Goldberg, Kristiina Aittomäki, Barbara Burwinkel, Jonathan Beesley, Maria Rossing, Norbert Arnold, Kathleen Claes, Renske Keeman, Esther M. John, John W.M. Martens, Katie M. O'Brien, Paolo Peterlongo, Mark H. Greene, Tracy A. O'Mara, Saundra S. Buys, Craig Luccarini, Atocha Romero, Paul A. James, Siddhartha Yadav, Zoe Steinsnyder, Diana Torres, Rudolf Kaaks, Camilla Wendt, Fabienne Lesueur, Ana Osorio, Olufunmilayo I. Olopade, Christopher A. Haiman, Agnes Jager, Tricia Lindstrom, Peter Devilee, Kristin K. Zorn, Loic Le Marchand, Darling J. Horcasitas, Michael Lush, Mark E. Robson, Jennifer T. Loud, Roger L. Milne, Lin Fritschi, Johanna I. Kiiski, Eric Hahnen, Jacques Simard, Annelie Augustinsson, Stig E. Bojesen, Kenneth Offit, Nadine Andrieu, Xiaohong R. Yang, Pooja Middha Kapoor, Joe Dennis, Beth N. Peshkin, Nadege Presneau, Darcy L. Thull, Fergus J. Couch, Gunnar Schmidt, Ute Hamann, Susan M. Domchek, Henrik Flyger, Mary B. Daly, Håkan Olsson, Clarice R. Weinberg, Niclas Håkansson, Elza Khusnutdinova, Inge Søkilde Pedersen, Manjeet K. Bolla, Steven N. Hart, Carl Blomqvist, Janet E. Olson, Maren T. Scheuner, Barbara Wappenschmidt, Marc Tischkowitz, Dominique Stoppa-Lyonnet, Nadine Tung, Stephen J. Chanock, Leslie Bernstein, Mikael Eriksson, José A. García-Sáenz, Jonathan Tyrer, Jose E. Castelao, Peter Kraft, Goska Leslie, Arto Mannermaa, Christopher G. Scott, Jacopo Azzollini, Eitan Friedman, Allison W. Kurian, Katarzyna Białkowska, Argyrios Ziogas, Hermann Brenner, Andrew K. Godwin, Patricia Harrington, Juliette Coignard, Daniele Campa, Susan L. Neuhausen, Marco Montagna, Marina Bermisheva, Alicja Wolk, Eric C. Polley, Abctb Investigators, Daniel Barrowdale

المصدر: Nature Communications
Nat Commun
Nature Communications, Vol 12, Iss 1, Pp 1-2 (2021)

مصطلحات موضوعية: Adult, Genotype, media_common.quotation_subject, Science, Quantitative Trait Loci, General Physics and Astronomy, Breast Neoplasms, 02 engineering and technology, Brca1 brca2, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Linkage Disequilibrium, 03 medical and health sciences, Breast cancer, Cancer epidemiology, Humans, Genetic Predisposition to Disease, Author Correction, Cancer genetics, Alleles, 030304 developmental biology, media_common, BRCA2 Protein, 0303 health sciences, Multidisciplinary, BRCA1 Protein, Published Erratum, General Chemistry, Art, Middle Aged, 021001 nanoscience & nanotechnology, 3. Good health, Risk factors, Mutation, Female, 0210 nano-technology, Humanities, Genome-Wide Association Study

وصف الملف: application/pdf; text; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f012f03b11f140f43b323ba146a92103

المؤلفون: Olufunmilayo I. Olopade, Darcy L. Thull, Raanan Berger, Mary Beth Terry, Michel Longy, Timothy R. Rebbeck, Gord Glendon, Min Hyuk Lee, Javier Benitez, Mark T. Rogers, Mark H. Greene, Dezheng Huo, Adalgeir Arason, Carole Brewer, Siranoush Manoukian, Jackie Cook, Louise Izatt, Yuan Chun Ding, Dieter Niederacher, Nadine Tung, Sophie Giraud, Henriette Roed Nielsen, Antonis C. Antoniou, Bernhard H. F. Weber, Bruno Buecher, Goska Leslie, Amanda E. Toland, Anna Marie Mulligan, Ane Y. Schmidt, Noralane M. Lindor, Véronique Mari, Tara M. Friebel, Cecilia M. Dorfling, Ugnius Mickys, Lenka Foretova, Andrew K. Godwin, Bernd Dworniczak, Tsun Leung Chan, Monica Barile, Angela R. Solano, Susan J. Ramus, Laurence Faivre, Susan L. Neuhausen, Ana Peixoto, Julio Abugattas, Mattias Van Heetvelde, Jacqueline Eason, Muhammad Usman Rashid, Barbara Pasini, Henrique de Campos Reis Galvão, Heli Nevanlinna, Lucy Side, Nina Peruga, Marco Montagna, Amie Blanco, Alison H. Trainer, Cristina Zanzottera, Arjen R. Mensenkamp, Douglas F. Easton, Inge Søkilde Pedersen, Kenneth Offit, Judy Garber, Sook-Yee Yoon, Uffe Birk Jensen, Irene Konstantopoulou, Barbara Wappenschmidt, Stefanie Engert, Robert L. Nussbaum, Kai-ren Ong, Ros Eeles, Marinus J. Blok, Yael Laitman, Alex Teulé, Marion Gauthier-Villars, Daniel Barrowdale, Mads Thomassen, Torben A Kruse, Hanne Meijers-Heijboer, Abigail Thomas, Susan M. Domchek, Jacques Simard, Jamal Zidan, Paul A. James, Rob B. van der Luijt, Nina Ditsch, Annette Lee, Joseph Vijai, Kathleen R. Blazer, Elizabeth J. van Rensburg, János Papp, Lizet E. van der Kolk, Eitan Friedman, Pascal Pujol, Johanna Rantala, Patricia A. Ganz, Esther M. John, Conxi Lázaro, Jacek Gronwald, Paul Gesta, Jan Hauke, Simona Agata, Leo Auerbach, Paolo Radice, Fabienne Prieur, Beth Y. Karlan, Antoine De Pauw, Paolo Peterlongo, Sandrine M. Caputo, Sue K. Park, Marc Tischkowitz, Jocelyne Chiquette, Karin Kast, Annemieke H. van der Hout, Eric Hahnen, Grzegorz Sukiennicki, Debra Frost, Noura Mebirouk, Angel Izquierdo, Alex Henderson, Carolina Velázquez, Raymonda Varon-Mateeva, J. Margriet Collée, Soo-Hwang Teo, Esther Pohl, Rosa B. Barkardottir, Rita K. Schmutzler, Kim De Leeneer, Andrea Gehrig, D. Gareth Evans, Jeffrey N. Weitzel, Katherine L. Nathanson, Lesley McGuffog, Christoph Engel, Amanda B. Spurdle, Austin Miller, Edith Olah, Hans Ehrencrona, Almuth Caliebe, Zoltan Matrai, Ian G. Campbell, Christina G. Selkirk, Kirsten B. Moysich, Ella Asseryanis, Wendy K. Chung, Michael T. Parsons, Shan Wang-Gohrke, Thomas P. Slavin, Karen H. Lu, Gustavo C. Rodriguez, Julian Adlard, Christian F. Singer, Lesley Andrews, Jacopo Azzollini, Peter J. Hulick, Judith Balmaña, Anne-Marie Gerdes, Frans B. L. Hogervorst, Capucine Delnatte, Miguel de la Hoya, Katarzyna Kaczmarek, Angelica M. Gutierrez-Barrera, Claudine Isaacs, Lisa Walker, Doris Steinemann, Huu Phuc Nguyen, Anna von Wachenfeldt, Saundra S. Buys, Fabienne Lesueur, Kristin K. Zorn, Kerstin Rhiem, Manuel R. Teixeira, Linda Steele, Ava Kwong, Alfons Meindl, Evgeny N. Imyanitov, Giuseppe Giannini, Banu Arun, Vilius Rudaitis, Norbert Arnold, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Jacob Korach, Ana Vega, Nisha Pradhan, David E. Goldgar, Anna Jakubowska, Angela R. Bradbury, Cora M. Aalfs, kConFab Investigators, Lídia Feliubadaló, Annelie Liljegren, Ana Osorio, Sabine Topka, Julia Hentschel, Katie Snape, Fergus J. Couch, Ute Hamann, Anna Öfverholm, Edenir Inêz Palmero, Jacob Musinsky, Adriana Lasa, Silvia Tognazzo, Payal D. Shah, Drakoulis Yannoukakos, Valérie Bonadona, Laura Papi, Georgia Chenevix-Trench, Christi J. van Asperen, Hagay Sobol, Kristiina Aittomäki, Cristina Martínez-Bouzas, Jan Lubinski, Csilla Szabo, Joanne Ngeow, Hebon, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Christian Sutter, Yen Y. Tan, Trinidad Caldés, Rosemarie Davidson, Jenny Lester, Andreas Berger, Mark E. Robson, Jennifer T. Loud, Cynthia Villarreal-Garza, Eva Machackova, Leigha Senter, Irene L. Andrulis, Sandra Fert Ferrer, Diana Torres, Sung-Won Kim, Karolina Prajzendanc, Christine Lasset, Embrace, Jeffrey M. Fowler, Bernardo Bonanni, Bent Ejlertsen, Liliana Varesco, Orland Diez, Kathleen Claes

المساهمون: Leslie, Goska [0000-0001-5756-6222], Easton, Douglas [0000-0003-2444-3247], Lee, Andrew [0000-0003-0677-0252], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Centre Léon Bérard [Lyon], Institut Curie [Paris], CRLCC René Gauducheau, Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Métropole Savoie [Chambéry], Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme de génétique moléculaire des cancers d'Aquitaine, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), CHU Saint-Etienne, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Clinical Genetics, Human genetics, CCA - Cancer biology and immunology, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Fundações de Amparo à Pesquisa (Brasil), Research Foundation - Flanders, University of Helsinki, Sigrid Juselius Foundation, Dutch Cancer Society, Netherlands Organization for Scientific Research, Asociación Española Contra el Cáncer, Generalitat de Catalunya, Ministero della Salute, Istituto Oncologico Veneto, University of Tasmania, Australian Cancer Research Foundation, Ministry of Health and Welfare (South Korea), Charles University (Czech Republic), National Research Foundation Singapore, Russian Foundation for Basic Research, Istituto Toscano Tumori, Israel Cancer Association USA, Swedish Cancer Society, Foundation for Women's Cancer, University of Pittsburgh, Cancer Australia, American Cancer Society, The Ohio State University, National Institutes of Health (US), Cancer Research UK, European Commission, Canadian Institutes of Health Research, Department of Trade and Industry (UK), Susan G. Komen Foundation, Breast Cancer Research Foundation, Genome Canada, National Cancer Institute (US), Research Council of Lithuania, Cancer Association of South Africa, Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Ministerio de Sanidad y Política Social (España), Associazione Italiana per la Ricerca sul Cancro, Fondazione Italiana per la Ricerca sul Cancro, Ministero dell'Istruzione, dell'Università e della Ricerca, Institut Pasteur, Fondazione Cenci Bolognetti, Greek Government, Pontificia Universidad Javeriana, Royal Marsden NHS Foundation Trust, Kansas State University, Fundación Mutua Madrileña, Ligue Nationale contre le Cancer (France), Georgetown University, Human Genetics, Other departments, ARD - Amsterdam Reproduction and Development

المصدر: Human Mutation
Human Mutation, Wiley, 2018, 39 (5), pp.593-620. ⟨10.1002/humu.23406⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caldes, T, Caliebe, A, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Chung, W K, Claes, K B M, Collée, J M, Cook, J, Davidson, R, de la Hoya, M, De Leeneer, K, de Pauw, A, Delnatte, C, Diez, O, Ding, Y C, Ditsch, N, Domchek, S M, Dorfling, C M, Velazquez, C, Dworniczak, B, Eason, J, Easton, D F, Eeles, R, Ehrencrona, H, Ejlertsen, B, EMBRACE, Engel, C, Engert, S, Evans, D G, Faivre, L, Feliubadaló, L, Ferrer, S F, Foretova, L, Fowler, J, Frost, D, Galvão, H C R, Ganz, P A, Garber, J, Gauthier-Villars, M, Gehrig, A, GEMO Study Collaborators, Gerdes, A-M, Gesta, P, Giannini, G, Giraud, S, Glendon, G, Godwin, A K, Greene, M H, Gronwald, J, Gutierrez-Barrera, A, Hahnen, E, Hauke, J, HEBON, Henderson, A, Hentschel, J, Hogervorst, F B L, Honisch, E, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jensen, U B, John, E M, Vijai, J, Kaczmarek, K, Karlan, B Y, Kast, K, KConFab Investigators, Kim, S-W, Konstantopoulou, I, Korach, J, Laitman, Y, Lasa, A, Lasset, C, Lázaro, C, Lee, A, Lee, M H, Lester, J, Lesueur, F, Liljegren, A, Lindor, N M, Longy, M, Loud, J T, Lu, K H, Lubinski, J, Machackova, E, Manoukian, S, Mari, V, Martínez-Bouzas, C, Matrai, Z, Mebirouk, N, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A, Mickys, U, Miller, A, Montagna, M, Moysich, K B, Mulligan, A M, Musinsky, J, Neuhausen, S L, Nevanlinna, H, Ngeow, J, Nguyen, H P, Niederacher, D, Nielsen, H R, Nielsen, F C, Nussbaum, R L, Offit, K, Öfverholm, A, Ong, K-R, Osorio, A, Papi, L, Papp, J, Pasini, B, Pedersen, I S, Peixoto, A, Peruga, N, Peterlongo, P, Pohl, E, Pradhan, N, Prajzendanc, K, Prieur, F, Pujol, P, Radice, P, Ramus, S J, Rantala, J, Rashid, M U, Rhiem, K, Robson, M, Rodriguez, G C, Rogers, M T, Rudaitis, V, Schmidt, A Y, Schmutzler, R K, Senter, L, Shah, P D, Sharma, P, Side, L E, Simard, J, Singer, C F, Skytte, A-B, Slavin, T P, Snape, K, Sobol, H, Southey, M C, Steele, L, Steinemann, D, Sukiennicki, G, Sutter, C, Szabo, C I, Tan, Y Y, Teixeira, M R, Terry, M B, Teulé, A, Thomas, A, Thull, D L, Tischkowitz, M, Tognazzo, S, Toland, A E, Topka, S, Trainer, A H, Tung, N, van Asperen, C J, van der Hout, A H, van der Kolk, L E, van der Luijt, R B, Van Heetvelde, M, Varesco, L, Varon-Mateeva, R, Vega, A, Villarreal-Garza, C, von Wachenfeldt, A, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weber, B H F, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zidan, J, Zorn, K K, Selkirk, C G H, Hulick, P J, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C & Nathanson, K L 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
Jensen, U B 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. ' . https://doi.org/10.1002/humu.23406
Human Mutation, 39, 5, pp. 593-620
Human Mutation, 39(5), 593-620. Wiley
Human Mutation: Variation, Informatics and Disease, 39(5), 593-620
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Gerdes, A-M, Nielsen, H R, Skytte, A-B & EMBRACE 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Mutation, 39, 593-620
Human Mutation, 39(5), 593-620. Wiley-Liss Inc.
Digital.CSIC. Repositorio Institucional del CSIC
EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
EMBRACE 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
Human mutation, 39(5), 593-620. Wiley-Liss Inc.
The CIMBA Consortium & Evans, D G 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation . https://doi.org/10.1002/humu.23406
Rebbeck, TR; Friebel, TM; Friedman, E; Hamann, U; Huo, D; Kwong, A; et al.(2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39(5), 593-620. doi: 10.1002/humu.23406. UCLA: Retrieved from: http://www.escholarship.org/uc/item/3q49q09h

مصطلحات موضوعية: 0301 basic medicine, HEREDITARY BREAST, Mutation rate, Internationality, endocrine system diseases, Càncer d'ovari, Gene mutation, medicine.disease_cause, geography, Race (biology), 0302 clinical medicine, Breast cancer, FOUNDER MUTATIONS, Databases, Genetic, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], skin and connective tissue diseases, Genetics (clinical), Genetics, Mutation, medicine.diagnostic_test, Geography, RISK HISPANIC FAMILIES, BRCA1 Protein, 185DELAG MUTATION, GERMLINE MUTATIONS, 3. Good health, PROSTATE-CANCER, ovarian cancer, 030220 oncology & carcinogenesis, Medical genetics, ethnicity, BREAST-CANCER PATIENTS, BRCA1, BRCA2, breast cancer, mutation, medicine.medical_specialty, Biology, OVARIAN-CANCER, Article, Càncer de mama, BRCA2 Protein, Family, Humans, 03 medical and health sciences, Databases, Germline mutation, Genetic, Ovarian cancer, medicine, ddc:610, Genotyping, Genetic testing, PHENOTYPE ANALYSIS, BRCA1, BRCA2, Breast Cancer, HAPLOTYPE ANALYSIS, Mutació (Biologia), Mutation (Biology), 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab526fd54e17412cf2be87645b672d04
https://www.repository.cam.ac.uk/handle/1810/274227

المؤلفون: Marco Montagna, Bruno Buecher, Goska Leslie, Daniel Barrowdale, Anita Bane, Louise Izatt, Eitan Friedman, Yosr Hamdi, Kenneth Offit, Klaartje van Engelen, Soo Hwang Teo, Frans B. L. Hogervorst, Conxi Lázaro, Sylvie Mazoyer, Diana Eccles, Yuan Chun Ding, Laura Papi, Georgia Chenevix-Trench, Katarzyna Kaczmarek, Laima Tihomirova, Jacek Gronwald, Jocelyne Chiquette, Patricia A. Ganz, Thomas P. Slavin, Kathleen Claes, Paolo Radice, Elizabeth J. van Rensburg, Adalgeir Arason, Lenka Foretova, Milena Mariani, Johanna Rantala, Pascaline Berthet, Evgeny N. Imyanitov, Claudine Isaacs, Esther M. John, Maite Laurent, Irene L. Andrulis, Juul T. Wijnen, Paolo Peterlongo, Susan M. Domchek, Banu Arun, Amanda E. Toland, Anna Marie Mulligan, Penny Soucy, Kristiina Aittomäki, Orland Diez, Heli Nevanlinna, Anne-Marie Gerdes, Austin Miller, Olufunmilayo I. Olopade, Raymonda Varon-Mateeva, Alfons Meindl, Cecilia M. Dorfling, Niklas Loman, Paul A. James, Susan L. Neuhausen, Muy Kheng Tea, Inge Søkilde Pedersen, Arnaud Droit, D. Gareth Evans, Mark E. Robson, Jennifer T. Loud, Jan C. Oosterwijk, Judy Garber, Douglas F. Easton, Jacques Simard, Mark H. Greene, Pamela S. Ganschow, Edith Olah, Audrey Lemaçon, Norbert Arnold, Catherine M. Phelan, Gad Rennert, Judy Kirk, Johanna Sokolowska, Tomi Pastinen, Robert L. Nussbaum, Simon A. Gayther, Karoline B. Kuchenbaeker, Mads Thomassen, Ros Eeles, Riccardo Dolcetti, Hanne Meijers-Heijboer, Marc Tischkowitz, George Fountzilas, Laure Barjhoux, Kristie Bobolis, Christoph Engel, Bernardo Bonanni, Sue K. Park, Beth Y. Karlan, Nicolas Sevenet, Bent Ejlertsen, Wendy K. Chung, Timothy R. Rebbeck, Amanda B. Spurdle, Peter J. Hulick, Mary B. Daly, Yen Y. Tan, Annelie Liljegren, Carolien M. Kets, Miguel de la Hoya, Gord Glendon, Mieke Kriege, Rita K. Schmutzler, Manuel R. Teixeira, Christine Rappaport-Fuerhauser, Pedro Pérez Segura, William D. Foulkes, Rosemarie Davidson, Steven N. Hart, Javier Benitez, Jenny Lester, Melissa C. Southey, Ramunas Janavicius, Uffe Birk Jensen, Zakaria Einbeigi, Christian F. Singer, Jacopo Azzollini, Alex Teulé, David E. Goldgar, Ans M.W. van den Ouweland, Anna Jakubowska, Angela R. Bradbury, Dominique Stoppa-Lyonnet, Carole Brewer, Zsofia K. Stadler, Nadine Tung, Eric Hahnen, Vijai Joseph, Grzegorz Sukiennicki, Siranoush Manoukian, Debra Frost, Maria A. Caligo, Andrew K. Godwin, Christian Sutter, Bernard Peissel, Andrea L. Richardson, Kim De Leeneer, Antonis C. Antoniou, Florentia Fostira, Lesley McGuffog, Matti A. Rookus, Mary Beth Terry, Saundra S. Buys, Fabienne Lesueur, Gustavo C. Rodriguez, Julian Adlard, Barbara Wappenschmidt, Marinus J. Blok, Yael Laitman, Rob B. van der Luijt, Thomas Hansen, Francesca Damiola, Katherine L. Nathanson, Silje Nord, Kai Ren Ong, Ana Osorio, Katie Snape, Fergus J. Couch, John L. Hays, Walter Just, Ute Hamann, Silvia Tognazzo, Payal D. Shah, Valérie Bonadona, Ida Marie Heeholm Sonderstrup, Lídia Feliubadaló

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Research Council, Cancer Research UK (Reino Unido), Post-cancer GWAS Initiative, United States Department of Defense, Research Council of Lithuania, Asociación Española Contra el Cáncer, Red Temática de Investigación Cooperativa en Cáncer (España), Fondation ARC pour la recherche sur le cancer, Canadian Institutes of Health Research, Ministère de Économie, Innovation et Exportation (Canadá), University of Kansas. Cancer Center (Estados Unidos), Deutsche Krebshilfe, Leipzig Research Centre for Civilization Diseases, Non-therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI), Instituto de Salud Carlos III, Finlands Akademi (Finlandia), Dutch Cancer Society (Holanda), Dutch Research Council (Holanda), Pink Ribbons Project, Biobanking and BioMolecular resources Research Infrastructure (Países Bajos), Transcan Grant JTC Cancer, Hungarian Research Grants, Government of Catalonia (España), Ministry of Health and Welfare (Corea del Sur), United States of Department of Health & Human Services, State Budget of the Czech Republic (RECAMO), Charles University (República Checa), Westat (Estados Unidos), Russian Foundation for Basic Research, GOG Foundation. Gynecologic Oncology Group, Italian Association for Cancer Research, Clinical Genetics, CCA - Cancer biology and immunology, Human genetics, Epidemiology and Data Science, Human Genetics, Leslie, Goska [0000-0001-5756-6222], Tischkowitz, Marc [0000-0002-7880-0628], Easton, Douglas [0000-0003-2444-3247], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Medicum, Clinicum, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON)

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Breast Cancer Research and Treatment, 161(1), 117-134. Springer, Cham
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Fostira, F, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. Springer New York
Breast Cancer Research and Treatment, 161, 1, pp. 117-134
Breast Cancer Research and Treatment, 161, 117-134
Hamdi, Y; Soucy, P; Kuchenbaeker, KB; Pastinen, T; Droit, A; Lemacon, A; et al.(2017). Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. BREAST CANCER RESEARCH AND TREATMENT, 161(1), 117-134. doi: 10.1007/s10549-016-4018-2. UCLA: Retrieved from: http://www.escholarship.org/uc/item/03k1w9cm
Breast Cancer Research and Treatment, 161(1), 117-134
Breast Cancer Research and Treatment, 161(1), 117. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Foretova, L, Jensen, U B, Pedersen, I S & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117–134 . https://doi.org/10.1007/s10549-016-4018-2
Breast cancer research and treatment, 161(1), 117-134. Springer New York
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Azzollini, J, Arun, B K, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, EMBRACE, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Fostira, F, Gerdes, A-M, Easton, D F, Antoniou, A C & Simard, J 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
kConFab Investigators, HEBON, GEMO Study Collaborators & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
BREAST CANCER RESEARCH AND TREATMENT
Repisalud
Instituto de Salud Carlos III (ISCIII)
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benitez, J, Berthet, P, Blok, M J, Bobolis, K, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, De la Hoya, M, De Leeneer, K, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadalo, L, Meijers-Heijboer, H E J, Oosterwijk, J C, van Engelen, K, EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment
Hamdi, Y, Soucy, P, Kuchenbaeker, K B, Pastinen, T, Droit, A, Lemaçon, A, Adlard, J, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Azzollini, J, Bane, A, Barjhoux, L, Barrowdale, D, Benítez, J, Berthet, P, Blok, M J, Bobolis, K A, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S, Caligo, M A, Chiquette, J, Chung, W K, Claes, K B M, Daly, M B, Damiola, F, Davidson, R, de la Hoya, M, De Leeneer, K, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Eccles, D, Eeles, R, Einbeigi, Z, Ejlertsen, B, Engel, C, Gareth Evans, D, Feliubadaló, L, Foretova, L, Gerdes, A-M, Thomassen, M & EMBRACE 2017, ' Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression : identification of a modifier of breast cancer risk at locus 11q22.3 ', Breast Cancer Research and Treatment, vol. 161, no. 1, pp. 117-134 . https://doi.org/10.1007/s10549-016-4018-2
Breast Cancer Research and Treatment, 161(1), 117-134. SPRINGER

مصطلحات موضوعية: 0301 basic medicine, Genetic modifiers, Cancer Research, Epidemiology, Genes, BRCA2, BRCA1 and BRCA2 mutation carriers, Genes, BRCA1, Gene Expression, Gene mutation, DISEASE, Breast cancer, 3123 Gynaecology and paediatrics, Medicine and Health Sciences, INVESTIGATORS, mutation carriers, skin and connective tissue diseases, Genetics, 1184 Genetics, developmental biology, physiology, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Oncology, Female, Differential allelic expression, Risk, Heterozygote, 3122 Cancers, Quantitative Trait Loci, NPAT, Single-nucleotide polymorphism, Locus (genetics), Breast Neoplasms, Quantitative trait locus, Biology, OVARIAN-CANCER, 03 medical and health sciences, CYCLIN E-CDK2, SDG 3 - Good Health and Well-being, Journal Article, medicine, Genetic predisposition, Genetic susceptibility, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Allele, BRCA1 and BRCA2, Alleles, Genetic association, HUMAN-CELLS, Chromosomes, Human, Pair 11, CONSORTIUM, Genetic Variation, DNA, medicine.disease, 030104 developmental biology, Mutation, Cis-regulatory variants, 3111 Biomedicine

وصف الملف: application/pdf; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba8cf2d9bb045cb1dbafc6fe95cfcd7b
https://hdl.handle.net/20.500.12530/33541

المؤلفون: Ignacio Blanco, Heli Nevanlinna, Norbert Arnold, Gad Rennert, Catherine Noguès, Javier Benitez, Etienne Rouleau, Embrace, Gemo, Irene Konstantopoulou, David J. Hughes, Flavio Lejbkowicz, kConFab, Rita K. Schmutzler, Mercedes Durán, Carole Brewer, Beatrix Versmold, Georgia Chenevix-Trench, Paolo Radice, Trevor Cole, Alfons Meindl, Ivan Bièche, Rosalind A. Eeles, Isabelle Coupier, Olga M. Sinilnikova, Hebon, A L Laborde, Florence Coulet, Kristiina Aittomäki, M. Cook, Ana Osorio, D. G. Evans, Dieter Schaefer, S. Giraud, Craig Luccarini, Jacques Simard, Hans J. J. P. Gille, Fiona Lalloo, Liliane Demange, Xiaoqing Chen, Florent Soubrier, Susan Peock, Amanda B. Spurdle, Rosemarie Davidson, Lesley McGuffog, T. A. M. van Os, Henry T. Lynch, Jacqueline Cook, Ursula G. Froster, Douglas F. Easton, Sara Dishon, Siranoush Manoukian, Christian Sutter, Gabriella Pichert, Frans B. L. Hogervorst, Mélanie Léoné, Jonathan Beesley, Katherine L. Nathanson, Rosette Lidereau, Sue Healey, Daniel Sinnett, Gc-Hboc, Christoph Engel, Joan Paterson, Chrystelle Colas, Mark H. Greene, U Hamann, Dominique Stoppa-Lyonnet, Ocgn, Irene L. Andrulis, Helmut Deissler, Jennifer T. Loud, A C Antoniou, Susan M. Domchek

المساهمون: Universitat de Barcelona, Human genetics, CCA - Oncogenesis

المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Group

مصطلحات موضوعية: Oncology, Cancer Research, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, polymorphism, 0302 clinical medicine, Breast cancer, Risk Factors, Genotype, TP53, skin and connective tissue diseases, risk, 0303 health sciences, Nucleotides, Hazard ratio, Proto-Oncogene Proteins c-mdm2, 3. Good health, 030220 oncology & carcinogenesis, Female, Breast disease, medicine.medical_specialty, Heterozygote, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Càncer de mama, 03 medical and health sciences, breast cancer, MDM2, BRCA1/2, Internal medicine, medicine, Genetics, SNP, Humans, Genetic Predisposition to Disease, neoplasms, 030304 developmental biology, Proportional hazards model, Mutació (Biologia), Cancer, Genetics and Genomics, Mutation (Biology), medicine.disease, Genes, p53, Nucleòtids, Mutation, Cancer research, Genètica

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2176476f08ccdf42bfc7391bc1cac4
https://doi.org/10.1038/sj.bjc.6605279