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Articles, 17 registres trobats
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1.
9 p, 406.9 KB Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer / Fernández-Castillejo, Sara (Universitat Rovira i Virgili) ; Roig, Bàrbara (Universitat Rovira i Virgili) ; Melé, Mireia (Universitat Rovira i Virgili) ; Serrano, Sara (Universitat Rovira i Virgili) ; Salvat, Mònica (Universitat Rovira i Virgili) ; Querol, Montserrat (Universitat Rovira i Virgili) ; Brunet, Joan (Institut d'Investigació Biomèdica de Bellvitge) ; Pineda, Marta (Institut d'Investigació Biomèdica de Bellvitge) ; Cisneros, Adela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Parada, David (Institut d'Investigació Sanitària Pere Virgili) ; Badia, Joan (Universitat Rovira i Virgili) ; Borràs, Joan (Universitat Rovira i Virgili) ; Rodríguez-Balada, Marta (Universitat Rovira i Virgili) ; Gumà, Josep (Universitat Rovira i Virgili)
Background: Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. [...]
2023 - 10.1136/jmg-2023-109389
Journal of medical genetics, Vol. 61, Num. 1 (december 2023) , p. 69-77  
2.
11 p, 1.1 MB Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients / Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ; Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ; Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ; Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ; Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ; Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ; Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ; Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ; Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Alonso, Miguel Ángel (Virgen del Camino Hospital) ; Andrés, Raquel (0000-0002-0762-6415) ; Arévalo, Sara (Hospital of Donostia) ; Arias, Maria del Mar (Virgen del Camino Hospital) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Beristain, Elena (Txagorritxu Hospital) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; Boronat, Mauro (Hospital of Gran Canaria) ; Brunet, Joan (Institut Català d'Oncologia) ; Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Díaz, Arantza (Móstoles Hospital) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Barcina, María Jesús (Hospital de Basurto (Bilbao, Biscaia)) ; González, Margarita (Can Misses Hospital) ; Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Hernán, Imma (Terrassa Hospital) ; Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ; Hernando, Susana (Alcorcón Hospital) ; Lacambra, Carmen (Severo Ochoa Hospital) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Lastra, Enrique (Hospital of Burgos) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; del Rosario Marín, Maria (Puerta del Mar Hospital) ; Marrupe, David (Móstoles Hospital) ; Martínez, Francisco (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ; Martínez, Victor (La Paz Hospital) ; Martorell, Loreto (Sant Joan de Déu Hospital) ; Orera, Maria (Gregorio Marañón Hospital) ; Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Pérez, Pedro (San Carlos Hospital) ; Pineda, Marta (Institut Català d'Oncologia) ; Plasencia, Ana Maria (Asturias Central Hospital) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Robles, Luis ; Rodà, Diana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Rodríguez, Nuria (La Paz Hospital) ; Rosell Andreo, Jordi (Son Dureta Hospital) ; Sáez, Raquel (Hospital of Donostia) ; Salvat, Monica (Sant Joan de Reus) ; Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Santana, Alfredo (Hospital of Gran Canaria) ; Soto, Jose Luis (General Hospital of Elche) ; Toll, Agustin (Del Mar Hospital) ; Tuneu, Anna (Hospital of Donostia) ; Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85  
3.
12 p, 1.7 MB Role of POLE and POLD1 in familial cancer / Mur, Pilar (Centro de Investigación Biomédica en Red de Cáncer) ; García-Mulero, Sandra (Hospital Universitari de Bellvitge) ; del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Magraner-Pardo, Lorena (Spanish National Cancer Research Center (CNIO)) ; Vidal, August (Hospital Universitari de Bellvitge) ; Pineda, Marta (Centro de Investigación Biomédica en Red de Cáncer) ; Cinnirella, Giacomo (Hospital Universitari de Bellvitge) ; Martín-Ramos, Edgar (Universitat de Barcelona) ; Pons, Tirso (Consell Superior d'Investigacions Científiques) ; López-Doriga, Adriana (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Belhadj, Sami (Hospital Universitari de Bellvitge) ; Feliubadaló, Lidia (Centro de Investigación Biomédica en Red de Cáncer) ; Munoz-Torres, Pau M. (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Centro de Investigación Biomédica en Red de Cáncer) ; Grau, Elia (Hospital Universitari de Bellvitge) ; Darder, Esther (Institut Català d'Oncologia) ; Llort, Gemma (Consorci Sanitari de Terrassa) ; Sanz, Judit (Althaia Xarxa Assistencial Universitària de Manresa) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Brunet, Joan (Institut Català d'Oncologia) ; Moreno, Víctor (Universitat de Barcelona) ; Piulats, Josep M. (Hospital Universitari de Bellvitge) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Sanz-Pamplona, Rebeca (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Aligué, Rosa (Universitat de Barcelona) ; Capellá, G. (Gabriel) (Centro de Investigación Biomédica en Red de Cáncer) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ; Valle, Laura (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly specific associated mutational signatures. [...]
2020 - 10.1038/s41436-020-0922-2
Genetics in medicine, Vol. 22 Núm. 12 (december 2020) , p. 2089-2100  
4.
25 p, 1.8 MB Comprehensive constitutional genetic and epigenetic characterization of lynch-like individuals / Dámaso, Estela (Hospital Universitari de Bellvitge) ; González-Acosta, Maribel (Hospital Universitari de Bellvitge) ; Vargas-Parra, Gardenia (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Hospital Universitari de Bellvitge) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Tuset, N. (Hospital Arnau de Vilanova (València)) ; Thompson, B.A. (University of Melbourne) ; Marín, Fátima (Hospital Universitari de Bellvitge) ; Fernández, Anna (Hospital Universitari de Bellvitge) ; Gómez, Carolina (Hospital Universitari de Bellvitge) ; Velasco, À. (Institut d'Investigació Biomèdica (Girona)) ; Solanes, Ares (Hospital Universitari de Bellvitge) ; Iglesias, Sílvia (Hospital Universitari de Bellvitge) ; Urgel, G. (Hospital Arnau de Vilanova (València)) ; López, Consol (Institut d'Investigació Biomèdica Sant Pau) ; Valle, Jesus Del (Hospital Universitari de Bellvitge) ; Campos, Olga (Hospital Universitari de Bellvitge) ; Santacana, M. (Institut de Recerca Biomèdica de Lleida (IRB Lleida)) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ; Valle, Laura (Hospital Universitari de Bellvitge) ; Brunet, Joan (Hospital Universitari de Bellvitge) ; Pineda, Marta (Hospital Universitari de Bellvitge) ; Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ; Universitat Autònoma de Barcelona
The causal mechanism for cancer predisposition in Lynch-like syndrome (LLS) remains unknown. Our aim was to elucidate the constitutional basis of mismatch repair (MMR) deficiency in LLS patients throughout a comprehensive (epi)genetic analysis. [...]
2020 - 10.3390/cancers12071799
Cancers, Vol. 12 Núm. 7 (july 2020) , p. 1-32  
5.
18 p, 1.0 MB Assessing Associations between the AURKA-HMMR-TPX2-TUBG1 Functional Module and Breast Cancer Risk in BRCA1/2 Mutation Carriers / Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ; Kuchenbaecker, Karoline (University of Cambridge) ; Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge) ; Wang, Xianshu (Mayo Clinic, Rochester, United States of America) ; Barrowdale, Daniel (University of Cambridge) ; de Garibay, Gorka Ruiz (Institut d'Investigació Biomèdica de Bellvitge) ; Librado, Pablo (Universitat de Barcelona) ; Sánchez-Gracia, Alejandro (Universitat de Barcelona) ; Rozas, Julio (Universitat de Barcelona) ; Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge) ; McGuffog, Lesley (University of Cambridge) ; Pankratz, Vernon S. (Mayo Clinic, Rochester, Minnesota) ; Islam, Abul (University of Dhaka) ; Mateo, Francesca (Institut d'Investigació Biomèdica de Bellvitge) ; Berenguer-Llergo, Antoni (Institut d'Investigació Biomèdica de Bellvitge) ; Petit Montserrat, Anna (Institut d'Investigació Biomèdica de Bellvitge) ; Català, Isabel (Institut d'Investigació Biomèdica de Bellvitge) ; Brunet, Joan (Institut d'Investigació Biomèdica de Girona) ; Feliubadaló, Lidia (Institut d'Investigació Biomèdica de Bellvitge) ; Tornero, Eva (Institut d'Investigació Biomèdica de Bellvitge) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Aittomäki, Kristiina (Helsinki University Central Hospital) ; Arun, Banu K. (University of Texas) ; Toland, Amanda E. (The Ohio State University, Columbus) ; Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ; Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ; Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Los Angeles) ; Greene, Mark H. (National Cancer Institute, Maryland, Rockville) ; Mai, Phuong L. (National Cancer Institute, Maryland, Rockville) ; Nussbaum, Robert L. (University of California San Francisco, San Francisco) ; Andrulis, Irene L. (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ; Domchek, Susan M. (The University of Pennsylvania School of Medicine, Philadelphia) ; Nathanson, Katherine L. (The University of Pennsylvania School of Medicine, Philadelphia) ; Rebbeck, Timothy R. (Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Barkardottir, Rosa B. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Jakubowska, Anna (Pomeranian Medical University, Szczecin) ; Lubinski, Jan (Pomeranian Medical University, Szczecin) ; Durda, Katarzyna (Pomeranian Medical University, Szczecin) ; Jaworska-Bieniek, Katarzyna (Pomeranian Medical University, Szczecin) ; Claes, Kathleen (Ghent University, Ghent) ; Van Maerken, Tom (Ghent University, Ghent) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Hansen, Thomas V. (Copenhagen University Hospital) ; Jønson, Lars (Copenhagen University Hospital) ; Gerdes, Anne-Marie (Copenhagen University Hospital) ; Ejlertsen, Bent (Copenhagen University Hospital) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Dunning, Alison M. (University of Cambridge) ; Oliver, Clare (University of Cambridge) ; Fineberg, Elena (University of Cambridge) ; Cook, Margaret (University of Cambridge) ; Peock, Susan (University of Cambridge) ; McCann, Emma (Glan Clwyd Hospital, Rhyl) ; Murray, Alex (Singleton Hospital, Swansea) ; Jacobs, Chris (Guy's and St. Thomas' National Health Service, London) ; Pichert, Gabriella (Guy's and St. Thomas' National Health Service, London) ; Lalloo, Fiona (Central Manchester University Hospitals National Health Service, Manchester) ; Chu, Carol (Yorkshire Regional Genetics Service, Leeds) ; Dorkins, Huw (Kennedy-Galton Centre, Harrow) ; Paterson, Joan (Addenbrookes Hospital (Cambridge, Regne Unit)) ; Ong, Kai-Ren (Birmingham Women's Hospital) ; Teixeira, Manuel R. (Universidade do Porto) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; van der Hout, Annemarie H. (University of Groningen) ; Seynaeve, Caroline (Erasmus University Medical Center, Rotterdam) ; van der Luijt, Rob B. (University Medical Center Utrecht, Utrecht) ; Ligtenberg, Marjolijn J. L. (Radboud university medical center, Nijmegen) ; Devilee, Peter (Leiden University Medical Center, Leiden) ; Wijnen, Juul T. (Leiden University Medical Center, Leiden) ; Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Meijers-Heijboer, Hanne E. J. (Vrije Universiteit, Amsterdam) ; Blok, Marinus J. (Maastricht University Medical Center) ; van den Ouweland, Ans M. W. (Erasmus University Medical Center, Rotterdam) ; Aalfs, Cora M. (Department of Clinical Genetics, Amsterdam) ; Rodriguez, Gustavo C. (University of Chicago) ; Phillips, Kelly-Anne A. (Peter MacCallum Cancer Centre, East Melbourne) ; Piedmonte, Marion (Roswell Park Cancer Institute, Buffalo, New York) ; Nerenstone, Stacy R. (Hartford Hospital/Helen and Harry Gray Cancer Center) ; Bae-Jump, Victoria L. (University of North Carolina) ; O'Malley, David M. (Ohio State University, Hilliard) ; Ratner, Elena S. (Yale University School of Medicine) ; Schmutzler, Rita K. (Uniklinik Köln (Colònia, Alemanya)) ; Wappenschmidt, Barbara (Uniklinik Köln (Colònia, Alemanya)) ; Rhiem, Kerstin (University Hospital of Cologne, Cologne, Germany) ; Engel, Christoph (University of Leipzig) ; Meindl, Alfons (Technical University Munich) ; Ditsch, Nina (Ludwig-Maximilian University Munich) ; Arnold, Norbert (Kiel University Medical Center Schleswig-Holstein) ; Plendl, Hansjoerg J. (Kiel University Medical Center Schleswig-Holstein) ; Niederacher, Dieter (University Hospital of Düsseldorf (Alemanya)) ; Sutter, Christian (Heidelberg University Hospital (Alemanya)) ; Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya)) ; Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover) ; Preisler-Adams, Sabine (University of Münster) ; Kast, Karin (Technical University Dresden) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin) ; Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ; Bojesen, Anders (Vejle Hospital, Vejle) ; Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ; Sunde, Lone (Aarhus University Hospital (Aarhus, Dinamarca)) ; Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Kruse, Torben A. (Odense University Hospital (Dinamarca)) ; Foretova, Lenka (Masaryk Memorial Cancer Institute (Brno, República Txeca)) ; Peterlongo, Paolo (Fondazione Istituto di Oncologia MolecolarE, Milan) ; Bernard, Loris (Istituto Europeo di Oncologia, Milan) ; Peissel, Bernard (Fondazione Istituto Nazionale Tumori, Milan) ; Scuvera, Giulietta (Fondazione Istituto Nazionale Tumori, Milan) ; Manoukian, Siranoush (Fondazione Istituto Nazionale Tumori, Milan) ; Radice, Paolo (Fondazione Istituto Nazionale Tumori, Milan) ; Ottini, Laura ("Sapienza" University, Rome) ; Montagna, Marco (Istituto Oncologico Veneto, Padua) ; Agata, Simona (Istituto Oncologico Veneto, Padua) ; Maugard, Christine (Hopitaux Universitaire de Strasbourg) ; Simard, Jacques (Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City) ; Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City) ; Berger, Andreas (Medical University of Vienna) ; Fink-Retter, Anneliese (Medical University of Vienna) ; Singer, Christian F. (Medical University of Vienna) ; Rappaport, Christine (Medical University of Vienna) ; Geschwantler-Kaulich, Daphne (Medical University of Vienna) ; Tea, Muy-Kheng (Medical University of Vienna) ; Pfeiler, Georg (Medical University of Vienna) ; John, Esther M. (Cancer Prevention Institute of California) ; Miron, Alex (Dana-Farber Cancer Institute, Boston, Massachusetts) ; Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica)) ; Terry, Mary Beth (Columbia University) ; Chung, Wendy (Columbia University) ; Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania) ; Goldgar, David E. (University of Utah School of Medicine, Salt Lake City) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics) ; Dorfling, Cecilia M. (University of Pretoria, Arcadia) ; van Rensburg, Elisabeth J. (University of Pretoria, Arcadia) ; Fostira, Florentia (National Centre for Scientific Research Demokritos, Athens) ; Konstantopoulou, Irene (National Centre for Scientific Research Demokritos, Athens) ; Garber, Judy (Harvard Medical School, Boston) ; Godwin, Andrew K. (University of Kansas Medical Center, Kansas City) ; Olah, Edith (National Institute of Oncology, Budapest) ; Narod, Steven A. (University of Toronto) ; Rennert, Gad (Clalit National Israeli Cancer Control Center) ; Paluch, Shani Shimon (Chaim Sheba Medical Center, Ramat Gan) ; Laitman, Yael (Institute of Human Genetics, Ramat Gan) ; Friedman, Eitan (Tel Aviv University, Ramat Aviv) ; Liljegren, Annelie (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Stenmark-Askmalm, Marie (Linköping University, Sweeden) ; Loman, Niklas (Lund University Hospital, Sweeden) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St.-Petersburg) ; Hamann, Ute (German Cancer Research Center (DKFZ), Heidelberg) ; Spurdle, Amanda B. (Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane) ; Healey, Sue (Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California) ; Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California) ; Margileth, David (St. Joseph Hospital of Orange, Duarte, California) ; Gorrini, Chiara (University Health Network, Toronto) ; Esteller, M (Institució Catalana de Recerca i Estudis Avançats) ; Gómez Moruno, Antonio (Institut d'Investigació Biomèdica de Bellvitge) ; Sayols, Sergi (Institut d'Investigació Biomèdica de Bellvitge) ; Vidal, Enrique (Institut d'Investigació Biomèdica de Bellvitge) ; Heyn, Holger (Institut d'Investigació Biomèdica de Bellvitge) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Léoné, Melanie (Hospices Civils de Lyon-Centre Léon Bérard, Lyon) ; Barjhoux, Laure (Université Lyon 1) ; Fassy-Colcombet, Marion (Institut Curie, Paris) ; De Pauw, Antoine (Institut Curie, Paris) ; Lasset, Christine (Université Lyon 1) ; Ferrer, Sandra Fert (Hôtel Dieu Centre Hospitalier, Chambéry) ; Castera, Laurent (Department of Tumour Biology, Institut Curie, Paris) ; Berthet, Pascaline (Centre François Baclesse, Caen, France) ; Cornelis, François (Genetic Unit, Avicenne Hospital, Clermont-Ferrand) ; Bignon, Yves-Jean (Université de Clermont-Ferrand) ; Damiola, Francesca (Centre de Recherche en Cancérologie de Lyon) ; Mazoyer, Sylvie (Centre de Recherche en Cancérologie de Lyon) ; Sinilnikova, Olga M. (Centre de Recherche en Cancérologie de Lyon) ; Maxwell, Christopher A. (University of British Columbia, Vancouver) ; Vijai, Joseph (Memorial Sloan-Kettering Cancer Center, New York) ; Robson, Mark (Memorial Sloan-Kettering Cancer Center, New York) ; Kauff, Noah (Memorial Sloan-Kettering Cancer Center, New York) ; Corines, Marina (Memorial Sloan-Kettering Cancer Center, New York) ; Villano, Danylko (Memorial Sloan-Kettering Cancer Center, New York) ; Cunningham, Julie M. (Mayo Clinic, Rochester, Minnesota, United States of America) ; Lee, Adam (Mayo Clinic, Rochester, Minnesota) ; Lindor, Noralane (Mayo Clinic, Scottsdale, Arizona) ; Lázaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ; Easton, Douglas F. (University of Cambridge) ; Offit, Kenneth (Memorial Sloan-Kettering Cancer Center, New York) ; Chenevix-Trench, Georgia (Queensland Institute of Medical Research, Brisbane, Australia) ; Couch, Fergus J. (Mayo Clinic, Rochester, Minnesota) ; Antoniou, Antonis C. (University of Cambridge) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge)
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. [...]
2015 - 10.1371/journal.pone.0120020
PloS one, Vol. 10 (april 2015)  
6.
22 p, 1.6 MB Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus / Lawrenson, Kate (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Kar, Siddhartha (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; McCue, Karen (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Kuchenbaeker, Karoline (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Michailidou, Kyriaki (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Tyrer, Jonathan (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Beesley, Jonathan (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Li, Qiyuan (Department of Medical Oncology, The Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute) ; Delgado, Melissa K. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Lee, Janet M. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Aittomäki, Kristiina (Helsinki University Hospital (Finlàndia)) ; Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto) ; Anton-Culver, Hoda (Department of Epidemiology, Genetic Epidemiology Research Institute, School of Medicine, University of California Irvine) ; Arndt, Volker (Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)) ; Arun, Banu K. (University of Texas MD Anderson Cancer Center) ; Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Bandera, Elisa V. (Cancer Prevention and Control, Rutgers Cancer Institute of New Jersey) ; Barile, Monica (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia) ; Barkardottir, Rosa B. (Department of Pathology, Landspitali University Hospital and BMC (Biomedical Centre), Faculty of Medicine, University of Iceland) ; Barrowdale, Daniel (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Beckmann, Matthias W. (University Hospital Erlangen, Department of Gynecology and Obstetrics, Friedrich-Alexander-University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Berchuck, Andrew (Department of Obstetrics and Gynecology, Duke University Medical Center) ; Bisogna, Maria (Gynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center) ; Bjorge, Line (Centre for Cancer Biomarkers, Department of Clinical Science, University of Bergen) ; Blomqvist, Carl (Helsinki University Hospital (Finlàndia)) ; Blot, William (International Epidemiology Institute) ; Bogdanova, Natalia (Gynaecology Research Unit, Hannover Medical School) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital) ; Bojesen, Stig E. (Copenhagen University Hospital) ; Bolla, Manjeet K. (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia) ; Børresen-Dale, Anne-Lise (K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo) ; Brauch, Hiltrud (German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ)) ; Brennan, Paul (International Agency for Research on Cancer) ; Brenner, Hermann (Division of Preventive Oncology, German Cancer Research Center (DKFZ)) ; Bruinsma, Fiona (Cancer Epidemiology Centre (Melbourne, Austràlia)) ; Brunet, Joan (Institut d'Investigació Biomèdica de Girona) ; Buhari, Shaik Ahmad (Department of Surgery, National University Health System) ; Burwinkel, Barbara (Department of Obstetrics and Gynecology, University of Heidelberg) ; Butzow, Ralf (Department of Pathology, Helsinki University Central Hospital) ; Buys, Saundra (Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine) ; Cai, Qiuyin (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Campbell, Ian (Cancer Genetics Laboratory, Peter MacCallum Cancer Centre) ; Canniotto, Rikki (Cancer Pathology & Prevention, Division of Cancer Prevention and Population Sciences, Roswell Park Cancer Institute) ; Chang-Claude, Jenny (University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf) ; Chiquette, Jocelyne (Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Centre de recherche FRSQ du Centre hospitalier affilié universitaire de Québec) ; Choi, Ji-Yeob (Department of Biomedical Sciences, Seoul National University College of Medicine) ; Claes, Kathleen (Center for Medical Genetics, Ghent University) ; Cook, Linda S. (Division of Epidemiology and Biostatistics, Department of Internal Medicine, University of New Mexico) ; Cox, Angela (Sheffield Cancer Research, Department of Oncology, University of Sheffield) ; Cramer, Daniel W. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Cross, Simon S. (Academic Unit of Pathology, Department of Neuroscience, University of Sheffield) ; Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University) ; Czene, Kamila (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Daly, Mary B. (Department of Clinical Genetics, Fox Chase Cancer Center) ; Damiola, Francesca (INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon) ; Dansonka-Mieszkowska, Agnieszka (Department of Pathology and Laboratory Diagnostics the Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology) ; Darabi, Hatef (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Dennis, Joe (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Devilee, Peter (Department of Human Genetics, Leiden University Medical Center) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Doherty, Jennifer A. (Department of Community and Family Medicine, Section of Biostatistics & Epidemiology, The Geisel School of Medicine at Dartmouth) ; Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania) ; Dorfling, Cecilia M. (Department of Genetics, University of Pretoria) ; Dörk, Thilo (Gynaecology Research Unit, Hannover Medical School) ; Dumont, Martine (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University) ; Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital) ; Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet) ; Ellis, Steve (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig) ; Lee, Eunjung (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Evans, Gareth (Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals NHS Foundation Trust) ; Fasching, Peter A. (University of California at Los Angeles, David Geffen School of Medicine, Department of Medicine, Division of Hematology and Oncology) ; Feliubadalo, Lidia (Institut d'Investigació Biomèdica de Bellvitge) ; Figueroa, Jonine (Division of Cancer Epidemiology and Genetics, National Cancer Institute) ; Flesch-Janys, Dieter (Department of Cancer Epidemiology, Clinical Cancer Registry, University Medical Center Hamburg-Eppendorf) ; Fletcher, Olivia (Division of Breast Cancer Research, The Institute of Cancer Research) ; Flyger, Henrik (Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital) ; Foretova, Lenka (Masaryk Memorial Cancer Institute and Medical Faculty MU) ; Fostira, Florentia (Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis) ; Foulkes, William D. (Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal) ; Fridley, Brooke L. (Biostatistics and Informatics Shared Resource, University of Kansas Medical Center) ; Friedman, Eitan (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center) ; Frost, Debra (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Gambino, Gaetana (University Hospital of Pisa (Pisa, Itàlia)) ; Ganz, Patricia A. (UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center) ; Garber, Judy (Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute) ; García-Closas, Montserrat (Division of Genetics and Epidemiology, The Institute of Cancer Research) ; Gentry-Maharaj, Aleksandra (Women's Cancer, UCL EGA Institute for Women's Health) ; Ghoussaini, Maya (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Giles, Graham G. (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Glasspool, Rosalind (Cancer Research UK Clinical Trials Unit, The Beatson West of Scotland Cancer Centre) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center) ; Goldberg, Mark S. (Department of Medicine, McGill University) ; Goldgar, David E. (Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine) ; González-Neira, Anna (Centro Nacional de Investigaciones Oncológicas) ; Goode, Ellen L. (Department of Health Sciences Research, Mayo Clinic) ; Goodman, Marc T. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health) ; Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University) ; Guénel, Pascal (University Paris-Sud) ; Haiman, Christopher A. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Hall, Per (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Hallberg, Emily (Department of Health Sciences Research, Mayo Clinic) ; Hamann, Ute (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)) ; Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet) ; Harrington, Patricia A. (Department of Oncology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory) ; Hartman, Mikael (Saw Swee Hock School of Public Health, National University of Singapore) ; Hassan, Norhashimah (Cancer Research Initiatives Foundation, Subang Jaya) ; Healey, Sue (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Heitz, Florian (Department of Gynecology and Gynecologic Oncology, Dr Horst Schmidt Kliniken Wiesbaden) ; Herzog, Josef (Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network) ; Høgdall, Estrid (Department of Virus, Lifestyle and Genes, Danish Cancer Society Research Center) ; Høgdall, Claus K. (Copenhagen University Hospital Rigshospitalet) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Hollestelle, Antoinette (Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute) ; Hopper, John L. (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Hulick, Peter J. (Center for Medical Genetics, NorthShore University Health System) ; Huzarski, Tomasz (Department of Genetics and Pathology, Pomeranian Medical University) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology) ; Isaacs, Claudine (Lombardi Comprehensive Cancer Center, Georgetown University) ; Ito, Hidemi (Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University) ; Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine) ; Jensen, Allan (Copenhagen University Hospital Rigshospitalet) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California) ; Johnson, Nichola (Division of Breast Cancer Research, The Institute of Cancer Research) ; Kabisch, Maria (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)) ; Kang, Daehee (Department of Preventive Medicine, Seoul National University College of Medicine) ; Kapuscinski, Miroslav (Centre for Epidemiology and Biostatistics, University of Melbourne) ; Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Khan, Sofia (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital) ; Kiemeney, Lambertus A. (Radboud University Medical Centre, Radboud Institute for Health Sciences) ; Kjaer, Susanne Kruger (Copenhagen University Hospital Rigshospitalet) ; Knight, Julia A. (Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto) ; Konstantopoulou, Irene (Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis) ; Kosma, Veli-Matti (Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland) ; Kristensen, Vessela (Oslo University Hospital (Oslo, Noruega)) ; Kupryjanczyk, Jolanta (Department of Pathology and Laboratory Diagnostics the Maria Sklodowska Curie Memorial Cancer Center and Institute of Oncology) ; Kwong, Ava (Department of Surgery, The University of Hong Kong) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Laitman, Yael (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center) ; Lambrechts, Diether (Laboratory for Translational Genetics, Department of Oncology, University of Leuven) ; Le, Nhu (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; De Leeneer, Kim (Center for Medical Genetics, Ghent University) ; Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Levine, Douglas A. (Gynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center) ; Li, Jingmei (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Lindblom, Annika (Karolinska Institutet (Estocolm, Suècia). Department of Molecular Medicine and Surgery) ; Long, Jirong (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Lophatananon, Artitaya (Division of Health Sciences, Warwick Medical School, Warwick University) ; Loud, Jennifer T. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health) ; Lu, Karen (Department of Gynecologic Oncology, The University of Texas MD Anderson Cancer Center) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University) ; Mannermaa, Arto (Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT)) ; Le Marchand, Loic (University of Hawaii Cancer Center) ; Margolin, Sara (Department of Oncology - Pathology, Karolinska Institutet) ; Marme, Frederik (National Center for Tumour Diseases, University of Heidelberg) ; Massuger, Leon F. A. G. (Radboud University Medical Centre. Department of Gynaecology) ; Matsuo, Keitaro (Department of Preventive Medicine, Kyushu University Faculty of Medical Sciences) ; Mazoyer, Sylvie (INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon) ; McGuffog, Lesley (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; McLean, Catriona (Anatomical Pathology, The Alfred Hospital) ; McNeish, Iain (Institute of Cancer Sciences, University of Glasgow, Wolfson Wohl Cancer Research Centre, Beatson Institute for Cancer Research) ; Meindl, Alfons (Technische Universität München) ; Menon, Usha (Women's Cancer, UCL EGA Institute for Women's Health) ; Mensenkamp, Arjen R. (Department of Human Genetics, Radboud University Medical Centre) ; Milne, Roger L. (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Montagna, Marco (Immunology and Molecular Oncology Unit, Instituto Oncologico Veneto IOV, IRCCS) ; Moysich, Kirsten B. (Department of Cancer Prevention and Control, Roswell Park Cancer Institute) ; Muir, Kenneth (Institute of Population Health, University of Manchester) ; Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto) ; Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania) ; Ness, Roberta B. (The University of Texas School of Public Health) ; Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope) ; Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital) ; Nord, Silje (K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo) ; Nussbaum, Robert L. (Department of Medicine and Genetics, University of California) ; Odunsi, Kunle (Department of Gynecological Oncology, Roswell Park Cancer Institute) ; Offit, Kenneth (Department of Medicine, Memorial Sloan-Kettering Cancer Center) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center) ; Olson, Janet E. (Department of Health Sciences Research, Mayo Clinic) ; Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic) ; O'Malley, David (The Ohio State University and the James Cancer Center) ; Orlow, Irene (Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center) ; Orr, Nick (Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research) ; Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Park, Sue Kyung (Department of Surgery, Seoul National University College of Medicine) ; Pearce, Celeste L. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Pejovic, Tanja (Knight Cancer Institute, Oregon Health and Science University) ; Peterlongo, Paolo (IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology) ; Pfeiler, Georg (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna) ; Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center) ; Poole, Elizabeth M. (Department of Epidemiology, Harvard TH Chan School of Public Health) ; Pylkäs, Katri (Laboratory of Cancer Genetics and Tumour Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu) ; Radice, Paolo (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT)) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Rashid, Muhammad Usman (Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC)) ; Rennert, Gad (Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine) ; Rhenius, Valerie (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Rhiem, Kerstin (University Hospital of Cologne (Colònia, Alemanya). Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO)) ; Risch, Harvey A. (Department of Chronic Disease Epidemiology, Yale School of Public Health) ; Rodriguez, Gus (Division of Gynecologic Oncology, NorthShore University HealthSystem) ; Rossing, Mary Anne (Department of Epidemiology, University of Washington) ; Rudolph, Anja (Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)) ; Salvesen, Helga B. (Centre for Cancer Biomarkers, Department of Clinical Science, University of Bergen) ; Sangrajrang, Suleeporn (National Cancer Institute) ; Sawyer, Elinor J. (King's College London) ; Schildkraut, Joellen M. (Cancer Control and Population Sciences, Duke Cancer Institute) ; Schmidt, Marjanka K. (Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital) ; Schmutzler, Rita K. (Center of Familial Breast and Ovarian Cancer, University Hospital of Cologne) ; Sellers, Thomas A. (Department of Cancer Epidemiology, Moffitt Cancer Center) ; Seynaeve, Caroline (Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute) ; Shah, Mitul (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Shen, Chen-Yang (School of Public Health, China Medical University) ; Shu, Xiao-Ou (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Sieh, Weiva (Department of Health Research and Policy - Epidemiology, Stanford University School of Medicine) ; Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna) ; Sinilnikova, Olga M. (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon) ; Slager, Susan (Department of Health Sciences Research, Mayo Clinic) ; Song, Honglin (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Soucy, Penny (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University) ; Southey, Melissa C. (Department of Pathology, University of Melbourne) ; Stenmark-Askmalm, Marie (Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes) ; Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg) ; Swerdlow, Anthony (Division of Genetics and Epidemiology, The Institute of Cancer Research) ; Tchatchou, Sandrine (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ; Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), Porto University) ; Teo, Soo H. (Cancer Research Initiatives Foundation, Subang Jaya) ; Terry, Kathryn L. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria) ; Tihomirova, Laima (Latvian Biomedical Research and Study Centre) ; Tognazzo, Silvia (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico)) ; Toland, Amanda Ewart (Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University) ; Tomlinson, Ian (Wellcome Trust Centre for Human Genetics (Oxford, Regne Unit)) ; Torres, Diana (Institute of Human Genetics, Pontificia Universidad Javeriana, Cra. 7 #40-62) ; Truong, Thérèse (University Paris-Sud) ; Tseng, Chiu-chen (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Tung, Nadine (Department of Medical Oncology, Beth Israel Deaconess Medical Center) ; Tworoger, Shelley S. (Department of Epidemiology, Harvard TH Chan School of Public Health) ; Vachon, Celine (Department of Health Sciences Research, Mayo Clinic) ; van den Ouweland, Ans M. W. (Department of Clinical Genetics, Erasmus University Medical Center) ; van Doorn, Helena C. (Department of Gynecology, Family Cancer Clinic, Erasmus MC Cancer Institute) ; van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria) ; Van't Veer, Laura J. (Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital) ; Vanderstichele, Adriaan (University Hospitals Leuven (Bèlgica)) ; Vergote, Ignace (University Hospitals Leuven (Bèlgica)) ; Vijai, Joseph (Department of Medicine, Memorial Sloan-Kettering Cancer Center) ; Wang, Qin (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Wang-Gohrke, Shan (University Hospital Ulm, 89069 Ulm) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network) ; Wentzensen, Nicolas (Division of Cancer Epidemiology and Genetics, National Cancer Institute) ; Whittemore, Alice S. (Department of Health Research and Policy - Epidemiology, Stanford University School of Medicine) ; Wildiers, Hans (University Hospitals Leuven (Bèlgica)) ; Winqvist, Robert (Laboratory of Cancer Genetics and Tumour Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu) ; Wu, Anna H. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research 'Demokritos') ; Yoon, Sook-Yee (University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya) ; Yu, Jyh-Cherng (Department of Surgery, Tri-Service General Hospital, National Defense Medical Center) ; Zheng, Wei (Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Zheng, Ying (Shanghai Center for Disease Control and Prevention) ; Khanna, Kum Kum (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Simard, Jacques (Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University) ; Monteiro, Alvaro N. (Cancer Epidemiology Program, Division of Population Sciences, H. Lee Moffitt Cancer Center & Research Institute) ; French, Juliet D. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic) ; Freedman, Matthew L. (Department of Medical Oncology, The Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute) ; Easton, Douglas F. (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Dunning, Alison M. (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Pharoah, Paul D. (Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Edwards, Stacey L. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Chenevix-Trench, Georgia (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Antoniou, Antonis C. (Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge) ; Gayther, Simon A. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Universitat Autònoma de Barcelona
A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P =9. [...]
2016 - 10.1038/ncomms12675
Nature communications, Vol. 7 (09 2016)  
7.
11 p, 362.2 KB BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort / Rofes, Paula (Centro de Investigación Biomédica en Red de Cáncer) ; Del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Torres Esquius, Sara (Vall d'Hebron Institut d'Oncologia) ; Feliubadaló, Lidia (Centro de Investigación Biomédica en Red de Cáncer) ; Stradella, Agostina (Institut Català d'Oncologia) ; Moreno-Cabrera, José Marcos (Centro de Investigación Biomédica en Red de Cáncer) ; López-Doriga, Adriana (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Munté, Elisabet (Centro de Investigación Biomédica en Red de Cáncer) ; de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Campos, Olga (Institut Català d'Oncologia) ; Cuesta, Raquel (Institut Català d'Oncologia) ; Teulé, Álex (Institut Català d'Oncologia) ; Grau, Èlia (Institut Català d'Oncologia) ; Sanz, Judit (Althaia Xarxa Assistencial Universitària de Manresa) ; Capellá, G. (Gabriel) (Centro de Investigación Biomédica en Red de Cáncer) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Brunet, Joan (Universitat de Girona) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Only a small fraction of hereditary breast and/or ovarian cancer (HBOC) cases are caused by germline variants in the high-penetrance breast cancer 1 and 2 genes (BRCA1 and BRCA2). BRCA1-associated ring domain 1 (BARD1), nuclear partner of BRCA1, has been suggested as a potential HBOC risk gene, although its prevalence and penetrance are variable according to populations and type of tumor. [...]
2021 - 10.3390/genes12020150
Genes, Vol. 12 (january 2021)  
8.
14 p, 502.9 KB Presenting features and early mortality from SARS-CoV-2 infection in cancer patients during the initial stage of the COVID-19 pandemic in Europe / Pinato, David J. (Imperial College London. Department of Surgery & Cancer) ; Lee, Alvin J. X. (University College London Hospitals) ; Biello, Federica (University of Piemonte Orientale) ; Seguí, Elia (Hospital Clínic i Provincial de Barcelona) ; Aguilar-Company, Juan (Hospital Universitari Vall d'Hebron) ; Carbó, Anna (Hospital Universitari de Girona Doctor Josep Trueta) ; Bruna, Riccardo (University of Piemonte Orientale) ; Bower, Mark (Chelsea & Westminster Hospital) ; Rizzo, Gianpiero (Fondazione IRCCS Policlinico San Matteo) ; Benafif, Sarah (University College London Hospitals) ; Carmona, Carme (Hospital Universitari de Girona Doctor Josep Trueta) ; Chopra, Neha (University College London Hospitals) ; Cruz, Claudia Andrea (Hospital Clínic i Provincial de Barcelona) ; D'avanzo, Francesca (University of Piemonte Orientale) ; Evans, Joanne S. (Imperial College London) ; Galazi, Myria (University College London Hospitals) ; Garcia-Fructuoso, Isabel (Hospital Universitari de Girona Doctor Josep Trueta) ; Pria, Alessia D. (Chelsea & Westminster Hospital) ; Newsom-Davis, Thomas (Chelsea & Westminster Hospital) ; Ottaviani, Diego (University College London Hospitals) ; Patriarca, Andrea (University of Piemonte Orientale) ; Reyes, Roxana (Hospital Clínic i Provincial de Barcelona) ; Sharkey, Rachel (University of Piemonte Orientale) ; Sng, Christopher C. T. (University College London Hospitals) ; Wong, Yien Ning Sophia (University College London Hospitals) ; Ferrante, Daniela (University of Piemonte Orientale) ; Scotti, Lorenza (University of Piemonte Orientale) ; Avanzi, Gian Carlo (University of Piemonte Orientale) ; Bellan, Mattia (University of Piemonte Orientale) ; Castello, Luigi Mario (University of Piemonte Orientale) ; Marco-Hernández, Javier (Hospital Clínic i Provincial de Barcelona) ; Mollà, Meritxell (Hospital Clínic i Provincial de Barcelona) ; Pirisi, Mario (University of Piemonte Orientale) ; Ruiz-Camps, Isabel (Hospital Universitari Vall d'Hebron) ; Sainaghi, Pier Paolo (University of Piemonte Orientale) ; Gaidano, Gianluca (University of Piemonte Orientale) ; Brunet, Joan (Hospital Universitari de Girona Doctor Josep Trueta) ; Tabernero, Josep (Vall d'Hebron Institut d'Oncologia) ; Prat, Aleix (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gennari, Alessandra (University of Piemonte Orientale) ; Universitat Autònoma de Barcelona
We describe the outcomes in cancer patients during the initial outbreak of the COVID-19 in Europe from the retrospective, multi-center observational OnCovid study. We identified 204 cancer patients from eight centers in the United Kingdom, Italy, and Spain aged > 18 (mean = 69) and diagnosed with COVID-19 between February 26th and April 1st, 2020. [...]
2020 - 10.3390/cancers12071841
Cancers, Vol. 12 Núm. 7 (july 2020) , p. 1-13  
9.
20 p, 2.9 MB Complete loss of epcam immunoexpression identifies epcam deletion carriers in msh2negative colorectal neoplasia / Cuatrecasas, Miriam (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ; Gorostiaga, I. (Arabako Unibertsitate Ospitalea (Vitoria, País Basc)) ; Riera, C. (Grup Quirónsalud (Barcelona, Catalunya)) ; Saperas, E. (Universitat Internacional de Catalunya) ; Llort, G. (Oncology Department. Consorci Sanitari de Terrassa) ; Costa, Irmgard (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Matias-Guiu, X. (Centro de Investigación Biomédica en Red de Cáncer) ; Carrato, Cristina (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Navarro, M. (Institut d'Investigació Biomèdica de Bellvitge) ; Pineda, Marta (Institut d'Investigació Biomèdica de Bellvitge) ; Dueñas, N. (Institut d'Investigació Biomèdica de Bellvitge) ; Brunet, Joan (Institut d'Investigació Biomèdica de Girona) ; Marco, V. (Hospital Quirónsalud Barcelona. Departament de Patologia) ; Trias, I. (Department of Pathology. Hospital Platón) ; Busteros, J. I. (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ; Mateu, G. (Hospital Universitari de Girona Doctor Josep Trueta) ; Balaguer, Francesc (Hospital Clínic i Provincial de Barcelona) ; Fernandez Figueras, Maria Teresa (Hospital Universitari General de Catalunya) ; Esteller, M. (Institució Catalana de Recerca i Estudis Avançats) ; Musulén, Eva (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
The use of epithelial cell adhesion molecule (EPCAM) immunohistochemistry (IHC) is not included in the colorectal cancer (CRC) screening algorithm to detect Lynch syndrome (LS) patients. The aim of the present study was to demonstrate that EPCAM IHC is a useful tool to guide the LS germ-line analysis when a loss of MSH2 expression was present. [...]
2020 - 10.3390/cancers12102803
Cancers, Vol. 12 Núm. 10 (october 2020) , p. 1-20  
10.
41 p, 7.4 MB Immune Cell Associations with Cancer Risk / Palomero, Luis (Institut d'Investigació Biomèdica de Bellvitge) ; Galván-Femenía, Iván (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; de Cid, Rafael (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Espín, Roderic (Institut d'Investigació Biomèdica de Bellvitge) ; Barnes, Daniel R. (University of Cambridge) ; Blommaert, Eline (Institut d'Investigació Biomèdica de Bellvitge) ; Gil-Gil, Miguel (Institut d'Investigació Biomèdica de Bellvitge) ; Falo, Catalina (Institut d'Investigació Biomèdica de Bellvitge) ; Stradella, Agostina (Institut d'Investigació Biomèdica de Bellvitge) ; Ouchi, Dan (Universitat Autònoma de Barcelona) ; Roso-Llorach, Albert (Institut Universitari d'Investigació en Atenció Primària Jordi Gol) ; Violán, Concepció (Institut Universitari d'Investigació en Atenció Primària Jordi Gol) ; Peña-Chilet, María (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Dopazo, Joaquín (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Extremera, Ana Isabel (Institut d'Investigació Biomèdica de Bellvitge) ; García-Valero, Mar (Institut d'Investigació Biomèdica de Bellvitge) ; Herranz-Ors, C.. (Institut d'Investigació Biomèdica de Bellvitge) ; Mateo, Francesca (Institut d'Investigació Biomèdica de Bellvitge) ; Mereu, Elisabetta (Centre Nacional d'Anàlisi Genòmica) ; Beesley, Jonathan (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Chenevix-Trench, Georgia (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Roux, Cecilia (University Health Network) ; Mak, Tak (University Health Network) ; Brunet, Joan (Institut d'Investigació Biomèdica de Girona) ; Hakem, Razq (University of Toronto) ; Gorrini, Chiara (University Health Network (Toronto, Canadà)) ; Antoniou, Antonis C. (University of Cambridge) ; Lázaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ; Pujana, Miquel Angel (Institut d'Investigació Biomèdica de Bellvitge) ; Centre for Cancer Genetic Epidemiology. CIMBA ; Universitat Autònoma de Barcelona
Proper immune system function hinders cancer development, but little is known about whether genetic variants linked to cancer risk alter immune cells. Here, we report 57 cancer risk loci associated with differences in immune and/or stromal cell contents in the corresponding tissue. [...]
2020 - 10.1016/j.isci.2020.101296
iScience, Vol. 23 (june 2020)  

Articles : 17 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 3 registres trobats  
1.
133 p, 4.6 MB Comprensión de las bases genéticas del cáncer hereditario / Stradella Trucco, Agostina ; Lázaro García, Conxi, dir. ; Brunet, Joan, dir. ; Bielsa Marsol, Ma. Isabel, dir.
El càncer hereditari representa un 5-10% de totes les neoplàsies diagnosticades. Inicialment els estudis genètics en pacients amb sospita de càncer hereditari es feien de forma seqüencial, gen a gen, mitjançant seqüenciació Sanger. [...]
El cáncer hereditario representa un 5-10% de todas las neoplasias diagnosticadas. Inicialmente los estudios genéticos en pacientes con sospecha de cáncer hereditario se realizaban de forma secuencial, gen a gen, mediante secuenciación Sanger. [...]
Hereditary cancer represents 5-10% of all neoplasms diagnosed. Initially, genetic studies in patients with suspected hereditary cancer were performed sequentially, gene by gene, by Sanger sequencing. [...]

2022  
2.
238 p, 1.3 MB Estudi epidemiològic, genètic i clínic del registre de famílies amb càncer de mama i ovari hereditaris de l'hospital de la santa creu i sant pau (1995-2005) / Sanz i Buxó, Judit ; Brunet, Joan, dir. ; Puig Reixach, Maria Teresa, dir. ; Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
[Barcelona] : Universitat Autònoma de Barcelona, 2014  
3.
132 p, 3.3 MB Development and validation of predictive model for identification of MLH1 and MSH2 mutation carriers in Lynch syndrome / Balmaña Gelpí, Judith ; Brunet, Joan (dir.) ; Baselga Torres, Josep, 1959-2021, dir. (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona. Departament de Medicina
Lynch syndrome is the most frequent hereditary colorectal cancer syndrome. It is estimated to account for 1-3% of all colorectal cancer patients and endometrial cancer patients14. Many studies have been published to attempt to address the prevalence of this syndrome and the heterogeneity is huge, mostly because population-based studies are few, geographical distribution of carriers may differ due to founder mutations, or studies may include testing of different type of mismatch repair (MMR) genes15-28. [...]
Bellaterra : Universitat Autònoma de Barcelona, 2010  

Vegeu també: autors amb noms similars
1 Brunet, J
1 Brunet, J.
23 Brunet, Joan
2 Brunet, Joan,
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