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1.
34 p, 2.3 MB Pot1 and damage response malfunction trigger acquisition of somatic activating mutations in the vegf pathway in cardiac angiosarcomas / Calvete, Oriol (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Pavía, Pablo (Universidad Francisco de Vitoria) ; Domınguez, Fernando (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Mosteiro, Lluc (Centro Nacional de Investigaciones Oncológicas) ; Perez Cabornero, Lucía (Parque Tecnologico de Valencia) ; Cantalapiedra, Diego (Parque Tecnologico de Valencia) ; Zorio, Esther (Hospital Universitari i Politècnic La Fe (València)) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Crespo-Leiro, Maria Generosa (Instituto de Investigación Biomédica de A Coruña (INIBIC)) ; Teule, Alex (Hospital Universitari de Bellvitge) ; Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ; Morente, Manuel M. (Centro Nacional de Investigaciones Oncológicas) ; Urioste, Miguel (Centro Nacional de Investigaciones Oncológicas) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Mutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poorly understood. [...]
2019 - 10.1161/JAHA.119.012875
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol. 8 Núm. 18 (2019) , p. e012875  
2.
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  
3.
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  
4.
14 p, 1.1 MB Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases / Bullich Vilanova, Gemma (Centre de Regulació Genòmica) ; Matalonga, Leslie (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Pujadas, Montserrat (Universitat Pompeu Fabra) ; Papakonstantinou, Anastasios (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Piscia, Davide (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ; Tonda, Raúl (Centre de Regulació Genòmica) ; Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ; Garrabou, Glòria (CELLEX-Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS)) ; González, Juan Ramón (Centro de Investigaciones Biomédicas en Red de Epidemiología y Salud Pública (CIBERESP). Instituto de Salud Carlos III) ; Grinberg, Daniel (Institut de Recerca Sant Joan de Déu) ; Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Laurie, Steven (Centre de Regulació Genòmica) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ; Luengo, Cristina (Centre de Regulació Genòmica) ; Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Milà, Montserrat (Institut d'Investigació Biomèdica August Pi I Sunyer (IDIBAPS)) ; Ovelleiro, David (Centre de Regulació Genòmica) ; Parra, Genís (Centre de Regulació Genòmica) ; Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ; Tizzano, Eduardo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Palau, Francesc (Hospital Clínic i Provincial de Barcelona) ; Ribes, Antònia (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Pérez-Jurado, Luis A. (Women's and Children's Hospital. South Australian Health and Medical Research Institute and The University of Adelaide) ; Beltran i Agulló, Sergi (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ; Schlüter, Agatha (Centre nacional d'anàlisi genòmica) ; Rodriguez-Palmero, Agustí (Centre nacional d'anàlisi genòmica) ; Cáceres, Alejandro (Centre nacional d'anàlisi genòmica) ; Nascimento, Andrés (Centre nacional d'anàlisi genòmica) ; García-Cazorla, Àngels (Centre nacional d'anàlisi genòmica) ; Cueto-González, Anna (Centre nacional d'anàlisi genòmica) ; Marcé-Grau, Anna (Centre nacional d'anàlisi genòmica) ; Ruiz Nel Lo, Anna (Centre nacional d'anàlisi genòmica) ; Martínez-Monseny, Antonio (Centre nacional d'anàlisi genòmica) ; Sànchez, Aurora (Centre nacional d'anàlisi genòmica) ; García, Belén (Centre nacional d'anàlisi genòmica) ; Pérez-Dueñas, Belén (Centre nacional d'anàlisi genòmica) ; Gel, Bernat (Centre nacional d'anàlisi genòmica) ; Fusté, Berta (Centre nacional d'anàlisi genòmica) ; Hernández-Ferrer, Carles (Centre nacional d'anàlisi genòmica) ; Casasnovas, Carlos (Centre nacional d'anàlisi genòmica) ; Ortez González, Carlos Ignacio (Centre nacional d'anàlisi genòmica) ; Arjona, César (Centre nacional d'anàlisi genòmica) ; Hernando-Davalillo, Cristina (Centre nacional d'anàlisi genòmica) ; Natera de Benito, Daniel (Centre nacional d'anàlisi genòmica) ; Picó Amador, Daniel (Centre nacional d'anàlisi genòmica) ; Gómez-Andrés, David (Centre nacional d'anàlisi genòmica) ; Yubero, Délia (Centre nacional d'anàlisi genòmica) ; Pelegrí-Sisó, Dolors (Centre nacional d'anàlisi genòmica) ; Verdura, Edgard (Centre nacional d'anàlisi genòmica) ; García-Arumí, Elena (Centre nacional d'anàlisi genòmica) ; Castellanos, Elisabeth (Centre nacional d'anàlisi genòmica) ; Gabau, Elisabeth (Centre nacional d'anàlisi genòmica) ; Tobías, Ester (Centre nacional d'anàlisi genòmica) ; López-Grondona, Fermina (Centre nacional d'anàlisi genòmica) ; Cardellach, Francesc (Centre nacional d'anàlisi genòmica) ; Garcia-Garcia, Francesc Josep (Centre nacional d'anàlisi genòmica) ; Munell, Francina (Centre nacional d'anàlisi genòmica) ; Tort, Frederic (Centre nacional d'anàlisi genòmica) ; Aznar, Gemma (Centre nacional d'anàlisi genòmica) ; Olivé-Cirera, Gemma (Centre nacional d'anàlisi genòmica) ; Tell, Gemma (Centre nacional d'anàlisi genòmica) ; Muñoz-Pujol, Gerard (Centre nacional d'anàlisi genòmica) ; Paramonov, Ida (Centre nacional d'anàlisi genòmica) ; Blanco Guillermo, Ignacio (Centre nacional d'anàlisi genòmica) ; Madrigal, Irene (Centre nacional d'anàlisi genòmica) ; Valenzuela, Irene (Centre nacional d'anàlisi genòmica) ; Gut, Ivo (Centre Nacional d'Anàlisi Genòmica) ; Cusco, Ivon (Centre nacional d'anàlisi genòmica) ; Trotta, Jean-Rémi (Centre nacional d'anàlisi genòmica) ; Cruz, Jordi (Centre nacional d'anàlisi genòmica) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Milisenda, José César (Centre nacional d'anàlisi genòmica) ; Ma Grau, Josep (Centre nacional d'anàlisi genòmica) ; Garcia-Villoria, Judit (Centre nacional d'anàlisi genòmica) ; Armstrong, Judith (Centre nacional d'anàlisi genòmica) ; Cantó, Judith (Centre nacional d'anàlisi genòmica) ; Sala-Coromina, Júlia (Centre nacional d'anàlisi genòmica) ; Rodríguez-Revenga, Laia (Centre nacional d'anàlisi genòmica) ; Alías, Laura (Centre nacional d'anàlisi genòmica) ; Gort, Laura (Centre nacional d'anàlisi genòmica) ; Gonzalez-Quereda, L (Centre nacional d'anàlisi genòmica) ; Costa, Mar (Centre nacional d'anàlisi genòmica) ; Fernández-Callejo, Marcos (Centre nacional d'anàlisi genòmica) ; López-Sánchez, Marcos (Centre nacional d'anàlisi genòmica) ; Álvarez-Mora, Maria Isabel (Centre nacional d'anàlisi genòmica) ; Gut, Marta (Centre nacional d'anàlisi genòmica) ; Serrano, Mercedes (Centre nacional d'anàlisi genòmica) ; Raspall-Chaure, Miquel (Centre nacional d'anàlisi genòmica) ; Del Toro, Mireia (Centre nacional d'anàlisi genòmica) ; Bayés, Mònica (Centre nacional d'anàlisi genòmica) ; Baena Díez, Neus (Centre nacional d'anàlisi genòmica) ; Spataro, Nino (Centre nacional d'anàlisi genòmica) ; Capdevila, Núria (Centre nacional d'anàlisi genòmica) ; Ugarteburu, Olatz (Centre nacional d'anàlisi genòmica) ; Muñoz-Cabello, Patricia (Centre nacional d'anàlisi genòmica) ; Romero Duque, Penélope (Centre nacional d'anàlisi genòmica) ; Rabionet, Raquel (Centre nacional d'anàlisi genòmica) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Calvo-Escalona, Rosa (Centre nacional d'anàlisi genòmica) ; Urreizti, Roser (Centre nacional d'anàlisi genòmica) ; Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ; Boronat, Susanna (Institut d'Investigació Biomèdica Sant Pau) ; Balcells, Susana (Centre nacional d'anàlisi genòmica) ; Vendrell, Teresa (Centre Nacional d'Anàlisi Genòmica (Catalunya). Undiagnosed Rare Disease Program of Catalonia-URD-Cat) ; Universitat Autònoma de Barcelona
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. [...]
2022 - 10.1016/j.jmoldx.2022.02.003
Journal of Molecular Diagnostics, Vol. 24 Núm. 5 (may 2022) , p. 529-542  
5.
10 p, 860.0 KB Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19 / Solanich, Xavier (Hospital Universitari de Bellvitge) ; Vargas-Parra, Gardenia (Centro de Investigación Biomédica en Red de Cáncer) ; Van der Made, Caspar I oud (University Medical Center) ; Schuurs-Hoeijmakers, Janneke (Radboud University Medical Center) ; Antolí, Arnau (Hospital Universitari de Bellvitge) ; Del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Rocamora-Blanch, Gemma (Hospital Universitari de Bellvitge) ; Setién, Fernando (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Van Reijmersdal, Simon V (Radboud University Medical Center) ; Riera Mestre, Antoni (Universitat de Barcelona) ; Sabater-Riera, Joan (Hospital Universitari de Bellvitge) ; Capellá, G. (Gabriel) (Centro de Investigación Biomédica en Red de Cáncer) ; Van de Veerdonk, Frank L v (Radboud University Medical Center) ; Van der Hoven, Ben (Erasmus MC) ; Corbella, Xavier (Universitat Internacional de Catalunya) ; Hoischen, Alexander (Radboud University Medical Center) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer)
Introduction: Loss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare variants in young men with severe COVID-19. [...]
2021 - 10.3389/fimmu.2021.719115
Frontiers in immunology, Vol. 12 (23 2021) , p. 719115  
6.
15 p, 2.5 MB CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival / Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Rovirosa Mulet, Llorenç (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bustamante-Madrid, Pilar (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Camps-Fajol, Cristina (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; de Garibay, Gorka Ruiz (Institut Català d'Oncologia) ; Shimelis, Hermela (Mayo Clinic) ; Montanuy Escribano, Helena (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol, Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castillo, Pau (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center and Laval University) ; Martrat, Griselda (Institut Català d'Oncologia) ; Gómez Moruno, Antonio (Institut d'Investigació Biomèdica de Bellvitge) ; Cuadras, Daniel (Institut Català d'Oncologia) ; García, María J (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Gayarre, Javier (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Lazaro Garcia, Conxi (Institut Català d'Oncologia) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Couch, Fergus J. (Mayo Clinic) ; Pujana, Miquel Ángel (Institut Català d'Oncologia) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau)
BRCA2 is essential for homologous recombination DNA repair. BRCA2 mutations lead to genome instability and increased risk of breast and ovarian cancer. Similarly, mutations in BRCA2-interacting proteins are also known to modulate sensitivity to DNA damage agents and are established cancer risk factors. [...]
2022 - 10.3390/cancers14020353
Cancers, Vol. 14 Núm. 2 (1-2 2022) , p. 353  
7.
15 p, 1007.8 KB An original phylogenetic approach identified mitochondrial haplogrou,p T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers / Blein, Sophie (Université Lyon 1) ; Bardel, Claire (Université Claude Bernard Lyon 1) ; Danjean, Vincent (INRIA Rhône-Alpes (França)) ; McGuffog, Lesley (University of Cambridge) ; Healey, Sue (QIMR Berghofer (Australia)) ; Barrowdale, Daniel (University of Cambridge) ; Lee, Andrew (University of Cambridge) ; Dennis, Joe (University of Cambridge) ; Kuchenbaecker, Karoline B. (University of Cambridge) ; Soucy, Penny (Laval University (Canadà)) ; Terry, Mary Beth (Columbia University) ; Chung, Wendy (Columbia University College of Physicians and Surgeons) ; Goldgar, David E. (University of Utah School of Medicine) ; Buys, Saundra (University of Utah School of Medicine) ; Janavicius, Ramunas (State Research Institute (Lituania)) ; Tihomirova, Laima (Latvian Biomedical Research and Study Centre) ; Tung, Nadine (Beth Israel Deaconess Medical Center (Estats Units d'Amèrica)) ; Dorfling, Cecilia M. (University of Pretoria) ; van Rensburg, Elizabeth J. (University of Pretoria (Estats Units d'Amèrica)) ; Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica)) ; Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica)) ; Gerdes, Anne-Marie (Copenhagen University Hospital) ; Ejlertsen, Bent (Copenhagen University Hospital) ; Nielsen, Finn C. (Copenhagen University Hospital) ; Hansen, Thomas V. O. (Copenhagen University Hospital) ; Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Conejero, Raquel Andrés (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Segota, Ena (Clinical Cancer Genetics Community Research Network(Estats Units d'Amèrica)) ; Weitzel, Jeffrey N. (Division of Clinical Cancer Genetics(Estats Units d'Amèrica)) ; Thelander, Margo (Walnut Creek (Estats Units d'Amèrica)) ; Peterlongo, Paolo (Istituto FIRC di Oncologia Molecolare) ; Radice, Paolo (Istituto di Ricovero e Cura a Carattere Scientifico) ; Pensotti, Valeria (Cogentech Cancer Genetic Test Laboratory (Itàlia)) ; Dolcetti, Riccardo (Centro di Riferimento Oncologico (Itàlia)) ; Bonanni, Bernardo (Istituto Europeo di Oncologia (Itàlia)) ; Peissel, Bernard (Istituto di Ricovero e Cura a Carattere Scientifico (Itàlia)) ; Zaffaroni, Daniela (Istituto di Ricovero e Cura a Carattere Scientifico (Itàlia)) ; Scuvera, Giulietta (Istituto di Ricovero e Cura a Carattere Scientifico (Itàlia)) ; Manoukian, Siranoush (Istituto di Ricovero e Cura a Carattere Scientifico (Itàlia)) ; Varesco, Liliana (Istituto di Ricovero e Cura a Carattere Scientifico (Itàlia)) ; Capone, Gabriele L. (University of Florence, Florence) ; Papi, Laura (University of Florence, Florence) ; Ottini, Laura (Sapienza University) ; Yannoukakos, Drakoulis (Aristotle University of Thessaloniki School of Medicine) ; Konstantopoulou, Irene (Aghia Paraskevi Attikis) ; Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ; Hamann, Ute (Deutsches Krebsforschungszentrum) ; Donaldson, Alan (St Michael's Hospital) ; Brady, Angela (Kennedy-Galton Centre) ; Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ; Foo, Claire (Liverpool Women's NHS Foundation Trust) ; Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust) ; Frost, Debra (University of Cambridge, Worts Causeway) ; Eccles, Diana M (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ; Douglas, Fiona (Institute of Human Genetics, Northern Genetic Service (Regne Unit)) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Adlard, Julian (Yorkshire Regional Genetics Service) ; Barwell, Julian (Leicestershire Clinical Genetics Service) ; Walker, Lisa (Churchill Hospital) ; Izatt, Louise (St Thomas' NHS Foundation Trust) ; Side, Lucy E. (Great Ormond Street Hospital for Children (Londres)) ; Kennedy, M. John (St. James's Hospital ( Dublín, Irlanda)) ; Tischkowitz, Marc (Addenbrookes Hospital (Cambridge, Regne Unit)) ; Rogers, Mark T. (University Hospital of Wales) ; Porteous, Mary E. (Western General Hospital) ; Morrison, Patrick J. (Belfast City Hospital, Lisburn Road) ; Platte, Radka (University of Cambridge) ; Eeles, Ros (The Institute of Cancer Research and Royal Marsden NHS Foundation Trust) ; Davidson, Rosemarie (Yorkhill Hospitals) ; Hodgson, Shirley (St George's University of London) ; Cole, Trevor (Birmingham Women's Hospital) ; Godwin, Andrew K. (DUniversity of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160 USA) ; Isaacs, Claudine (Lombardi Comprehensive Cancer Center, MedStar Georgetown University Hospital, 3800 Reservoir Road NW, Washington, DC 20057 USA) ; Claes, Kathleen (Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium) ; De Leeneer, Kim (Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium) ; Meindl, Alfons (Division of Tumor Genetics, Department of Gynaecology and Obstetrics, University Hospital Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675 Munich, Germany) ; Gehrig, Andrea (Center of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institut für Humangenetik, Biozentrum, Universität Würzburg, Am Hubland, 97074 Würzburg, Germany) ; Wappenschmidt, Barbara (Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931 Cologne, Germany) ; Sutter, Christian (Heidelberg University Hospital (Alemanya)) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, Medical Faculty, University of Leipzig, Leipzig, Germany) ; Niederacher, Dieter (University Hospital of Düsseldorf (Alemanya)) ; Steinemann, Doris (Institute of Cell and Molecular Pathology, Centre for Pathology and Forensic and Genetic Medicine, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany) ; Plendl, Hansjoerg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, D-24105 Kiel, Germany) ; Kast, Karin (Department of Gynecology and Obstetrics, University Hospital Carl Gustav Carus of Dresden, Technical University Dresden, Dresden, Germany) ; Rhiem, Kerstin (Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Strasse 21, 50931 Cologne, Germany) ; Ditsch, Nina (Division of Tumor Genetics, Department of Gynaecology and Obstetrics, University Hospital Klinikum Rechts der Isar, Technische Universität München, Ismaninger Strasse 22, 81675 Munich, Germany) ; Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Arnold-Heller-Strasse 3, D-24105 Kiel, Germany) ; Varon-Mateeva, Raymonda (Institute of Medical Genetics and Human Genetics, Campus Virchow-Klinikum, Charité Berlin - Universtitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany) ; Schmutzler, Rita K. (German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC), Cologne, Germany) ; Preisler-Adams, Sabine (University Hospital of Münster (Alemanya)) ; Markov, Nadja Bogdanova (University Hospital of Münster (Alemanya)) ; Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya)) ; De Pauw, Antoine (Institut Curie. Department of Tumour Biology) ; Lefol, Cédrick (Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05 France) ; Lasset, Christine (Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008 Lyon, France) ; Leroux, Dominique (Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706 La Tronche, France) ; Rouleau, Etienne (Laboratoire d'Oncogénétique, Hôpital René Huguenin, Institut Curie, 35 rue Dailly, 92210 Saint-Cloud, France) ; Damiola, Francesca (Centre National de la Recherche Scientifique (França)) ; Dreyfus, Hélène (Institut Albert Bonniot - Inserm U823, Université Joseph Fourier, Rond-point de la Chantourne, 38706 La Tronche, France) ; Barjhoux, Laure (Centre National de la Recherche Scientifique (França)) ; Golmard, Lisa (Department of Tumour Biology, Institut Curie, 26 rue d'Ulm 75248, Paris, cedex 05 France) ; Uhrhammer, Nancy (Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011 Clermont-Ferrand, France) ; Bonadona, Valérie (Unité de Prévention et d'Épidémiologie Génétique, Centre Léon Bérard, 28 rue Laenned, 69008 Lyon, France) ; Sornin, Valérie (Centre National de la Recherche Scientifique (França)) ; Bignon, Yves-Jean (Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, 58 rue Montalembert, BP 392, 63011 Clermont-Ferrand, France) ; Carter, Jonathan (Gynaecological Oncology, Sydney Cancer Centre, Royal Prince Alfred Hospital and University of Sydney, Missenden Road, Camperdown, NSW 2050 Australia) ; Van Le, Linda (Gynecologic Oncology Group, Department of OB-GYN, University of North Carolina at Chapel Hill, 103B Physicians' Office Building, CB# 7572, Chapel Hill, NC 27599-7572 USA) ; Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263-0001 USA) ; DiSilvestro, Paul A. (Women & Infants Hospital, 1 Blackstone Place, Providence, RI 02905 USA) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Biomedicum Helsinki, PO Box 700, 00029 Helsinki, Finland) ; Aittomäki, Kristiina (Department of Clinical Genetics, Helsinki University Central Hospital, Biomedicum Helsinki 1, Haartmaninkatu 8, 00290 Helsinki, Finland) ; Jager, Agnes (Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands) ; van den Ouweland, Ans M. W. (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Kets, Carolien M. (Radboud University Medical Centre. Department of Human Genetics) ; Aalfs, Cora M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands) ; van Leeuwen, Flora E. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Hogervorst, Frans B. L. (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands) ; Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Center Amsterdam, De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands) ; Oosterwijk, Jan C. (Department of Genetics, University Medical Center, Groningen University, Groningen, the Netherlands) ; van Roozendaal, Kees E. P. (Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands) ; Rookus, Matti A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Devilee, Peter (Department of Pathology, Leiden University Medical Center, PO Box 9600, 2300 RC L1Q Leiden, the Netherlands) ; van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Ráth György u 7-9, PO Box 1525 Budapest PF 21, 1122 Budapest, Hungary) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge) ; Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ; Blanco Guillermo, Ignacio (Institut d'Investigació Biomèdica de Bellvitge) ; Del Valle, Jesús (Institut d'Investigació Biomèdica de Bellvitge) ; Jakubowska, Anna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Sukiennicki, Grzegorz (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Gronwald, Jacek (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Durda, Katarzyna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Jaworska-Bieniek, Katarzyna (Department of Genetics and Pathomorphology, Faculty of Medicine and Dentistry, Pomeranian Medical University, al Powstancow Wlkp 72, 70-111 Szczecin, Poland) ; Agnarsson, Bjarni A. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Maugard, Christine (Laboratoire de diagnostic génétique et Service d'Onco-hématologie, Les Hopitaux Universitaire de Strasbourg, Nouvel Hôpital Civil, 1 place de l'Hôpital, BP 426, 67091 Strasbourg, France) ; Amadori, Alberto (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128 Padua, Italy) ; Montagna, Marco (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), via Gattamelata 64, 35128 Padua, Italy) ; Teixeira, Manuel R. (Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Rua de Jorge Viterbo Ferreira 228, 4050-313 Porto, Portugal) ; Spurdle, Amanda B. (Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia) ; Foulkes, William (Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, 546 Pine Avenue West, Montreal, QC J2W 1S6 Canada) ; Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA) ; Lindor, Noralane M. (Department of Health Sciences Research, Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ 85259 USA) ; Pankratz, Vernon S. (Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA) ; Szabo, Csilla I (National Human Genome Research Institute, National Institutes of Health, Building 31, Room 4B09, 31 Center Drive, MSC 2152, 9000 Rockville Pike, Bethesda, MD 20892-2152 USA) ; Lincoln, Anne (Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA) ; Jacobs, Lauren (Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA) ; Corines, Marina (Memorial Sloan-Kettering Cancer Center, New York) ; Robson, Mark (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA) ; Vijai, Joseph (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA) ; Berger, Andreas (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Fink-Retter, Anneliese (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Rappaport, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Kaulich, Daphne Geschwantler (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Pfeiler, Georg (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Tea, Muy-Kheng (Department of Obstetrics and Gynecology, Comprehensive Cancer Center Vienna, Medical University of Vienna, Universitätsklinik für Frauenheilkunde, AKH - Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD USA) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD USA) ; Rennert, Gad (Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, 2 Horev Street, 34362 Haifa, Israel) ; Imyanitov, Evgeny N. (NN Petrov Institute of Oncology, 68 Leningradskaya Street, Pesochny, 197758 St Petersburg Russia) ; Mulligan, Anna Marie (Keenan Research Centre, Li Ka Shing Knowledge Institute, St Michael's Hospital, 209 Victoria Street, Toronto, ON M5B 1T8 Canada) ; Glendon, Gord (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON M5G 1X5 Canada) ; Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto, Medical Science Building, Room 4386, 1 King's College Circle, Toronto, ON M5S 1A8 Canada) ; Tchatchou, Sandrine (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital Joseph and Wolf Lebovic Health Complex, 600 University Avenue, Toronto, ON M5G 1X5 Canada) ; Toland, Amanda Ewart (The Ohio State University Comprehensive Cancer Center - Arthur G James Cancer Hospital and Richard J Solove Research Institute (OSUCCC - James), 460 West 10th Avenue, Columbus, OH 43210 USA) ; Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Kruse, Torben A. (Odense University Hospital (Dinamarca)) ; Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ; Caligo, Maria (Laboratorio di Genetica Oncologica, Divisione di Anatomia Patologica e di Diagnostica Molecolare ed Ultrastrutturale, Azienda Ospedaliero Universitaria Pisana - Ospedale S Chiara, via Roma 67, 56126 Pisa, Italy) ; Friedman, Eitan (Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621 Tel Aviv, Israel) ; Zidan, Jamal (Institute of Oncology, Rivka Ziv Medical Center, Maimonides, 13100 Safed, Israel) ; Laitman, Yael (Sheba Laboratory of Molecular Genetics, The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621 Tel Aviv, Israel) ; Lindblom, Annika (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Melin, Beatrice (Oncology, Department of Radiation Sciences, Umeå University, SE-901 87 Umeå, Sweden) ; Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Loman, Niklas (Division of Oncology and Pathology, Department of Clinical Sciences, Lund University Hospital, Barngatan 2B, SE-221 85 Lund, Sweden) ; Rosenquist, Richard (Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden) ; Olopade, Olufunmilayo I (Center for Clinical Cancer Genetics and Global Health, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637 USA) ; Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, CA USA) ; Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1441 Eastlake Avenue, Norris Comprehensive Cancer Center, NOR-4435, Los Angeles, CA 90089-9175 USA) ; Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA) ; Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA) ; Rebbeck, Timothy R. (Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, 3535 Market Street, Suite 750, Philadelphia, PA 19104-3309 USA) ; Arun, Banu K. (Division of Cancer Medicine, Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Unit 1354, PO Box 301439, Houston, TX 77230-1439 USA) ; Mitchell, Gillian (Sir Peter MacCallum Department of Oncology, The University of Melbourne, Level 5, 161 Barry Street, Parkville, 3010 VIC Australia) ; Karlan, Beth Y (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Orsulic, Sandra (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes) ; Thomas, Gilles (Institut National du Cancer (INCa), La Fondation Synergie Lyon Cancer, Centre Léon Bérard, 28 rue Laënnec, 69008 Lyon, Cedex 08 France) ; Simard, Jacques (Centre de recherche du Centre hospitalier universitaire de Québec, Laval University, Charlesbourg, PQ Canada) ; Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905 USA) ; Offit, Kenneth (Clinical Genetics Research Laboratory, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065 USA) ; Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, QIMR Berghofer, Brisbane, Australia) ; Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Mazoyer, Sylvie (Université Lyon 1, 69100 Villeurbanne, France) ; Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, 12902 Magnolia Drive, Tampa, FL 33612 USA) ; Sinilnikova, Olga M. (Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, 69373 Lyon, Cedex 08 France) ; Cox, David G. (Université Lyon 1, 69100 Villeurbanne, France) ; Universitat Autònoma de Barcelona
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. [...]
2015 - 10.1186/s13058-015-0567-2
Breast cancer research, Vol. 17 (april 2015)  
8.
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)  
9.
13 p, 1009.7 KB Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer / Couch, Fergus J. (Mayo Clinic) ; Kuchenbaecker, Karoline B. (University of Cambridge) ; Michailidou, Kyriaki (University of Cambridge) ; Mendoza-Fandino, Gustavo A. (H. Lee Moffitt Cancer Center and Research Institute) ; Nord, Silje (Oslo University Hospital (Oslo, Noruega)) ; Lilyquist, Janna (Mayo Clinic) ; Olswold, Curtis (Mayo Clinic) ; Hallberg, Emily (Mayo Clinic) ; Agata, Simona (Istituto Oncologico Veneto IOV-IRCCS) ; Ahsan, Habibul (The University of Chicago) ; Aittomäki, Kristiina (Helsinki University Central Hospital) ; Ambrosone, Christine B (Roswell Park Cancer Institute) ; Andrulis, Irene L. (University of Toronto) ; Anton-Culver, Hoda (University of California Irvine) ; Arndt, Volker (German Cancer Research Center) ; Arun, Banu K. (University of Texas MD Anderson Cancer Center) ; Arver, Brita (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Barile, Monica (Istituto Europeo di Oncologia) ; Barkardottir, Rosa B. (Landspitali University Hospital (Islàndia)) ; Barrowdale, Daniel (University of Cambridge) ; Beckmann, Lars (Institute for Quality and Efficiency in Health Care) ; Beckmann, Matthias W. (University Breast Center Franconia) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Blank, Stephanie V. (New York University School of Medicine) ; Blomqvist, Carl (University of Helsinki and Helsinki University Central Hospital) ; Bogdanova, Natalia V. (Hannover Medical School) ; Bojesen, Stig E. (Copenhagen University Hospital) ; Bolla, Manjeet K. (University of Cambridge) ; Bonanni, Bernardo (Istituto Europeo di Oncologia) ; Brauch, Hiltrud (University of Tübingen) ; Brenner, Hermann (German Cancer Research Center and National Center for Tumor Diseases) ; Burwinkel, Barbara (University of Heidelberg) ; Buys, Saundra (University of Utah School of Medicine) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ; Canzian, Federico (German Cancer Research Center) ; Carpenter, Jane (University of Sydney) ; Chang-Claude, Jenny (German Cancer Research Center) ; Chanock, Stephen (Centro Nacional de Investigaciones Oncológicas) ; Chung, Wendy (Columbia University) ; Claes, Kathleen (Ghent University) ; Cox, Angela (University of Sheffield) ; Cross, Simon S. (University of Sheffield) ; Cunningham, Julie M. (Mayo Clinic) ; Czene, Kamila (Karolinska Institutet (Estocolm, Suècia)) ; Daly, Mary B. (Fox Chase Cancer Center) ; Damiola, Francesca (Université Lyon) ; Darabi, Hatef (Karolinska Institutet (Estocolm, Suècia)) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Devilee, Peter (Leiden University Medical Center) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ding, Yuan C. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica)) ; Dolcetti, Riccardo (CRO Aviano National Cancer Institute) ; Domchek, Susan M. (University of Pennsylvania) ; Dorfling, Cecilia M. (University of Pretoria) ; dos-Santos-Silva, Isabel (London School of Hygiene and Tropical Medicine) ; Dumont, Martine (Laval University) ; Dunning, Alison M. (University of Cambridge) ; Eccles, Diana M. (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ; Ehrencrona, Hans (Lund University Hospital) ; Ekici, Arif B. (Comprehensive Cancer Center -EMN) ; Eliassen, Heather (Harvard School of Public Health) ; Ellis, Steve (University of Cambridge) ; Fasching, Peter A. (University Breast Center Franconia) ; Figueroa, Jonine (National Cancer Institute) ; Flesch-Janys, Dieter (University Clinic Hamburg-Eppendorf) ; Försti, Asta (Lund University) ; Fostira, Florentia (Memokritos', Aghia Paraskevi Attikis) ; Foulkes, William D. (McGill University) ; Friebel, Tara (University of) ; Friedman, Eitan (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center) ; Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge) ; Gabrielson, Marike (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Gammon, Marilie D. (Department of Epidemiology, University of) ; Ganz, Patricia A. (UCLA Schools of Medicine and Public Health, Division of Cancer Prevention and Control Research, Jonsson Comprehensive Cancer Center) ; Gapstur, Susan M. (Epidemiology Research Program, American Cancer Society) ; Garber, Judy (Cancer Risk and Prevention Clinic, Dana Farber Cancer Institute) ; Gaudet, Mia M. (Epidemiology Research Program, American Cancer Society) ; Gayther, Simon A. (Department of Biomedical Sciences, Cedars Sinai Medical Center) ; Gerdes, Anne-Marie (Copenhagen University Hospital Rigshospitalet) ; Ghoussaini, Maya (University of Cambridge) ; Giles, Graham G. (Cancer Council Victoria) ; Glendon, Gord (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ; Godwin, Andrew K. (University of Kansas Medical Center) ; Goldberg, Mark S. (Royal Victoria Hospital) ; Goldgar, David E. (University of Utah School of Medicine) ; González-Neira, Anna (Centro Nacional de Investigaciones Oncológicas) ; Greene, Mark H. (Clinical Genetics Branch) ; Gronwald, Jacek (Pomeranian Medical University) ; Guénel, Pascal (Inserm (National Institute of Health and Medical Research)) ; Gunter, Marc (Imperial College London) ; Haeberle, Lothar (University Breast Center Franconia) ; Haiman, Christopher A. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Hamann, Ute (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)) ; Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet) ; Hart, Steven (Department of Health Sciences Research, Mayo Clinic) ; Healey, Sue (Department of Genetics, QIMR Berghofer Medical Research Institute) ; Heikkinen, Tuomas (Helsinki University Central Hospital) ; Henderson, Brian E. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Herzog, Josef (Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Hollestelle, Antoinette (Department of Medical Oncology, Erasmus MC Cancer Institute) ; Hooning, Maartje J. (Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center) ; Hoover, Robert (Division of Cancer Epidemiology and Genetics, National Cancer Institute) ; Hopper, John L. (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Humphreys, Keith (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Hunter, David J. (Program in Molecular and Genetic Epidemiology, Harvard School of Public Health) ; 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) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University) ; James, Paul (Department of Oncology, The University of Melbourne) ; Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine) ; Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California) ; Jones, Michael (Division of Genetics and Epidemiology, Institute of Cancer Research) ; Kabisch, Maria (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)) ; Kar, Siddhartha (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge) ; 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) ; Khaw, Kay-Tee (Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory) ; Kibriya, Muhammad G. (Department of Health Studies, The University of Chicago) ; Knight, Julia A. (Prosserman Centre for Health Research, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ; Ko, Yon-Dschun (Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus) ; Konstantopoulou, Irene (Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis) ; Kosma, Veli-Matti (School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland) ; Kristensen, Vessela (Department of Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet) ; Kwong, Ava (Department of Surgery, The University of Hong Kong) ; Laitman, Yael (Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center) ; Lambrechts, Diether (Vesalius Research Center, VIB) ; Lazaro, Conxi (Institut Català d'Oncologia) ; Lee, Eunjung (Department of Preventive Medicine, University of Southern California) ; Le Marchand, Loic (Cancer Epidemiology Program, University of Cancer Center) ; Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Lindblom, Annika (Karolinska Institutet (Estocolm, Suècia). Department of Molecular Medicine and Surgery) ; Lindor, Noralane (Health Sciences Research, Mayo Clinic) ; Lindstrom, Sara (Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health) ; Liu, Jianjun (Human Genetics Division, Genome Institute of Singapore) ; Long, Jirong (Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health) ; Makalic, Enes (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Malone, Kathleen E. (Department of Epidemiology, School of Public Health and Community Medicine, University of Washington) ; Mannermaa, Arto (School of Medicine, 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 Nazionale Tumori (INT)) ; Margolin, Sara (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Marme, Frederik (Department of Obstetrics and Gynecology, University of Heidelberg) ; Martens, John W. M. (Department of Medical Oncology, Erasmus MC Cancer Institute) ; McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Technical University of Munich) ; Miller, Austin (NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute) ; Milne, Roger L. (Cancer Epidemiology Centre (Melbourne, Austràlia)) ; Miron, Penelope (Department of Genomics and Genome Sciences, Case Western Reserve University Medical School) ; Montagna, Marco (Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV-IRCCS) ; Mazoyer, Sylvie (INSERM U1052, CNRS UMR5286, Université Lyon, Centre de Recherche en Cancérologie de Lyon) ; Mulligan, Anna M. (Department of Laboratory Medicine and Pathobiology, University of Toronto) ; Muranen, Taru A. (Helsinki University Central Hospital) ; Nathanson, Katherine L. (Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania) ; 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) ; Nordestgaard, Børge G. (Copenhagen University Hospital) ; Nussbaum, Robert L. (Invitae Corporation) ; 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) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Park, Sue K. (Department of Preventive Medicine and Biomedical Science, Seoul National University College of Medicine and Cancer Research Institute, Seoul National University) ; Peeters, Petra H. (MRC-PHE Centre for Environment and Health, Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)) ; Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare) ; Peto, Julian (Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine) ; Phelan, Catherine M. (Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute) ; Pilarski, Robert (Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University) ; Poppe, Bruce (Center for Medical Genetics, Ghent University) ; Pylkäs, Katri (Oulu University Hospital (Finlàndia)) ; Radice, Paolo (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT)) ; Rahman, Nazneen (Section of Cancer Genetics, Institute of Cancer Research) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Rappaport, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna) ; Rennert, Gad (Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine) ; Richardson, Andrea (Department of Pathology, Johns Hopkins University School of Medicine) ; Robson, Mark (Department of Medicine, Memorial Sloan-Kettering Cancer Center) ; Romieu, Isabelle (International Agency for Research on Cancer) ; Rudolph, Anja (Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)) ; Rutgers, Emiel J. (Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital) ; Sanchez, Maria-Jose (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ; Santella, Regina M. (Department of Environmental Health Sciences, Columbia University) ; Sawyer, Elinor J. (Research Oncology, Division of Cancer Studies, King's College London, Guy's Hospital) ; Schmidt, Daniel F. (Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne) ; Schmidt, Marjanka K. (Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital) ; Schmutzler, Rita K. (Center for Molecular Medicine Cologne (CMMC), University of Cologne) ; Schumacher, Fredrick (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center) ; Scott, Rodney (Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital) ; Senter, Leigha (Divison of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University) ; Sharma, Priyanka (Department of Hematology and Oncology, University of Kansas Medical Center) ; Simard, Jacques (Centre Hospitalier Universitaire de Québec Research Center, Laval University) ; Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna) ; Sinilnikova, Olga M. (Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon-Centre Léon Bérard) ; Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center, Laval University) ; Southey, Melissa (Department of Pathology, The University of Melbourne) ; Steinemann, Doris (Hannover Medical School) ; Stenmark-Askmalm, Marie (Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes) ; Swerdlow, Anthony (Division of Genetics and Epidemiology, Institute of Cancer Research) ; Szabo, Csilla I. (National Human Genome Research Institute, National Institutes of Health) ; Tamimi, Rulla (Program in Genetic Epidemiology and Statistical Genetics, Harvard School of Public Health) ; Tapper, William (University Hospital Southampton NHS Foundation Trust (Regne Unit)) ; Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), Porto University) ; Teo, Soo-Hwang (University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya) ; Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Thompson, Deborah (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge) ; Tihomirova, Laima (Latvian Biomedical Research and Study Centre) ; Toland, Amanda E. (Department of Molecular Virology, Immunology and Medical Genetics, The Ohio State University) ; Tollenaar, Robert A. E. M. (Department of Surgical Oncology, Leiden University Medical Center) ; Tomlinson, Ian (Wellcome Trust Centre for Human Genetics (Oxford, Regne Unit)) ; Truong, Thérèse (Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer) ; Tsimiklis, Helen (Department of Pathology, The University of Melbourne) ; Teulé, Alex (Institut d'Investigació Biomèdica de Bellvitge) ; Tumino, Rosario (Cancer Registry and Histopathology Unit, 'Civic-M.P. Arezzo' Hospital) ; Tung, Nadine (Department of Medical Oncology, Beth Israel Deaconess Medical Center) ; Turnbull, Clare (Section of Cancer Genetics, Institute of Cancer Research) ; Ursin, Giski (Cancer Registry of Norway, Institute of Population-Based Cancer Research) ; van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center) ; van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Charite Berlin) ; Wang, Zhaoming (Cancer Genomics Research Laboratory, Division of Cancer Epidemiology and Genetics, National Cancer Institute) ; Wang-Gohrke, Shan (University Hospital of Ulm (Alemanya)) ; Weiderpass, Elisabete (Genetic Epidemiology Group, Folkhälsan Research Center) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network) ; Whittemore, Alice (Department of Health Research and Policy-Epidemiology, Stanford University School of Medicine) ; Wildiers, Hans (Multidisciplinary Breast Center, Department of General Medical Oncology, University Hospitals) ; Winqvist, Robert (Oulu University Hospital (Finlàndia)) ; Yang, Xiaohong R. (Division of Cancer Epidemiology and Genetics, National Cancer Institute) ; Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis) ; Yao, Song (Department of Cancer Prevention and Control, Roswell Park Cancer Institute) ; Zamora, M. Pilar (Hospital Universitario La Paz (Madrid)) ; Zheng, Wei (Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine) ; Hall, Per (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ; Kraft, Peter (Department of Biostatistics, Harvard School Of Public Health) ; Vachon, Celine (Department of Health Sciences Research, Mayo Clinic) ; Slager, Susan (Department of Health Sciences Research, Mayo Clinic) ; Chenevix-Trench, Georgia (Cancer Division, QIMR Berghofer Medical Research Institute) ; Pharoah, Paul D. P. (Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge) ; Monteiro, Alvaro A. N. (Cancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute) ; García-Closas, Montserrat (Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health) ; Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge) ; Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge) ; Universitat Autònoma de Barcelona
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P <5 × 10 −8) with oestrogen receptor (ER)-negative breast cancer and BRCA1 -associated breast cancer risk. [...]
2016 - 10.1038/ncomms11375
Nature communications, Vol. 7 (04 2016)  
10.
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)  

Articles : 19 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 1 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  

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