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7 p, 8.6 MB |
Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia
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Errazquin, Ricardo (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Page, Angustias (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Suñol, Anna (Grup de Genètica del Càncer Hereditari. Servei d'Oncologia Mèdica. VHIO) ;
Segrelles, Carmen (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Carrasco, Estela (Grup de Genètica del Càncer Hereditari. Servei d'Oncologia Mèdica. VHIO) ;
Peral, Jorge (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Garrido-Aranda, Alicia (Centro de Investigaciones Médico-Sanitarias (CIMES)) ;
Del Marro, Sonia (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Ortiz, Jessica (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Lorz, Corina (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Minguillon, Jordi (Centro de Investigación Biomédica en Enfermedades Raras (CIBERER)) ;
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Belendez, Cristina (Instituto Investigación Sanitaria Gregorio Marañón) ;
Álvarez, Martina (Centro de Investigaciones Médico-Sanitarias (CIMES)) ;
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ;
Bravo, Ana (Departamento de Anatomía. Producción Animal y Ciencias Clínicas Veterinarias. Laboratorio de Fenotipado de Patología de Ratones Genéticamente Modificados. Facultad de Medicina Veterinaria. Universidad de Santiago de Compostela) ;
Ramirez, Angel (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Garcia-Escudero, Ramon (CIEMAT (Centro de Investigaciones Energéticas. Medioambientales y Tecnológicas). Unidad de Oncología Biomédica) ;
Universitat Autònoma de Barcelona
Fanconi anemia (FA) patients frequently develop oral squamous cell carcinoma (OSCC). This cancer in FA patients is diagnosed within the first 3-4 decades of life, very often preceded by lesions that suffer a malignant transformation. [...]
2022 -  10.1016/j.oraloncology.2022.106184
Oral Oncology, Vol. 134 (november 2022) , p. 106184
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2.
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9 p, 1.9 MB |
Clinical consequences of BRCA2 hypomorphism
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Castells-Roca, Laia (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ;
Bonache, Sandra (Vall d'Hebron Institut d'Oncologia) ;
Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ;
Carrasco, E. (Vall d'Hebron Institut d'Oncologia) ;
Aza-Carmona, Miriam (Institut d'Investigació Biomèdica Sant Pau) ;
Montalban, G. (CHU de Québec - Université Laval Research Center. Oncology division) ;
Muñoz-Subirana, N. (Institut d'Investigació Biomèdica Sant Pau) ;
Pujol, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Cruz Zambrano, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Llop-Guevara, A. (Vall d'Hebron Institut d'Oncologia) ;
Ramírez de Haro, Ma. José (Institut d'Investigació Biomèdica Sant Pau) ;
Saura, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ;
Serra, V. (Vall d'Hebron Institut d'Oncologia) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition. [...]
2021 - 10.1038/s41523-021-00322-9
NPJ breast cancer, Vol. 7 Núm. 1 (december 2021) , p. 117
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3.
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19 p, 3.3 MB |
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers
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Shah, Jennifer B. (University of Pennsylvania) ;
Pueschl, Dana (University of Pennsylvania) ;
Wubbenhorst, Bradley (University of Pennsylvania) ;
Fan, Mengyao (University of Pennsylvania) ;
Pluta, John (University of Pennsylvania) ;
D'Andrea, Kurt (University of Pennsylvania) ;
Hubert, Anna P. (University of Pennsylvania) ;
Shilan, Jake S. (University of Pennsylvania) ;
Zhou, Wenting (University of Pennsylvania) ;
Kraya, Adam A. (University of Pennsylvania) ;
Llop Guevara, Alba (Vall d'Hebron Institut d'Oncologia) ;
Ruan, Catherine (University of Pennsylvania. Perelman School of Medicine) ;
Serra, Violeta (Vall d'Hebron Institut d'Oncologia) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Feldman, Michael (University of Pennsylvania) ;
Morin, Pat J. (University of Pennsylvania) ;
Nayak, Anupma (University of Pennsylvania) ;
Maxwell, Kara N. (University of Pennsylvania) ;
Domchek, Susan M. (University of Pennsylvania) ;
Nathanson, Katherine L. (University of Pennsylvania) ;
Universitat Autònoma de Barcelona
Recurrence is a major cause of death among BRCA1/2 mutation carriers with breast (BrCa) and ovarian cancers (OvCa). Herein we perform multi-omic sequencing on 67 paired primary and recurrent BrCa and OvCa from 27 BRCA1/2 mutation carriers to identify potential recurrence-specific drivers. [...]
2022 - 10.1038/s41467-022-34523-y
Nature communications, Vol. 13 (november 2022)
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4.
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13 p, 765.7 KB |
Male breast cancer in BRCA1 and BRCA2 mutation carriers : pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
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Silvestri, Valentina (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ;
Barrowdale, Daniel (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada) ;
Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ;
Fox, Stephen (Peter MacCallum Cancer Institute, East Melbourne, Australia) ;
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Mitchell, Gillian (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ;
James, Paul (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ;
Thull, Darcy L. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ;
Zorn, Kristin K. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ;
Carter, Natalie J. (UPMC Cancer Center, Pittsburgh, PA USA) ;
Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ;
Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ;
Rebbeck, Timothy R. (Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA) ;
Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA USA) ;
Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, San Francisco, CA USA) ;
Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL USA) ;
Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Yoon, Sook-Yee (University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia) ;
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ;
Spugnesi, Laura (University Hospital of Pisa (Pisa, Itàlia)) ;
Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ;
Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Toland, Amanda Ewart (Department of Molecular Virology, Immunology and Medical Genetics, College of Medicine, The Ohio State University, Columbus, OH USA) ;
Senter, Leigha (Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH USA) ;
Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto, Toronto, ON Canada) ;
Glendon, Gord (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON Canada) ;
Hulick, Peter J. (Center for Medical Genetics, North Shore University Health System, Evanston, IL USA) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St. Petersburg, Russia) ;
Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ;
Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ;
Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Rappaport-Fuerhauser, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ;
Kramer, Gero (Department of Urology, Medical University of Vienna, Vienna, Austria) ;
Vijai, Joseph (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ;
Offit, Kenneth (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ;
Robson, Mark (Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ;
Lincoln, Anne (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ;
Jacobs, Lauren (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ;
Machackova, Eva (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ;
Foretova, Lenka (Masaryk Memorial Cancer Institute and Faculty of Medicine, Masaryk University, Brno, Czech Republic) ;
Navratilova, Marie (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ;
Vasickova, Petra (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ;
Couch, Fergus J. (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ;
Hallberg, Emily (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ;
Ruddy, Kathryn J. (Department of Oncology, Mayo Clinic, Rochester, MN USA) ;
Sharma, Priyanka (Department of Hematology and Oncology, University of Kansas Medical Center, Kansas City, KS USA) ;
Kim, Sung-Won (Department of Surgery, Daerim St. Mary's Hospital, Seoul, Korea) ;
Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal) ;
Pinto, Pedro (Department of Genetics, Portuguese Institute of Oncology, Porto, Portugal) ;
Montagna, Marco (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Matricardi, Laura (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ;
Arason, Adalgeir (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ;
Johannsson, Oskar Th (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Barkardottir, Rosa B. (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ;
Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ;
Izquierdo, Angel (Institut Català d'Oncologia) ;
Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Ivady, Gabriella (Department of Pathology, National Institute of Oncology, Budapest, Hungary) ;
Papp, Janos (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ;
Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ;
Kwong, Ava (Department of Surgery, The University of Hong Kong, Hong Kong, China) ;
Nevanlinna, Heli (Helsinki University Hospital (Finlàndia)) ;
Aittomäki, Kristiina (Helsinki University Hospital (Finlàndia)) ;
Pérez-Segura, Pedro (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Van Maerken, Tom (Center for Medical Genetics, Ghent University, Ghent, Belgium) ;
Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ;
Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ;
Isaacs, Claudine (Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA) ;
Elan, Camille (Department of Tumour Biology, Institut Curie, Paris, France) ;
Lasset, Christine (Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ;
Barjhoux, Laure (INSERM U1052, CNRS UMR5286, Centre de Recherche en Cancérologie de Lyon, Université Lyon, Lyon, France) ;
Belotti, Muriel (Department of Tumour Biology, Institut Curie, Paris, France) ;
Meindl, Alfons (Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany) ;
Gehrig, Andrea (Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany) ;
Sutter, Christian (Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ;
Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany) ;
Niederacher, Dieter (University of Dusseldorf, Dusseldorf, Germany) ;
Steinemann, Doris (Hannover Medical School, Hannover, Germany) ;
Hahnen, Eric (Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany) ;
Kast, Karin (Department of Gynecology and Obstetrics, Technical University of Dresden, Dresden, Germany) ;
Arnold, Norbert (Department of Gynaecolgy and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Kiel, Germany) ;
Varon-Mateeva, Raymonda (Institute of Human Genetics, Charité, Berlin, Germany) ;
Wand, Dorothea (Institute of Human Genetics, Leipzig, Germany) ;
Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS USA) ;
Evans, D. Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK) ;
Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Perkins, Jo (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, UK) ;
Izatt, Louise (Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK) ;
Platte, Radka (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, UK) ;
Eeles, Ros (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ;
Ellis, Steve (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Hamann, Ute (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ;
Garber, Judy (Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA USA) ;
Fostira, Florentia (Molecular Diagnostics Laboratory, Institute of Nuclear and Radiological Sciences and Technology (INRASTES), National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece) ;
Fountzilas, George (Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece) ;
Pasini, Barbara (AO Città della Salute e della Scienza, Turin, Italy) ;
Giannini, Giuseppe (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ;
Rizzolo, Piera (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ;
Russo, Antonio (Section of Medical Oncology, Department of Surgical and Oncological Sciences, University of Palermo, Palermo, Italy) ;
Cortesi, Laura (Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy) ;
Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ;
Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Scientific Institute of Hospitalization and Care), AOU San Martino - IST National Institute for Cancer Research, Genoa, Italy) ;
Palli, Domenico (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ;
Zanna, Ines (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ;
Savarese, Antonella (Unit of Genetic Counselling, Medical Oncology Department, Regina Elena National Cancer Institute, Rome, Italy) ;
Radice, Paolo (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), 20133 Milan, Italy) ;
Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ;
Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ;
Barile, Monica (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ;
Bonanni, Bernardo (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ;
Viel, Alessandra (Division of Experimental Oncology, CRO Aviano National Cancer Institute, Aviano, PN Italy) ;
Pensotti, Valeria (Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ;
Tommasi, Stefania (National Cancer Institute "Giovanni Paolo II", Bari, Italy) ;
Peterlongo, Paolo (IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy) ;
Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA) ;
Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Healey, Sue (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ;
Gerdes, Anne-Marie (Copenhagen University Hospital Rigshospitalet) ;
Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet) ;
Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet) ;
Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ;
Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ;
Tung, Nadine (Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA USA) ;
Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania) ;
Goldgar, David E. (Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ;
Buys, Saundra (Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ;
Daly, Mary B. (Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA USA) ;
Bane, Anita (Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON Canada) ;
Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY USA) ;
John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, CA USA) ;
Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ;
Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Chenevix-Trench, Georgia (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ;
Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK) ;
Ottini, Laura (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ;
Universitat Autònoma de Barcelona
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. [...]
2016 - 10.1186/s13058-016-0671-y
Breast cancer research, Vol. 18 (february 2016)
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5.
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16 p, 1.2 MB |
A RAD51 assay feasible in routine tumor samples calls inhibitor response beyond BRCA mutation
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Castroviejo-Bermejo, Marta (Vall d'Hebron Institut d'Oncologia) ;
Cruz Zambrano, Cristina (Universitat Autònoma de Barcelona) ;
Llop-Guevara, Alba (Vall d'Hebron Institut d'Oncologia) ;
Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ;
Ducy, Mandy (CHUL. Genomics Center) ;
Ibrahim, Yasir Hussein (Vall d'Hebron Institut d'Oncologia) ;
Gris-Oliver, Albert (Vall d'Hebron Institut d'Oncologia) ;
Pellegrino, Benedetta (University Hospital of Parma) ;
Bruna, Alejandra (University of Cambridge) ;
Guzmán, Marta (Vall d'Hebron Institut d'Oncologia) ;
Rodríguez, Olga (Vall d'Hebron Institut d'Oncologia) ;
Grueso, Judit (Vall d'Hebron Institut d'Oncologia) ;
Bonache, Sandra (Vall d'Hebron Institut d'Oncologia) ;
Moles-Fernández, Alejandro (Vall d'Hebron Institut d'Oncologia) ;
Villacampa Javierre, Guillermo (Vall d'Hebron Institut d'Oncologia) ;
Viaplana, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Gómez, Patricia (Vall d'Hebron Institut d'Oncologia) ;
Vidal, Marc (Vall d'Hebron Institut d'Oncologia) ;
Peg, Vicente (Instituto de Salud Carlos III) ;
Serres-Créixams, Xavier (Universitat Autònoma de Barcelona) ;
Dellaire, Graham (Dalhousie University) ;
Simard, Jacques (CHUL. Genomics Center) ;
Nuciforo, Paolo (Vall d'Hebron Institut d'Oncologia) ;
Rubio, Isabel T. (Hospital Universitari Vall d'Hebron) ;
Dientsmann, Rodrigo (Vall d'Hebron Institut d'Oncologia) ;
Barrett, J. Carl (AstraZeneca) ;
Caldas, Carlos (Cancer Research UK (CRUK) Cambridge Cancer Centre) ;
Baselga Torres, Josep 1959-2021 (Memorial Sloan Kettering Cancer Center) ;
Saura, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Cortés, Javier (Vall d'Hebron Institut d'Oncologia) ;
Déas, Olivier (XenTech) ;
Jonkers, Jos (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Masson, Jean-Yves (Laval University Cancer Research Center) ;
Cairo, Stefano (XenTech) ;
Judde, Jean-Gabriel (XenTech) ;
O'Connor, Mark J.. (AstraZeneca) ;
Diez, Orland (Vall d'Hebron Institut d'Oncologia) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Serra, Violeta (Instituto de Salud Carlos III) ;
Universitat Autònoma de Barcelona
Poly(-ribose) polymerase () inhibitors (i) are effective in cancers with defective homologous recombination repair (), including 1/2-related cancers. A test to identify additional -deficient tumors will help to extend their use in new indications. [...]
2018 - 10.15252/emmm.201809172
EMBO Molecular Medicine, Vol. 10 (october 2018)
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6.
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11 p, 362.2 KB |
BARD1 Pathogenic Variants Are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort
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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, Lídia (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)
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4 p, 1018.1 KB |
Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation
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Cedrés, Susana (Hospital Universitari Vall d'Hebron) ;
Felip, Enriqueta (Universitat Autònoma de Barcelona) ;
Cruz, Cristina (Hospital Universitari Vall d'Hebron) ;
Martinez de Castro, Ana (Hospital Universitari Vall d'Hebron) ;
Pardo Aranda, Nuria (Universitat Autònoma de Barcelona) ;
Navarro, Alejandro (Universitat Autònoma de Barcelona) ;
Martinez-Marti, Alex (Universitat Autònoma de Barcelona) ;
Remon, Jordin (Vall d'Hebron Institut d'Oncologia) ;
Zeron-Medina, Jorge (Hospital Universitari Vall d'Hebron) ;
Balmaña Gelpí, Judith (Universitat Autònoma de Barcelona) ;
Llop-Guevara, Alba (Experimental Therapeutic Group) ;
Miquel, Josep M. (Vall d'Hebron Institut d'Oncologia) ;
Sansano, Irene (Pathology Department) ;
Nuciforo, Paolo (Molecular Oncology Group) ;
Mancuso, Francesco M (Cancer Genomic Group) ;
Serra, Violeta (Experimental Therapeutic Group) ;
Vivancos, Ana (Cancer Genomic Group)
Heat shock proteins (HSPs) are molecular chaperones that maintain proteins in their correct conformation to ensure stability and protect carcinoma cells from apoptosis. HSP90 inhibitors (HSP90i) block multiple targets simultaneously, and despite responses in a selected population, no HSP90i have yet been approved. [...]
2018 - 10.1093/jnci/djy012
Journal of the National Cancer Institute, Vol. 110 (february 2018) , p. 914-917
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14 p, 1.9 MB |
The FANCM :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
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Figlioli, Gisella (The FIRC Institute for Molecular Oncology) ;
Bogliolo, Massimo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Catucci, Irene (The FIRC Institute for Molecular Oncology) ;
Caleca, Laura (Istituto Nazionale dei Tumori, Department of Research) ;
Viz Lasheras, Sandra (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Pujol, Roser (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Kiiski, Johanna I. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Muranen, Taru A. (University of Helsinki, Department of Obstetrics and Gynecology) ;
Barnes, Daniel R. (University of Cambridge, Department of Public Health and Primary Care) ;
Dennis, Joe (University of Cambridge, Department of Public Health and Primary Care) ;
Michailidou, Kyriaki (The Cyprus Institute of Neurology & Genetics, Department of Electron Microscopy) ;
Bolla, Manjeet K. (University of Cambridge, Department of Public Health and Primary Care) ;
Leslie, Goska (University of Cambridge, Department of Public Health and Primary Care) ;
Aalfs, Cora M. (Amsterdam UMC, Department of Clinical Genetics) ;
Adank, Muriel A. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Adlard, Julian (Chapel Allerton Hospital) ;
Agata, Simona (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Cadoo, Karen (Memorial Sloan Kettering Cancer Center) ;
Agnarsson, Bjarni A. (University of Iceland, School of Medicine) ;
Ahearn, Thomas (National Cancer Institute) ;
Aittomäki, Kristiina (University of Helsinki, Department of Clinical Genetics) ;
Ambrosone, Christine B. (Roswell Park Cancer Institute) ;
Andrews, Lesley (Nelune Comprehensive Cancer Care Centre) ;
Anton-Culver, Hoda (University of California Irvine, Department of Epidemiology) ;
Antonenkova, Natalia N. (N.N. Alexandrov Research Institute of Oncology and Medical Radiology) ;
Arndt, Volker (German Cancer Research Center) ;
Arnold, Norbert (University Hospital of Schleswig-Holstein, Department of Gynaecology and Obstetrics) ;
Aronson, Kristan J. (Queen's University, Department of Public Health Sciences) ;
Arun, Banu K. (University of Texas, Department of Breast Medical Oncology) ;
Asseryanis, Ella (Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center) ;
Auber, Bernd (Institute of Human Genetics) ;
Auvinen, Päivi (University of Eastern Finland, Translational Cancer Research Area) ;
Azzollini, Jacopo (Fondazione Istituto Nazionale dei Tumori di Milano, Department of Medical Oncology and Hematology) ;
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ;
Barkardottir, Rosa B. (University of Iceland) ;
Barrowdale, Daniel (University of Cambridge, Department of Public Health and Primary Care) ;
Barwell, Julian (Leicester General Hospital (Leicester, Regne Unit)) ;
Beane Freeman, Laura E. (National Cancer Institute) ;
Beauparlant, Charles Joly (Centre Hospitalier Universitaire de Québec - Université Laval) ;
Beckmann, Matthias W. (Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics) ;
Behrens, Sabine (German Cancer Research Center) ;
Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ;
Berger, Raanan (Chaim Sheba Medical Center. The Institute of Oncology) ;
Bermisheva, Marina (Institute of Biochemistry and Genetics) ;
Blanco, Amie M. (University of California San Francisco) ;
Blomqvist, Carl (Örebro University Hospital, Department of Oncology) ;
Bogdanova, Natalia V. (Hannover Medical School) ;
Bojesen, Anders (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Bojesen, Stig E. (University of Copenhagen) ;
Bonanni, Bernardo (IEO, European Institute of Oncology) ;
Borg, Åke (Skåne University Hospital (Suècia)) ;
Brady, Angela F. (London North West University Hospitals) ;
Brauch, Hiltrud (German Cancer Research Center) ;
Brenner, Hermann (German Cancer Research Center) ;
Brüning, Thomas (Institute of the Ruhr University Bochum) ;
Burwinkel, Barbara (University of Heidelberg) ;
Buys, Saundra (Huntsman Cancer Institute, Department of Medicine) ;
Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Caliebe, Almuth (Universitätsklinikum Schleswig-Holstein (Alemanya)) ;
Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ;
Campa, Daniele (University of Pisa, Department of Biology) ;
Campbell, Ian (The University of Melbourne, Department of Oncology) ;
Canzian, Federico (German Cancer Research Center) ;
Castelao, Jose E. (Instituto de Investigación Sanitaria Galicia Sur) ;
Chang-Claude, Jenny (University Medical Center Hamburg-Eppendorf) ;
Chanock, Stephen J. (National Cancer Institute) ;
Claes, Kathleen (Ghent University, Centre for Medical Genetics) ;
Clarke, Christine L. (University of Sydney, Westmead Institute for Medical Research) ;
Collavoli, Anita (University Hospital of Pisa (Pisa, Itàlia)) ;
Conner, Thomas A. (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ;
Cox, David G. (Cancer Research Center of Lyon) ;
Cybulski, Cezary (Pomeranian Medical University, Department of Genetics and Pathology) ;
Czene, Kamila (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Daly, Mary B. (Fox Chase Cancer Center, Department of Clinical Genetics) ;
De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Devilee, Peter (Leiden University Medical Center, Department of Human Genetics) ;
Diez, Orland (Hospital Universitari Vall d'Hebron) ;
Ding, Yuan Chun (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Dite, Gillian S. (The University of Melbourne) ;
Ditsch, Nina (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Domchek, Susan M. (Perelman School of Medicine at the University of Pennsylvania, Department of Medicine) ;
Dorfling, Cecilia M. (University of Pretoria, Department of Genetics) ;
dos-Santos-Silva, Isabel (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Durda, Katarzyna (Pomeranian Medical University, Department of Genetics and Pathology) ;
Dwek, Miriam (University of Westminster, Department of Biomedical Sciences) ;
Eccles, Diana M. (University of Southampton, Cancer Sciences Academic Unit) ;
Ekici, Arif B. (Friedrich-Alexander University Erlangen-Nuremberg) ;
Eliassen, A. Heather (Harvard T.H. Chan School of Public Health, Department of Epidemiology) ;
Ellberg, Carolina (Lund University, Department of Cancer Epidemiology) ;
Eriksson, Mikael (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Evans, D. Gareth (Manchester University NHS Foundation Trust) ;
Fasching, Peter A. (University of California at Los Angeles, Department of Medicine Division of Hematology and Oncology) ;
Figueroa, Jonine (Cancer Research UK Edinburgh Centre) ;
Flyger, Henrik (Copenhagen University Hospital) ;
Foulkes, William D. (McGill University, Departments of Human Genetics and Oncology) ;
Friebel, Tara M. (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Friedman, Eitan (Tel Aviv University) ;
Gabrielson, Marike (Karolinska Institutet (Estocolm, Suècia). Department of Medical Epidemiology and Biostatistics) ;
Gaddam, Pragna (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ;
Gago-Dominguez, Manuela (University of California San Diego) ;
Gao, Chi (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Gapstur, Susan M. (American Cancer Society) ;
Garber, Judy (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
García-Closas, Montserrat (National Cancer Institute) ;
García-Sáenz, José A. (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ;
Gaudet, Mia M. (American Cancer Society) ;
Gayther, Simon A. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Giles, Graham G. (Monash University, Department of Epidemiology and Preventive Medicine) ;
Glendon, Gord (Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital) ;
Godwin, Andrew K. (Kansas University Medical Center, Department of Pathology and Laboratory Medicine) ;
Goldberg, Mark S. (McGill University) ;
Goldgar, David E. (University of Utah School of Medicine, Department of Dermatology) ;
Guénel, Pascal (University Paris-Sud, University Paris-Saclay) ;
Gutierrez-Barrera, Angelica M. (University of Texas, Department of Breast Medical Oncology and Clinical Genetics Program) ;
Haeberle, Lothar (University Hospital Erlangen (Alemanya)) ;
Haiman, Christopher A. (University of Southern California, Department of Preventive Medicine) ;
Håkansson, Niclas (Karolinska Institutet, Institute of Environmental Medicine) ;
Hall, Per (Södersjukhuset, Department of Oncology) ;
Hamann, Ute (German Cancer Research Center) ;
Harrington, Patricia A. (University of Cambridge, Department of Oncology) ;
Hein, Alexander (University Hospital Erlangen (Alemanya)) ;
Heyworth, Jane (The University of Western Australia) ;
Hillemanns, Peter (Hannover Medical School, Gynaecology Research Unit) ;
Hollestelle, Antoinette (Erasmus MC Cancer Institute) ;
Hopper, John L. (The University of Melbourne) ;
Hosgood, H. Dean (Albert Einstein College of Medicine) ;
Howell, Anthony (University of Manchester, Division of Cancer Sciences) ;
Hu, Chunling (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Hulick, Peter J. (The University of Chicago Pritzker School of Medicine) ;
Hunter, David J. (University of Oxford) ;
Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology) ;
Isaacs, Claudine (Georgetown University) ;
Jakimovska, Milena (Macedonian Academy of Sciences and Arts) ;
Jakubowska, Anna (Pomeranian Medical University) ;
James, Paul (Peter MacCallum Cancer Center) ;
Janavicius, Ramunas (State Research Institute Innovative Medicine Center) ;
Janni, Wolfgang (University Hospital of Ulm (Alemanya)) ;
John, Esther M. (Stanford University School of Medicine, Department of Medicine) ;
Jones, Michael E. (The Institute of Cancer Research) ;
Jung, Audrey (German Cancer Research Center) ;
Kaaks, Rudolf (German Cancer Research Center) ;
Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Khusnutdinova, Elza (Bashkir State Medical University, Department of Medical Genetics) ;
Kitahara, Cari M. (National Cancer Institute) ;
Konstantopoulou, Irene (National Centre for Scientific Research 'Demokritos') ;
Koutros, Stella (National Cancer Institute) ;
Kraft, Peter (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ;
Lambrechts, Diether (University of Leuven, Department of Human Genetics) ;
Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge) ;
Le Marchand, Loic (University of Hawaii Cancer Center, Epidemiology Program) ;
Lester, Jenny (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ;
Lesueur, Fabienne (Mines ParisTech) ;
Lilyquist, Jenna (Mayo Clinic, Department of Health Sciences Research) ;
Loud, Jennifer T. (National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics) ;
Lu, Karen H. (University of Texas MD Anderson Cancer Center, Department of Gynecologic Oncology) ;
Luben, Robert N. (University of Cambridge, Department of Public Health and Primary Care) ;
Lubinski, Jan (Pomeranian Medical University, Department of Genetics and Pathology) ;
Mannermaa, Arto (Kuopio University Hospital ( Finlàndia)) ;
Manoochehri, Mehdi (German Cancer Research Center) ;
Manoukian, Siranoush (Istituto Nazionale dei Tumori di Milano) ;
Margolin, Sara (Karolinska Institutet, Department of Clinical Science and Education) ;
Martens, John W. M. (Erasmus MC Cancer Institute) ;
Maurer, Tabea (University Medical Center Hamburg-Eppendorf) ;
Mavroudis, Dimitrios (University Hospital of Heraklion, Department of Medical Oncology) ;
Mebirouk, Noura (Mines ParisTech) ;
Meindl, Alfons (Ludwig Maximilian University of Munich, Department of Gynecology and Obstetrics) ;
Menon, Usha (University College London) ;
Miller, Austin (Roswell Park Cancer Institute) ;
Montagna, Marco (Veneto Institute of Oncology (Pàdua, Itàlia)) ;
Nathanson, Katherine L. (University of Pennsylvania, Department of Medicine) ;
Neuhausen, Susan L. (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Newman, William G. (Manchester University NHS Foundation Trust) ;
Nguyen-Dumont, Tu (The University of Melbourne, Department of Clinical Pathology) ;
Nielsen, Finn Cilius (Copenhagen University Hospital) ;
Nielsen, Sarah (The University of Chicago, Center for Clinical Cancer Genetics) ;
Nikitina-Zake, Liene (Latvian Biomedical Research and Study Centre) ;
Offit, Kenneth (Memorial Sloan-Kettering Cancer Center, Clinical Genetics Service, Department of Medicine) ;
Olah, Edith (National Institute of Oncology, Department of Molecular Genetics) ;
Olopade, Olufunmilayo I. (The University of Chicago) ;
Olshan, Andrew F. (University of North Carolina at Chapel Hill, Department of Epidemiology) ;
Olson, Janet E. (Mayo Clinic, Department of Health Sciences Research) ;
Olsson, Håkan (Lund University, Department of Cancer Epidemiology, Clinical Sciences) ;
Osorio, Ana (Spanish Network on Rare Diseases) ;
Ottini, Laura (University La Sapienza, Department of Molecular Medicine) ;
Peissel, Bernard (Istituto Nazionale dei Tumori di Milano) ;
Peixoto, Ana (Portuguese Oncology Institute, Department of Genetics) ;
Peto, Julian (London School of Hygiene and Tropical Medicine, Department of Non-Communicable Disease Epidemiology) ;
Plaseska-Karanfilska, Dijana (Macedonian Academy of Sciences and Arts) ;
Pocza, Timea (National Institute of Oncology, Department of Molecular Genetics) ;
Presneau, Nadege (University of Westminster, Department of Biomedical Sciences) ;
Pujana, Miquel Angel (Institut d'Investigació Biomèdica de Bellvitge) ;
Punie, Kevin (University Hospitals Leuven (Bèlgica)) ;
Rack, Brigitte (University Hospital of Ulm (Alemanya)) ;
Rantala, Johanna (Karolinska Institutet, Clinical Genetics) ;
Rashid, Muhammad U. (Shaukat Khanum Memorial Cancer Hospital and Research Centre, Department of Basic Sciences) ;
Rau-Murthy, Rohini (Memorial Sloan-Kettering Cancer Center, Department of Medicine) ;
Rennert, Gad (Clalit National Cancer Control Center) ;
Lejbkowicz, Flavio (Clalit National Cancer Control Center) ;
Rhenius, Valerie (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology) ;
Romero, Atocha (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Rookus, Matti A. (The Netherlands Cancer Institute, Department of Epidemiology) ;
Ross, Eric A. (Fox Chase Cancer Center) ;
Rossing, Maria (Copenhagen University Hospital) ;
Rudaitis, Vilius (Vilnius University, Institute of Clinical Medicine) ;
Ruebner, Matthias (University Hospital Erlangen. Friedrich-Alexander University Erlangen-Nuremberg, Department of Gynaecology and Obstetrics) ;
Saloustros, Emmanouil (General University Hospital of Larissa (Grècia)) ;
Sanden, Kristin (University of Wisconsin, Cancer Center at ProHealth Care) ;
Santamariña, Marta (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Scheuner, Maren T. (University of California San Francisco, Cancer Genetics and Prevention Program) ;
Schmutzler, Rita K. (University of Cologne, Center for Molecular Medicine Cologne) ;
Schneider, Michael (University Hospital Erlangen (Alemanya)) ;
Scott, Christopher (Mayo Clinic, Department of Health Sciences Research) ;
Senter, Leigha (The Ohio State University, Department of Internal Medicine) ;
Shah, Mitul (University of Cambridge, Department of Oncology) ;
Sharma, Priyanka (University of Kansas Medical Center, Department of Internal Medicine) ;
Shu, Xiao-Ou (Vanderbilt University School of Medicine, Department of Medicine) ;
Simard, Jacques (Université Laval) ;
Singer, Christian F. (Medical University of Vienna) ;
Sohn, Christof (University of Heidelberg) ;
Soucy, Penny (Université Laval) ;
Southey, Melissa C. (The University of Melbourne, Department of Clinical Pathology) ;
Spinelli, John J. (University of British Columbia, School of Population and Public Health) ;
Steele, Linda (Beckman Research Institute of City of Hope (Duarte, Estats Units d'Amèrica). Department of Population Sciences) ;
Stoppa-Lyonnet, Dominique (Université Paris Descartes) ;
Tapper, William J. (University of Southampton) ;
Teixeira, Manuel R. (University of Porto) ;
Terry, Mary Beth (Columbia University, Department of Epidemiology) ;
Thomassen, Mads (Odense University Hospital (Dinamarca)) ;
Thompson, Jennifer (NorthShore University HealthSystem, Center for Medical Genetics) ;
Thull, Darcy L. (University of Pittsburgh School of Medicine, Department of Medicine) ;
Tischkowitz, Marc (University of Cambridge, Department of Medical Genetics) ;
Tollenaar, Rob A. E. M. (Leiden University Medical Center, Department of Surgery) ;
Torres, Diana (Pontificia Universidad Javeriana) ;
Troester, Melissa A. (University of North Carolina at Chapel Hill) ;
Truong, Thérèse (University Paris-Sud) ;
Tung, Nadine (Beth Israel Deaconess Medical Center, Department of Medical Oncology) ;
Untch, Michael (Helios Clinics Berlin-Buch, Department of Gynecology and Obstetrics) ;
Vachon, Celine M. (Mayo Clinic, Department of Health Sciences Research) ;
van Rensburg, Elizabeth J. (University of Pretoria, Department of Genetics) ;
van Veen, Elke M. (Manchester University NHS Foundation Trust) ;
Vega, Ana (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Viel, Alessandra (Centro di Riferimento Oncologico di Aviano) ;
Wappenschmidt, Barbara (University of Cologne, Center for Molecular Medicine Cologne) ;
Weitzel, Jeffrey N. (City of Hope, Clinical Cancer Genetics) ;
Wendt, Camilla (Karolinska Institutet (Estocolm, Suècia)) ;
Wieme, Greet (Ghent University, Centre for Medical Genetics) ;
Wolk, Alicja (Uppsala University, Department of Surgical Sciences) ;
Yang, Xiaohong R. (National Cancer Institute) ;
Zheng, Wei (Vanderbilt University School of Medicine) ;
Ziogas, Argyrios (University of California Irvine, Department of Epidemiology) ;
Zorn, Kristin K. (University of Pittsburgh School of Medicine) ;
Dunning, Alison M. (University of Cambridge, Department of Oncology) ;
Lush, Michael (University of Cambridge, Department of Public Health and Primary Care) ;
Wang, Qin (University of Cambridge, Department of Public Health and Primary Care) ;
McGuffog, Lesley (University of Cambridge, Department of Public Health and Primary Care) ;
Parsons, Michael T. (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Pharoah, Paul D. P. (University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology) ;
Fostira, Florentia (National Centre for Scientific Research 'Demokritos') ;
Toland, Amanda E. (The Ohio State University, Department of Cancer Biology and Genetics) ;
Andrulis, Irene L. (University of Toronto, Department of Molecular Genetics) ;
Ramus, Susan J. (The Kinghorn Cancer Centre, Garvan Institute of Medical Research) ;
Swerdlow, Anthony J. (The Institute of Cancer Research) ;
Greene, Mark H. (National Cancer Institute, Clinical Genetics Branch) ;
Chung, Wendy K. (Columbia University, Departments of Pediatrics and Medicine) ;
Milne, Roger L. (Monash University) ;
Chenevix-Trench, Georgia (QIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology) ;
Dörk, Thilo (Hannover Medical School) ;
Schmidt, Marjanka K. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
Easton, Douglas F. (University of Cambridge, Department of Oncology) ;
Radice, Paolo (Istituto Nazionale dei Tumori) ;
Hahnen, Eric (University of Cologne) ;
Antoniou, Antonis C. (University of Cambridge, Department of Public Health and Primary Care) ;
Couch, Fergus J. (Mayo Clinic, Department of Laboratory Medicine and Pathology) ;
Nevanlinna, Heli (University of Helsinki, Department of Obstetrics and Gynecology) ;
Surrallés i Calonge, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Peterlongo, Paolo (The FIRC Institute for Molecular Oncology)
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. [...]
2019 - 10.1038/s41523-019-0127-5
NPJ breast cancer, Vol. 5 (November 2019) , art. 38
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Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
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Singer, Christian. F. (Medical University of Vienna) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Bürki, Nicole. (University Hospital Basel (Basilea, Suïssa)) ;
Delaloge, Suzette (Gustave Roussy) ;
Filieri, M. E. (University Hospital of Modena) ;
Gerdes, A. M. (University of Copenhagen) ;
Grindedal, E. M. (Oslo University Hospital (Oslo, Noruega)) ;
Han, Sileny (UZ Leuven) ;
Johansson, Oskar. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Kaufman, Bella. (Sheba Medical Center) ;
Krajc, Mateja. (Institute of Oncology Ljubljana) ;
Loman, Niklas. (Lund University Hospital) ;
Olah, Edith. (National Institute of Oncology) ;
Paluch-Shimon, Shani. (Shaare Zedek Medical Centre) ;
Plavetic, Natalija Dedic (University of Zagreb) ;
Pohlodek, Kamil. (Comenius University of Bratislava) ;
Rhiem, Kerstin. (Uniklinik Köln (Colònia, Alemanya)) ;
Teixeira, Manuel. (Portuguese Oncology Institute) ;
Evans, D. Gareth. (University of Manchester) ;
Universitat Autònoma de Barcelona
An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. [...]
2019 - 10.1016/j.ejca.2018.10.007
European journal of cancer, Vol. 106 (january 2019) , p. 54-60
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RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer
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Cruz, C. (Vall d'Hebron Institut d'Oncologia) ;
Castroviejo-Bermejo, Marta (Experimental Therapeutics Group) ;
Gutiérrez-Enríquez, Sara (Oncogenetics Group) ;
Llop-Guevara, A. (Experimental Therapeutics Group) ;
Ibrahim, Y. H. (Experimental Therapeutics Group) ;
Gris-Oliver, Albert. (Experimental Therapeutics Group) ;
Bonache, Sandra (Oncogenetics Group) ;
Morancho, Beatriz (Vall d'Hebron Institut d'Oncologia) ;
Bruna, Alejandra (Cancer Research UK Cambridge Institute. University of Cambridge) ;
Rueda, O. M. (Cancer Research UK Cambridge Institute. University of Cambridge) ;
Lai, Z. (AstraZeneca (USA)) ;
Polanska, U. M. (Cancer Research UK. Cambridge Institute) ;
Jones, G. N. (Cancer Research UK. Cambridge Institute) ;
Kristel, P. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ;
de Bustos, L. (Experimental Therapeutics Group) ;
Guzmán, Marta (Experimental Therapeutics Group) ;
Rodríguez, O. (Experimental Therapeutics Group) ;
Grueso, Judit (Experimental Therapeutics Group) ;
Montalban, G. (Oncogenetics Group) ;
Caratù, Ginevra (Cancer Genomics Group) ;
Mancuso, Francesco M (Cancer Genomics Group) ;
Fasani, R. (Vall d'Hebron Institut d'Oncologia) ;
Jiménez, J. (Vall d'Hebron Institut d'Oncologia) ;
Howat, W. J. (Cancer Research UK. Cambridge Institute) ;
Dougherty, B. (AstraZeneca (USA)) ;
Vivancos, A. (Cancer Genomics Group) ;
Nuciforo, Paolo (Vall d'Hebron Institut d'Oncologia) ;
Serres-Créixams, X. (Department of Radiology) ;
Rubio Rodríguez, Isabel Teresa (Hospital Universitari Vall d'Hebron) ;
Oaknin, Ana (Vall d'Hebron Institut d'Oncologia) ;
Cadogan, E. (Cancer Research UK. Cambridge Institute) ;
Barrett, J. Carl (AstraZeneca (USA)) ;
Caldas, Carlos (NIHR Cambridge Biomedical Research Centre (Regne Unit)) ;
Baselga Torres, Josep, 1959-2021, (Memorial Sloan Kettering Cancer Center) ;
Saura, Cristina (Vall d'Hebron Institut d'Oncologia) ;
Cortés, Javier (Vall d'Hebron Institut d'Oncologia) ;
Arribas, Joaquín V. (Vicente) (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ;
Jonkers, J. (Cancer Genomics Group) ;
Diez, Orland (Hospital Universitari Vall d'Hebron) ;
O'Connor, M. J. (Oncology Innovative Medicine and Early Development Biotech Unit. AstraZeneca (UK)) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Serra, Violeta (Vall d'Hebron Institut d'Oncologia)
BRCA1 and BRCA2 (BRCA1/2) -deficient tumors display impaired homologous recombination repair (HRR) and enhanced sensitivity to DNA damaging agents or to poly(ADP-ribose) polymerase (PARP) inhibitors (PARPi). [...]
2018 - 10.1093/annonc/mdy099
Annals of oncology, Vol. 29, Issue 5 (May 2018) , p. 1203-1210
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