Resultats globals: 6 registres trobats en 0.02 segons.
Articles, 6 registres trobats
Articles 6 registres trobats  
1.
11 p, 1.8 MB Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1 / Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Quiles, Paco (Catalan Institute of Oncology) ; Ruiz de Garibay G. (Institut Català d'Oncologia)ge) ; Aza-Carmona, Miriam (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Prados-Carvajal, Rosario (Universidad de Sevilla. Departamento de Genética) ; Fernández-Rodríguez, Juana (Institut d'Investigació Biomèdica de Bellvitge) ; García, Nadis (Institut Català d'Oncologia) ; López, Adrià (Institut Català d'Oncologia) ; Gutiérrez-Enríquez, Sara (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Benítez, Javier (Centro de Investigación biomédica en red de enfermedades raras) ; Salinas, Mónica (Institut Català d'Oncologia) ; Teulé, Àlex (Institut Català d'Oncologia) ; Brunet, Joan (Institut Català d'Oncologia) ; Radice, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Peterlongo, Paolo (Istituto Nazionale dei Tumori (Milà)) ; Schindler, Detlev (Universität Würzburg. Department of Human Genetics) ; Huertas, Pablo (Universidad de Sevilla. Departamento de Genética) ; Puente, Xose P. (Universidad de Oviedo. Department de Bioquímica y Biología Molecular) ; Lázaro, Coxi (Institut Català d'Oncologia) ; Pujana. Miguel Ángel (Institut Català d'Oncologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
BRCA1 is a tumor suppressor that regulates DNA repair by homologous recombination. Germline mutations in BRCA1 are associated with increased risk of breast and ovarian cancer and BRCA1 deficient tumors are exquisitely sensitive to poly (ADP-ribose) polymerase (PARP) inhibitors. [...]
2018 - 10.1038/s41467-018-03433-3
Nature Communications, Vol. 9 (2018) , art. 967  
2.
12 p, 371.6 KB DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers / Osorio, Ana (Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain) ; Milne, Roger L. (Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia) ; Kuchenbaecker, Karoline (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Vaclová, Tereza (Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Pita, Guillermo (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Alonso, Rosario (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Peterlongo, Paolo (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; de la Hoya, Miguel (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain) ; Duran, Mercedes (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Díez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ramón y Cajal, Teresa (Institut d'Investigacions Biomèdiques Sant Pau) ; Konstantopoulou, Irene (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Martínez-Bouzas, Cristina (Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain) ; Andrés Conejero, Raquel (Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain) ; Soucy, Penny (Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ; McGuffog, Lesley (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Barrowdale, Daniel (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Lee, Andrew (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; SWE-BRCA, None (Department of Oncology, Lund University, Lund, Sweden) ; Arver, Brita (Department of Oncology, Karolinska University Hospital, Stockholm, Sweden) ; Rantala, Johanna (Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden) ; Loman, Niklas (Department of Oncology, Lund University Hospital, Lund, Sweden) ; Ehrencrona, Hans (Department of Clinical Genetics, Lund University Hospital, Lund, Sweden) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America) ; Beattie, Mary S. (Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America) ; Domchek, Susan M. (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; Nathanson, Katherine (Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America) ; 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) ; Arun, Banu K. (University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America) ; Karlan, Beth Y. (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Walsh, Christine (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; Lester, Jenny (Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America) ; Whittemore, Alice S. (Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America) ; Daly, Mary B. (Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America) ; Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ; Hopper, John (Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia) ; Terry, Mary B. (Department of Epidemiology, Columbia University, New York, New York, United States of America) ; Buys, Saundra S. (Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania) ; Dorfling, Cecilia M. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; van Rensburg, Elizabeth J. (Department of Genetics, University of Pretoria, Pretoria, South Africa) ; Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America) ; Hansen, Thomas v. O. (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Jønson, Lars (Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Ejlertsen, Bent (Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Gerdes, Anne-Marie (Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark) ; Infante, Mar (Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain) ; Herráez, Belén (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Moreno, Leticia Thais (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Herzog, Josef (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Weeman, Kisa (Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Zaffaroni, Daniela (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Scuvera, Giulietta (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy) ; Mariette, Frederique (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Volorio, Sara (IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Viel, Alessandra (Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy) ; Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy) ; Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ; Ottini, Laura (Department of Molecular Medicine, “Sapienza” University, Rome, Italy) ; Tibiletti, Maria Grazia (UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy) ; Radice, Paolo (Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy) ; Yannoukakos, Drakoulis (Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece) ; Garber, Judy (Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America) ; Ellis, Steve (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Frost, Debra (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Platte, Radka (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Fineberg, Elena (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Lalloo, Fiona (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom) ; Izatt, Louise (South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom) ; Eeles, Ros (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom) ; Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, United Kingdom) ; Davidson, Rosemarie (Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom) ; Cole, Trevor (West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom) ; Eccles, Diana (Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom) ; Cook, Jackie (Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom) ; Hodgson, Shirley (Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom) ; Brewer, Carole (Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom) ; Tischkowitz, Marc (Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom) ; Douglas, Fiona (Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom) ; Porteous, Mary (South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom) ; Side, Lucy (North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom) ; Walker, Lisa (Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom) ; Morrison, Patrick (Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom) ; Donaldson, Alan (South West Regional Genetics Service, Bristol, United Kingdom) ; Kennedy, John (Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire) ; Foo, Claire (Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America) ; Schmutzler, Rita Katharina (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Wappenschmidt, Barbara (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Rhiem, Kerstin (Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Ditsch, Nina (Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany) ; Arnold, Norbert (Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Plendl, Hans Jörg (Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany) ; Niederacher, Dieter (Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany) ; Sutter, Christian (Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ; Wang-Gohrke, Shan (Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany) ; Steinemann, Doris (Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany) ; Preisler-Adams, Sabine (Institute of Human Genetics, University of Münster, Münster, Germany) ; Kast, Karin (Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany) ; Gehrig, Andrea (Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Sinilnikova, Olga M. (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Mazoyer, Sylvie (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Damiola, Francesca (INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France) ; Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Piedmonte, Marion (Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America) ; Tucker, Kathy (Prince of Wales Hospital. Sydney, Australia) ; Backes, Floor (Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America) ; Rodríguez, Gustavo (Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America) ; Brewster, Wendy (Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America) ; Wakeley, Katie (For Tufts Medical Center, Boston, Massachusetts, United States of America) ; Rutherford, Thomas (Yale University School of Medicine, New Haven, Connecticut, United States of America) ; Caldés, Trinidad (Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain) ; Nevanlinna, Heli (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Aittomäki, Kristiina (Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland) ; Rookus, Matti A. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; van Os, Theo A. M. (Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands) ; van der Kolk, Lizet (Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; de Lange, J. L. (Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Meijers-Heijboer, Hanne E. J. (Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands) ; van der Hout, A. H. (University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands) ; van Asperen, Christi J. (Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands) ; Gómez Garcia, Encarna B. (Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands) ; Hoogerbrugge, Nicoline (Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands) ; Collée, J. Margriet (Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van Deurzen, Carolien H. M. (Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands) ; van der Luijt, Rob B. (Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands) ; Devilee, Peter (Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands) ; HEBON, None (The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Lázaro, Conxi (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Teulé, Alex (Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Menéndez, Mireia (Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Cybulski, Cezary (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Gronwald, Jacek (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Durda, Katarzyna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Jaworska-Bieniek, Katarzyna (Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland) ; Johannsson, Oskar Th. (Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland) ; Maugard, Christine (Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France) ; Montagna, Marco (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy) ; Tognazzo, Silvia (Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy) ; Teixeira, Manuel R. (Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal) ; Healey, Sue (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Investigators, kConFab (Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia) ; Olswold, Curtis (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Guidugli, Lucia (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Lindor, Noralane (Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America) ; Slager, Susan (Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America) ; Szabo, Csilla I. (Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America) ; Vijai, Joseph (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Robson, Mark (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Kauff, Noah (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Zhang, Liying (Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Rau-Murthy, Rohini (Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Fink-Retter, Anneliese (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Singer, Christian F. (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Rappaport, Christine (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Geschwantler Kaulich, Daphne (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Pfeiler, Georg (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Tea, Muy-Kheng (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Berger, Andreas (Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Phelan, Catherine M. (Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America) ; Lejbkowicz, Flavio (Clalit National Israeli Cancer Control Center, Haifa, Israel) ; Andrulis, Irene (Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada) ; Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada) ; Glendon, Gord (Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada) ; Toland, Amanda Ewart (Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ; Pedersen, Inge Sokilde (Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark) ; Sunde, Lone (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Thomassen, Mads (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Kruse, Torben A. (Department of Clinical Genetics, Odense University Hospital, Odense, Denmark) ; Jensen, Uffe Birk (Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark) ; Friedman, Eitan (Sheba Medical Center, Tel Aviv, Israel) ; Laitman, Yael (Sheba Medical Center, Tel Aviv, Israel) ; Shimon, Shani Paluch (Sheba Medical Center, Tel Aviv, Israel) ; Simard, Jacques (Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada) ; Easton, Douglas F. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Offit, Kenneth (Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America) ; Couch, Fergus J. (Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America) ; Chenevix-Trench, Georgia (Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia) ; Antoniou, Antonis C. (Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom) ; Benitez, Javier (Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain)
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. [...]
2014 - 10.1371/journal.pgen.1004256
PLoS Genetics, Vol. 10 (april 2014)  
3.
21 p, 1.7 MB Individuals with FANCM biallelic mutations do no develop Fanconi anemia, but show risk for breast cancer, chemotherapy sensitivity toxicity and may display chromosome fragility / Catucci, Irene (Fondazione Italiana per la Ricerca sul Cancro) ; Osorio, Ana (Centro Nacional de Investigaciones Oncológicas Carlos III) ; Arver, Brita (Karolinska Institutet) ; Neidhardt, Guido (Centrum für Integrierte Onkologie) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i Microbiologia) ; Zanardi, Federica (Fondazione Italiana per la Ricerca sul Cancro) ; Riboni, Mirko (Fondazione Italiana per la Ricerca sul Cancro) ; Minardi, Simone (Fondazione Italiana per la Ricerca sul Cancro) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Azzollini, Jacopo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Peissel, Bernard (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Manoukian, Siranoush (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Vecchi, De, Giovanna (Fondazione Italiana per la Ricerca sul Cancro) ; Casola, Stefano (Fondazione Italiana per la Ricerca sul Cancro) ; Hauke, Jan (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Richters, Lisa (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Rhiem, Kerstin (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Schmutzler, Rita K. (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Wallander,Karin (Karolinska Institutet) ; Törngren, Therese (University of Lund. Department of Clinical Sciences) ; Borg, Åke (University of Lund. Department of Clinical Sciences) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale dei Tumori Foundation) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hahnen, Eric (Universität zu Köln. Zentrum für Molekulare Medizin Köln) ; Ehrencrona, Hans (University of Lund. Department of Clinical Genetics) ; Kvist, Anders (University of Lund. Department of Clinical Sciences) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Peterlongo, Paolo (Fondazione Italiana per la Ricerca sul Cancro)
PurposeMonoallelic germ-line mutations in the BRCA1/FANCS, BRCA2/FANCD1 and PALB2/FANCN genes confer high risk of breast cancer. Biallelic mutations in these genes cause Fanconi anemia (FA), characterized by malformations, bone marrow failure, chromosome fragility, and cancer predisposition (BRCA2/FANCD1 and PALB2/FANCN), or an FA-like disease presenting a phenotype similar to FA but without bone marrow failure (BRCA1/FANCS). [...]
2017 - 10.1038/gim.2017.123
Genetics in Medicine, Vol. 20 (April 2018) p. 452–457  
4.
13 p, 1.5 MB Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles / Osorio, Ana (Centro Nacional de Investigaciones Oncológicas) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Fernández, Victoria (Centro Nacional de Investigaciones Oncológicas) ; Barroso, Alicia (Centro Nacional de Investigaciones Oncológicas) ; De la Hoya, Miguel (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldés, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Lasa, Adriana (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Servei de Genètica) ; Ramón y Cajal, Teresa (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya). Servei d'Oncologia) ; Santamariña, Marta (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vega, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Quiles, Francisco (Institut Català d'Oncologia) ; Lázaro, Conxi (Institut Català d'Oncologia) ; Díez, Orland (Vall d'Hebron Institut d'Oncologia) ; Fernández, Daniel (Instituto de Biología Molecular y Celular del Cancer) ; González-Sarmiento, Rogelio (Instituto de Biología Molecular y Celular del Cancer) ; Durán, Mercedes (Universidad de Valladolid. Instituto de Biología y Genética Molecular) ; Fernández Piqueras, José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Marín, Maria (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Benítez, Javier (Centro de Investigación biomédica en red de enfermedades raras)
Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. [...]
2013 - 10.1002/humu.22438
Human mutation, Vol. 34, issue 12 (Dec. 2013) , p.1615-8  
5.
29 p, 2.6 MB Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia / Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Schuster, Beatrice (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Stoepker, Chantal (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Derkunt, Burak (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Su, Yan (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Raams, Anja (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Trujillo Quintero, Juan Pablo (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Minguillón, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol i Calvet, M. Roser (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia) ; Casado, José A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Baños, Rocío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Knies, Kerstin (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya))) ; Zúñiga, Sheila (Sistemas Genómicos. Departamento de Bioinformática) ; Benítez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bueren, Juan A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Jaspers, Nicolaas G.J. (Erasmus MC Universitair Medisch Centrum Rotterdam) ; Schärer, Orlando D. (State University of New York at Stony Brook. Department of Pharmacological Sciences and Chemistry) ; Winter, Johan P. de (Vrije Universiteit Medical Center. Department of Clinical Genetics and Human Genetics) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Surrallés i Calonge, Jordi (Universitat Autonoma de Barcelona. Departament de Genètica i de Microbiologia)
BFanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). [...]
2013 - 10.1016/j.ajhg.2013.04.002
American journal of human genetics, Vol. 92 (May 2013) , p. 800-806  
6.
14 p, 2.9 MB Exploring the link between MORF4L1 and risk of breast cancer / Martrat, Griselda (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Maxwell, Christopher A. (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Tominaga, Emiko (The University of Texas Health Science Center at San Antonio) ; Porta de la Riva, Montserrat (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Bonifaci, Núria (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Gomez-Baldo, Laia (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Lazaro, Conxi (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Blanco, Ignacio (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Brunet, Joan (Hospital Joan Trueta (Girona, Catalunya)) ; Aguilar, Helena (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Fernandez-Rodriguez, Juana (Hospital Joan Trueta (Girona, Catalunya)) ; Seal, Sheila (Institute of Cancer Research (Sutton, Regne Unit)) ; Renwick, Anthony (Institute of Cancer Research (Sutton, Regne Unit)) ; Rahman, Nazneen (Institute of Cancer Research (Sutton, Regne Unit)) ; Kühl, Julia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Neveling, Kornelia (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Schindler, Detlev (University of Würzburg. Department of Human Genetics (Würzburg, Alemanya)) ; Ramírez de Haro, Ma. José (María José) (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castellà, María (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Easton, Douglas F. (University of Cambridge. Department of Public Health and Primary Care) ; Peock, Susan (University of Cambridge. Department of Public Health and Primary Care) ; Cook, Margaret (University of Cambridge. Department of Public Health and Primary Care) ; Oliver, Clare T. (University of Cambridge. Department of Public Health and Primary Care) ; Frost, Debra (University of Cambridge. Department of Public Health and Primary Care) ; Platte, Radka (University of Cambridge. Department of Oncology,) ; Evans, D. Gareth (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Lalloo, Fiona (Central Manchester University Hospitals NHS Foundation Trust (Manchester, Regne Unit)) ; Eeles, Rosalind (The Institute of Cancer Research (Sutton, Regne Unit)) ; Izatt, Louise (Guy's and St Thomas NHS Foundation Trust (Londres, Regne Unit)) ; Chu, Carol (Yorkshire Regional Genetics Service (Leeds, Regne Unit)) ; Davids, Rosemarie (Ferguson-Smith Centre for Clinical Genetics (Glasgow, Regne Unit)) ; Ong, Kai-Ren (Birmingham Women's Hospital Healthcare NHS Trust (Birmingham, Regne Unit)) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Douglas, Fiona (Newcastle Upon Tyne Hospitals NHS Trust (Newcastle, Regne Unit)) ; Hodgson, Shirley (University of London. St George's Hospital. Clinical Genetics Department) ; Brewer, Carole (Royal Devon & Exeter Hospital (Exeter, Regne Unit)) ; Morrison, Patrick J. (Northern Ireland Regional Genetics Centre (Belfast, Regne Unit)) ; Porteous, Mary (South East of Scotland Regional Genetics Service (Edimburg, Regne Unit)) ; Peterlongo, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Manoukian, Siranoush (Fondazione IRCCS INT (Milà, Itàlia)) ; Peissel, Bernard (Fondazione IRCCS INT (Milà, Itàlia)) ; Zaffaroni, Daniela (Fondazione IRCCS INT (Milà, Itàlia)) ; Roversi, Gaia (Fondazione IRCCS INT (Milà, Itàlia)) ; Barile, Monica (Istituto Europeo di Oncologia (Milà, Itàlia)) ; Viel, Alessandra (Centro di Riferimento Oncologico (Aviano, Itàlia)) ; Pasini, Barbara (University of Turin. Department of Genetics, Biology and Biochemistry (Torí, Itàlia)) ; Ottini, Laura (Sapienza University of Rome. Department of Molecular Medicine) ; Putignano, Anna Laura (University of Florence. Department of Clinical Physiopathology (Florència, Itàlia)) ; Savarese, Antonella (Regina Elena Cancer Institute (Roma, Itàlia)) ; Bernard, Loris (IEO. Department of Experimental Oncology (Milà, Itàlia)) ; Radice, Paolo (Fondazione IRCCS Istituto Nazionale Tumori (Milà, Itàlia)) ; Healey, Sue (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Spurdle, Amanda (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Chen, Xiaoqing (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Beesley, Jonathan (Queensland Institute of Medical Research. Division of Genetics and Population Health (Brisbane, Austràlia)) ; Rookus, Matti A. (The Netherlands Cancer Institute. Department of Epidemiology (Amsterdam, Països Baixos)) ; Verhoef, Senno (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Tilanus-Linthorst, Madeleine A. (Erasmus MC-Daniel den Hoed Cancer Center (Rotterdam, Països Baixos)) ; Vreeswijk, Maaike P. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Asperen, Christi J. (Leiden University Medical Center. Center for Human and Clinical Genetics (Leiden, Països Baixos)) ; Bodmer, Danielle (Radboud University Nijmegen Medical Center. Department of Human Genetics (Nijmegen, Països Baixos)) ; Ausems, Margreet G. E. M. (University Medical Center Utrecht. Department of Medical Genetics (Utrecht, Països Baixos)) ; van Os, Theo A. (Academic Medical Center, Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Blok, Marinus J. (University Hospital Maastricht. Department of Clinical Genetics (Maastricht, Països Baixos)) ; Meijers-Heijboer, Hanne E. J. (VU Medical Center. Department of Clinical Genetics (Amsterdam, Països Baixos)) ; Hogervorst, Frans B. L. (The Netherlands Cancer Institute. Family Cancer Clinic (Amsterdam, Països Baixos)) ; Goldgar, David E. (University of Utah School of Medicine. Department of Dermatology (Salt Lake City, Estats Units d'Amèrica)) ; Buys, Saundra (Huntsman Cancer Institute (Salt Lake City, Estats Units d'Amèrica)) ; John, Esther M. (Cancer Prevention Institute of California (Fremont, Estats Units d'Amèrica)) ; Miron, Alexander (Dana-Farber Cancer Institute. Department of Cancer Biology (Boston, Estats Units d'Amèrica)) ; Southey, Melissa (The University of Melbourne. Melbourne School of Population Health (Austràlia)) ; Daly, Mary B. (Fox Chase Cancer Center. Division of Population Science (Philadelphia, Estats Units d'Amèrica)) ; Harbst, Katja (Lund University. Department of Oncology (Lund, Suècia)) ; Borg, Åke (Lund University. Department of Oncology (Lund, Suècia)) ; Rantala, Johanna (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Barbany-Bustinza, Gisela (Karolinska University Hospital. Department of Clinical Genetics (Estocolm, Suècia)) ; Ehrencrona, Hans (Uppsala University. Departament of Genetics and Pathology (Uppsala, Suècia)) ; Stenmark-Askmalm, Marie (Hälsouniversitetet Universitetssjukhuset. Department of Oncology (Linköping, Suècia)) ; Kaufman, Bella (Chaim Sheba Medical Center. The Institute of Oncology (Ramat Gan, Israel)) ; Laitman, Yael (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Milgrom, Roni (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Friedman, Eitan (Chaim Sheba Medical Center. The Susanne Levy Gertner Oncogenetics Unit (Ramat Gan, Israel)) ; Domchek, Susan M. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Nathanson, Katherine L. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Rebbeck, Timothy R. (University of Pennsylvania School of Medicine. Abramson Cancer Center (Philadelphia, Estats Units d'Amèrica)) ; Johannsson, Oskar Thor (20A Landspitali-LSH v/Hringbraut. Department of Oncology (Reykjavik, Islàndia)) ; Couch, Fergus J. (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Wang, Xianshu (Mayo Clinic. Department of Laboratory Medicine and Pathology (Rochester, Estats Units d'Amèrica)) ; Fredericksen, Zachary (Mayo Clinic. Department of Health Sciences Research (Rochester, Estats Units d'Amèrica)) ; Cuadras, Daniel (Institut d'Investigació Biomèdica de Bellvitge. Statistical Assessment Service (L'Hospitalet del Llobregat, Catalunya)) ; Moreno, Víctor (South East of Scotland Regional Genetics Service, Western General Hospital (Edimburg, Regne Unit)) ; Pientka, Friederike K. (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Depping, Reinhard (University of Lübeck. Center for Structural and Cell Biology in Medicine (Lübeck, Alemanya)) ; Caldés, Trinidad (Hospital Clínico San Carlos. Medical Oncology Branch (Madrid, Espanya)) ; Osorio, Ana (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya)) ; Benítez, Javier (Spanish National Cancer Research Centre. Human Cancer Genetics Programme (Madrid, Espanya)) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales, y Tecnológicas (Madrid, Espanya)) ; Heikkinen, Tuomas (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Tominaga, Kaoru (The University of Texas Health Science Center at San Antonio) ; Cerón, Julián (Institut d'Investigació Biomèdica de Bellvitge (L'Hospitalet del Llobregat, Catalunya)) ; Antoniou, Antonis C. (University of Cambridge. Department of Public Health and Primary Care) ; Fert Ferrer, Sandra (Hôtel Dieu Centre Hospitalier (Chambéry, França)) ; Collonge-Rame, Marie-Agnès (Centre Hospitalier Universitaire de Besançon (Besançon, França)) ; Mortemousque, Isabelle (Centre Hospitalier Universitaire Bretonneau (Tours, França)) ; McGuffog, Lesley (University of Cambridge. Department of Public Health and Primary Care) ; Chenevix-Trench, Georgia (Queensland Institute of Medical Research (Brisbane, Austràlia)) ; Pereira-Smith, Olivia M. (The University of Texas Health Science Center at San Antonio) ; Nevanlinna, Heli (Helsinki University Central Hospital. Department of Obstetrics and Gynecology (Helsinki, Finlàndia)) ; Hamann, Ute (Deutsches Krebsforschungszentrum (Heidelberg, Alemanya)) ; Torres, Diana (Pontificia Universidad Javeriana. Instituto de Genética Humana (Bogota, Colòmbia)) ; Caligo, Maria Adelaide (University Hospital of Pisa. Section of Genetic Oncology (Pisa, Itàlia)) ; Godwin, Andrew K. (University of Kansas Medical Center. Department of Pathology and Laboratory MedicineCenter (Kansas, Estats Units d'Amèrica)) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology. Laboratory of Molecular Oncology (Sant Petersburg, Rússia)) ; Janavicius, Ramunas (Vilnius University Hospital Santariskiu Clinics. Hematology, Oncology and Transfusion Medicine Center (Vilnius, Lituània)) ; Sinilnikova, Olga M. (Centre Hospitalier Universitaire de Lyon. Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents (Lyon, França)) ; Stoppa-Lyonnet, Dominique (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; Mazoyer, Sylvie (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Verny-Pierre, Carole (Université Lyon 1. Cancer Research Center of Lyon (Lyon, França)) ; Castera, Laurent (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; de Pauw, Antoine (Institut Curie. Service de Génétique Oncologique (Paris, França)) ; Bignon, Yves-Jean (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Uhrhammer, Nancy (Université de Clermont-Ferrand. Département d'Oncogénétique (Clermont-Ferrand, França)) ; Peyrat, Jean-Philippe (Centre Oscar Lambret. Laboratoire d'Oncologie Moléculaire Humaine (Lille, França)) ; Vennin, Philippe (Centre Oscar Lambret. Consultation d'Oncogénétique (Lille, França)) ; The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) ; The Netherlands Cancer Institute. Hereditary Breast and Ovarian Cancer Group (HEBON) ; University of Utah School of Medicine. Breast Cancer Family Registry (Salt Lake City, Estats Units d'Amèrica) ; Lund University. Swedish Breast Cancer Study (Lund, Suècia) ; Fédération Nationale des Centres de Lutte Contre le Cancer. Groupe Génétique et Cancer (Lyon, França)
Introduction: Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens. [...]
2011 - 10.1186/bcr2862
Breast cancer research, Vol. 13, Núm. R40 (4 2011) -14  

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