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17 p, 1.4 MB Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia / Casado, José A (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Valeri, A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sanchez-Dominguez, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vela, P. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Lopez, A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Navarro, S. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Alberquilla, Omaira (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Hanenberg, H. (Heinrich Heine University. Department of Otorhinolaryngology and Head and Neck Surgery) ; Pujol, Roser (Institut d'Investigació Biomèdica Sant Pau) ; Segovia, J. C. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Minguillon, J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; De Heredia, C.D. (Vall d'Hebron Institut d'Oncologia) ; Sevilla, J. (Hospital Nino Jesus) ; Rio, P. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Fanconi anemia (FA) is the most prevalent inherited bone marrow failure (BMF) syndrome. Nevertheless, the pathophysiological mechanisms of BMF in FA have not been fully elucidated. Since FA cells are defective in DNA repair, we hypothesized that FA hematopoietic stem and progenitor cells (HSPCs) might express DNA damage-associated stress molecules such as natural killer group 2 member D ligands (NKG2D-Ls). [...]
2022 - 10.1172/JCI142842
The journal of clinical investigation, Vol. 132 Núm. 15 (january 2022) , p. e142842  
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9 p, 1.9 MB Clinical consequences of BRCA2 hypomorphism / Castells-Roca, Laia (Institut d'Investigació Biomèdica Sant Pau) ; 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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15 p, 2.5 MB CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival / Minguillón Pedreño, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Ramírez de Haro, Ma. José (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Rovirosa Mulet, Llorenç (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bustamante-Madrid, Pilar (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Camps-Fajol, Cristina (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; de Garibay, Gorka Ruiz (Institut Català d'Oncologia) ; Shimelis, Hermela (Mayo Clinic) ; Montanuy Escribano, Helena (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol, Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hernández Viedma, Gonzalo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Castillo, Pau (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Soucy, Penny (Centre Hospitalier Universitaire de Québec Research Center and Laval University) ; Martrat, Griselda (Institut Català d'Oncologia) ; Gómez Moruno, Antonio (Institut d'Investigació Biomèdica de Bellvitge) ; Cuadras, Daniel (Institut Català d'Oncologia) ; García, María J (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Gayarre, Javier (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Lazaro Garcia, Conxi (Institut Català d'Oncologia) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya)) ; Couch, Fergus J. (Mayo Clinic) ; Pujana, Miquel Ángel (Institut Català d'Oncologia) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau)
BRCA2 is essential for homologous recombination DNA repair. BRCA2 mutations lead to genome instability and increased risk of breast and ovarian cancer. Similarly, mutations in BRCA2-interacting proteins are also known to modulate sensitivity to DNA damage agents and are established cancer risk factors. [...]
2022 - 10.3390/cancers14020353
Cancers, Vol. 14 Núm. 2 (1-2 2022) , p. 353  
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14 p, 2.3 MB TALEN mediated gene editing in a mouse model of Fanconi anemia / Pino-Barrio, Maria José (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Giménez, Yari (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Villanueva, Mariela (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Hildenbeutel, Marcus (University of Freiburg. Center for Chronic Immunodeficiency - Medical Center) ; Sánchez-Dominguez, Rebeca (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Perales, Sandra (Centro Nacional de Investigaciones Oncológicas. Grupo de Citogenética Molecular) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Cathomen, Toni (University of Freiburg. Center for Chronic Immunodeficiency - Medical Center) ; Mussolino, Claudio (University of Freiburg. Center for Chronic Immunodeficiency - Medical Center) ; Bueren, Juan (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Navarro Ordóñez, Susanna (Centro de Investigación Biomédica en Red de Enfermedades Raras)
The promising ability to genetically modify hematopoietic stem and progenitor cells by precise gene editing remains challenging due to their sensitivity to in vitro manipulations and poor efficiencies of homologous recombination. [...]
2020 - 10.1038/s41598-020-63971-z
Scientific reports, Vol. 10 (April 2020) , art. 6997  
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10 p, 841.7 KB Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes / Sevilla, Julián (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Navarro Ordóñez, Susanna (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Río, Paula (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sánchez-Domínguez, Rebeca (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Zubicaray, Josune (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Gálvez, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Merino, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Sebastián, Elena (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Azqueta, Carmen (Banc de Sang i Teixits de Catalunya) ; Casado, José A. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Segovia, José C. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Alberquilla, Omaira (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Román-Rodríguez, Francisco J. (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Giménez, Yari (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Larcher, Lise (Université de Paris. Institut de Recherche Saint-Louis) ; Salgado Sánchez, Rocío Nieves (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Pujol, Roser M. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Hladun, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Castillo, Ana (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Soulier, Jean (Université de Paris. Institut de Recherche Saint-Louis) ; Querol, Sergi (Banc de Sang i Teixits de Catalunya) ; Fernández, Jesús (Banc de Sang i Teixits de Catalunya) ; Schwartz, Jonathan (Rocket Pharmaceuticals Inc. (New York)) ; García de Andoín, Nagore (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; López, Ricardo (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Català, Albert (Institut de Recerca Pediàtrica Sant Joan de Déu) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bueren, Juan (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz)
Difficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited the gene therapy in this disease. We have investigated (, NCT02931071) the safety and efficacy of filgrastim and plerixafor for mobilization of HSPCs and collection by leukapheresis in FA patients. [...]
2021 - 10.1016/j.omtm.2021.06.001
Molecular Therapy. Methods & Clinical Development, Vol. 22 (September 2021) , p. 66-75  
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8 p, 885.9 KB Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias : Experience of the Spanish Network on Bone Marrow Failure Syndromes / Gálvez, Eva (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Vallespín, Elena (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Arias-Salgado, Elena G. (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Sánchez-Valdepeñas, Carmen (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Giménez, Yari (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Espanya)) ; Navarro Ordóñez, Susanna (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Espanya)) ; Río, Paula (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Espanya)) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Pujol, Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Peiró, Montserrat (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Nevado, Julián (ITHACA, European Reference Network) ; Zubicaray, Josune (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Sebastián, Elena (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Català, Albert (Sociedad Española de Hematología y Oncología-SEHOP. Grupo insuficiencias medulares) ; Beléndez, Cristina (Hospital General Universitario Gregorio Marañón) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Galera, Ana (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; Badell Serra, Isabel (Institut d'Investigació Biomèdica Sant Pau) ; Madero, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Perona, Rosario (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Sastre, Leandro (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bueren, Juan (Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (Espanya)) ; Lapunzina, Pablo (ITHACA, European Reference Network) ; Sevilla, Julián (Sociedad Española de Hematología y Oncología-SEHOP. Grupo insuficiencias medulares)
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. [...]
2021 - 10.1097/HS9.0000000000000539
HemaSphere, Vol. 5 (march 2021)  
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14 p, 1.9 MB The FANCM :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer / Figlioli, Gisella (The FIRC Institute for Molecular Oncology) ; Bogliolo, Massimo (Institut d'Investigació Biomèdica Sant Pau) ; 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 (Institut d'Investigació Biomèdica Sant Pau) ; 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 (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, 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) ; 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) ; 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 (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 (Institut d'Investigació Biomèdica Sant Pau) ; 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  
8.
9 p, 821.2 KB Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility / Keupp, Katharina (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Hampp, Stephanie (Department of Obstetrics and Gynecology. Ulm University) ; Hübbel, Annette (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Maringa, Monika (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Kostezka, Sarah (Department of Obstetrics and Gynecology. Ulm University) ; Rhiem, Kerstin (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Waha, Anke (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Wappenschmidt, Barbara (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Pujol, Roser. (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Schmutzler, Rita K. (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne) ; Wiesmüller, Lisa (Department of Obstetrics and Gynecology. Ulm University) ; Hahnen, Eric (Center for Familial Breast and Ovarian Cancer. Center for Integrated Oncology (CIO). University of Cologne)
Background: Biallelic BRCA1 mutations are regarded either embryonically lethal or to cause Fanconi anemia (FA), a genomic instability syndrome characterized by bone marrow failure, developmental abnormalities, and cancer predisposition. [...]
2019 - 10.1002/mgg3.863
Molecular genetics & genomic medicine, Vol. 7 Núm. 9 (january 2019) , p. e863  
9.
11 p, 1.2 MB Mutations in TOP3A Cause a Bloom Syndrome-like Disorder / Martin, Carol-Anne (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Sarlós, Kata (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Logan, Clare V. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Singh Thakur, Roshan (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Parry, David A. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Bizard, Anna H. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Leitch, Andrea (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Cleal, Louise (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; Shaukat Ali, Nadia (Dubai Hospital, Al Khaleej Street) ; Al-Owain, Mohammed A. (King Faisal Specialist Hospital and Research Center. Department of Medical Genetics) ; Allen, William (Fullerton Genetics Center, Asheville) ; Altmüller, Janine (University of Cologne. Cologne Center for Genomics) ; Aza-Carmona, Miriam (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Barakat, Bushra A. Y. (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Barraza-García, Jimena (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Begtrup, Amber (GeneDx, 207 Perry Parkway, Gaithersburg) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Cho, Megan T. (GeneDx, 207 Perry Parkway, Gaithersburg) ; Cruz-Rojo, Jaime (Hospital Universitario 12 de Octubre (Madrid)) ; Mundi Dhahrabi, Hassan Ali (Dubai Hospital, Al Khaleej Street, Al Baraha) ; Elcioglu, Nursel H. (University Medical School. Department of Pediatric Genetics) ; Gorman, Gráinne S. (Newcastle University. Institute of Neuroscience) ; Jobling, Rebekah (The Hospital for Sick Children) ; Kesterton, Ian (Cytogenetics Department, Viapath Analytics) ; Kishita, Yoshihito (Juntendo University. Intractable Disease Research Center) ; Kohda, Masakazu (Juntendo University. Intractable Disease Research Center) ; Quesne Stabej, Polona Le (UCL Great Ormond Street Institute of Child Health) ; Jassim Malallah, Asam (Dubai Hospital, Al Khaleej Street) ; Nürnberg, Peter (University of Cologne. Cologne Center for Genomics) ; Ohtake, Akira (Saitama Medical University. Department of Pediatrics) ; Okazaki, Yasushi (Juntendo University. Intractable Disease Research Center) ; Pujol i Calvet, M. Roser (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) ; Revah-Politi, Anya (University Medical Center. Institute for Genomic Medicine) ; Shimura, Masaru (Chiba Children's Hospital. Department of Metabolism) ; Stevens, Paul (Cytogenetics Department, Viapath Analytics) ; Taylor, Robert W. (Newcastle University. Wellcome Centre for Mitochondrial Research) ; Turner, Lesley (Memorial University of Newfoundland) ; Williams, Hywel (UCL Great Ormond Street Institute of Child Health) ; Wilson, Carolyn (Fullerton Genetics Center) ; Yigit, Gökhan (University Medical Center Göttingen. Institute of Human Genetics) ; Zahavich, Laura (The Hospital for Sick Children) ; Alkuraya, Fowzan S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Surrallés Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Iglesias, Alejandro (Columbia University Medical Center. Department of Pediatrics) ; Murayama, Kei (Chiba Children's Hospital. Department of Metabolism) ; Wollnik, Bernd (University Medical Center Göttingen. Institute of Human Genetics) ; Dattani, Mehul (UCL Great Ormond Street Institute of Child Health) ; Heath, Karen E. (Universidad Autónoma de Madrid. Instituto de Genética Médica y Molecular-INGEMM) ; Hickson, Ian D. (University of Copenhagen. Department of Cellular and Molecular Medicine) ; Jackson, Andrew P. (University of Edinburgh. MRC Institute of Genetics and Molecular Medicine) ; GOSgene UCL Great Ormond Street Institute of Child Health
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. [...]
2018 - 10.1016/j.ajhg.2018.07.001
American journal of human genetics, Vol. 103, Issue 2 (August 2018) , p. 221-231  
10.
36 p, 3.1 MB From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia / Krausz, Csilla (Institut d'Investigació Biomèdica Sant Pau) ; Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ; Chianese, Chiara (Institut d'Investigació Biomèdica Sant Pau) ; Moreno-Mendoza, Daniel (Institut d'Investigació Biomèdica Sant Pau) ; Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Rajmil, Osvaldo (Institut d'Investigació Biomèdica Sant Pau) ; Pujol i Calvet, M. Roser (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Bogliolo, Massimo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Blanco Guillermo, Ignacio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez, Inés (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Badell Serra, Isabel (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Ruiz-Castañé, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Surrallés i Calonge, Jordi (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Universitat Autònoma de Barcelona
Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. [...]
2019 - 10.1038/s41436-018-0037-1
Genetics in Medicine, Vol. 21, issue 1 (Jan. 2019) , p. 189-194  

Dipòsit Digital de Documents de la UAB : 17 registres trobats   1 - 10següent  anar al registre:
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