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Articles, 12 registres trobats
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1.
12 p, 2.4 MB Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers / Page, Elizabeth C. (Institute of Cancer Research) ; Bancroft, Elizabeth K. (Royal Marsden NHS Foundation Trust) ; Brook, Mark N. (Institute of Cancer Research) ; Assel, Melissa (Memorial Sloan Kettering Cancer Center) ; Hassan Al Battat, Mona (Lund University) ; Thomas, Sarah (Royal Marsden NHS Foundation Trust) ; Taylor, Natalie (Royal Marsden NHS Foundation Trust) ; Chamberlain, Anthony (Institute of Cancer Research) ; Pope, Jennifer (Institute of Cancer Research) ; Raghallaigh, Holly Ni (Institute of Cancer Research) ; Evans, D.Gareth (Central Manchester University Hospitals NHS Foundation Trust) ; Rothwell, Jeanette (Central Manchester University Hospitals NHS Foundation Trust) ; Maehle, Lovise (Oslo University Hospital (Oslo, Noruega)) ; Grindedal, Eli Marie (Oslo University Hospital (Oslo, Noruega)) ; James, Paul (The Royal Melbourne Hospital) ; Mascarenhas, Lyon (Peter MacCallum Cancer Centre) ; McKinley, Joanne (Peter MacCallum Cancer Centre) ; Side, Lucy (Princess Anne Hospital) ; Thomas, Tessy (Princess Anne Hospital) ; van Asperen, Christi (Leiden University Medical Center) ; Vasen, Hans (The Foundation for the Detection of Hereditary Cancer) ; Kiemeney, Lambertus A. (Radboud University Medical Center) ; Ringelberg, Janneke (The Foundation for the Detection of Hereditary Cancer) ; Jensen, Thomas Dyrso. (Vejle Hospital) ; Osther, Palle J.S. (Vejle Hospital) ; Helfand, Brian T. (NorthShore University HealthSystem) ; Genova, Elena (NorthShore University HealthSystem) ; Oldenburg, Rogier A. (Erasmus University Medical Center) ; Cybulski, Cezary (Pomeranian Medical University in Szczecin) ; Wokolorczyk, Dominika (Pomeranian Medical University in Szczecin) ; Ong, Kai-Ren (Birmingham Women's Hospital) ; Huber, Camilla (Birmingham Women's Hospital) ; Lam, Jimmy (Bedford Park) ; Taylor, Louise (Daw Park) ; Salinas, Monica (Hospital Universitari de Bellvitge) ; Feliubadaló, Lidia (Hospital Universitari de Bellvitge) ; Oosterwijk, Jan C. (University of Groningen) ; van Zelst-Stams, Wendy (Radboud University Medical Center) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Rosario, Derek J. (Royal Hallamshire Hospital) ; Domchek, Susan (Basser Research Center. University of Pennsylvania) ; Powers, Jacquelyn (University of Pennsylvania) ; Buys, Saundra (University of Utah) ; O'Toole, Karen (University of Utah) ; Ausems, Margreet G. E. M (University Medical Centre) ; Schmutzler, Rita K. (University Hospital Cologne) ; Rhiem, Kerstin (University Hospital Cologne) ; Izatt, Louise (Guy's and St Thomas' NHS Foundation Trust) ; Tripathi, Vishakha (Guy's and St Thomas' NHS Foundation Trust) ; Teixeira, Manuel R. (Porto University) ; Cardoso, Marta (Portuguese Oncology Institute (IPO Porto)) ; Foulkes, William D. (McGill University, Departments of Human Genetics and Oncology) ; Aprikian, Armen (Research Institute of McGill University Health Centre) ; van Randeraad, Heleen (The Foundation for the Detection of Hereditary Cancer) ; Davidson, Rosemarie (Queen Elizabeth University Hospital) ; Longmuir, Mark (Queen Elizabeth University Hospital) ; Ruijs, Marielle W.G. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Helderman van den Enden, Apollonia T.J.M. (Maastricht University Medical Center) ; Adank, Muriel (Amsterdam UMC) ; Williams, Rachel (Prince of Wales Hospital (Australia)) ; Andrews, Lesley (Prince of Wales Hospital (Australia)) ; Murphy, Declan G. (Peter MacCallum Cancer Centre) ; Halliday, Dorothy (Oxford Centre for Genomic Medicine) ; Walker, Lisa (Oxford Centre for Genomic Medicine) ; Liljegren, Annelie (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Carlsson, Stefan (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Azzabi, Ashraf (Newcastle upon Tyne Hospitals) ; Jobson, Irene (Newcastle upon Tyne Hospitals) ; Morton, Catherine (The Royal Melbourne Hospital) ; Shackleton, Kylie (The Royal Melbourne Hospital) ; Snape, Katie (St George's Hospital) ; Hanson, Helen (St George's Hospital) ; Harris, Marion (Monash Health) ; Tischkowitz, Marc (University of Cambridge) ; Taylor, Amy (Cambridge University Hospitals NHS Trust) ; Kirk, Judy (Sydney Medical School) ; Susman, Rachel (Royal Brisbane & Women's Hospital) ; Chen-Shtoyerman, Rakefet (Kaplan Medical Center) ; Spigelman, Allan (The Kinghorn Cancer Centre. St Vincent's Hospital) ; Pachter, Nicholas (University of Western Australia) ; Ahmed, Munaza (NE Thames Regional Genetics Service) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Zgajnar, Janez (Institute of Oncology) ; Brewer, Carole (Royal Devon and Exeter Hospital) ; Gadea, Neus (Hospital Universitari Vall d'Hebron) ; Brady, Angela F. (London North West University Healthcare NHS Trust) ; van Os, Theo (Academic Medical Center) ; Gallagher, David (St James's Hospital) ; Johannsson, Oskar (Landspitali University Hospital (Reykjavík, Islàndia)) ; Donaldson, Alan (St Michael's Hospital) ; Barwell, Julian (University Hospitals Leicester) ; Nicolai, Nicola (Istituto Nazionale dei Tumori (Milà, Itàlia)) ; Friedman, Eitan (Chaim Shema Medical Center) ; Obeid, Elias (Fox Chase Cancer Center) ; Greenhalgh, Lynn (Liverpool Women's Hospital) ; Murthy, Vedana (Tata Memorial Centre) ; Copakova, Lucia (National Cancer Institute) ; Saya, Sibel (Institute of Cancer Research) ; McGrath, John (University of Exeter Medical School) ; Cooke, Peter (New Cross Hospital) ; Rønlund, Karina (Vejle Hospital) ; Richardson, Kate (Peter MacCallum Cancer Centre) ; Henderson, Alex (West Cumberland Infirmary) ; Teo, Soo H. (Subang Jaya Medical Centre) ; Arun, Banu (The University of Texas) ; Kast, Karin (Technische Universität Dresden) ; Dias, Alexander (Instituto Nacional de Cancer Jose de Alencar Gomes da Silva (INCA)) ; Aaronson, Neil K (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Ardern-Jones, Audrey (Royal Marsden NHS Foundation Trust) ; Bangma, Chris H. (Erasmus University Medical Center) ; Castro, Elena (Centro Nacional de Investigaciones Oncológicas) ; Dearnaley, David (The Institute of Cancer Research. Royal Marsden NHS Foundation Trust (Londres, Regne Unit)) ; Eccles, Diana M. (The University of Southampton Medical School) ; Tricker, Karen (Central Manchester University Hospitals NHS Foundation Trust) ; Eyfjord, Jorunn (University of Iceland) ; Falconer, Alison (Imperial College Healthcare NHS Trust) ; Foster, Christopher (HCA Pathology Laboratories) ; Gronberg, Henrik (University Hospital) ; Hamdy, Freddie C. (University of Oxford) ; Stefansdottir, Vigdis (Landspitali University Hospital (Reykjavík, Islàndia)) ; Khoo, Vincent (The University of Melbourne) ; Lindeman, Geoffrey J. (The Walter and Eliza Hall Institute of Medical Research) ; Lubinski, Jan (Pomeranian Medical University in Szczecin) ; Axcrona, Karol (Akershus University Hospital) ; Mikropoulos, Christos (Medway Hospital) ; Mitra, Anita (University College London Hospitals NHS Foundation Trust) ; Moynihan, Clare (Institute of Cancer Research) ; Rennert, Gadi (Carmel Medical Center) ; Suri, Mohnish (Nottingham City Hospital) ; Wilson, Penny (Innovate UK. Polaris House) ; Dudderidge, Tim (University Hospital Southampton) ; Offman, Judith (King's College London) ; Kote-Jarai, Zsofia (Institute of Cancer Research) ; Vickers, Andrew (Memorial Sloan Kettering Cancer Center) ; Lilja, Hans (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ; Eeles, Rosalind A. (Royal Marsden NHS Foundation Trust) ; Universitat Autònoma de Barcelona
Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. [...]
2019 - 10.1016/j.eururo.2019.08.019
European Urology, Vol. 76 Núm. 6 (december 2019) , p. 831-842  
2.
9 p, 213.6 KB Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations / Bancroft, Elizabeth K. (Institute of Cancer Research) ; Saya, Sibel (Institute of Cancer Research) ; Page, Elizabeth C. (Institute of Cancer Research) ; Myhill, Kathryn (Institute of Cancer Research) ; Thomas, Sarah (Institute of Cancer Research) ; Pope, Jennifer (Institute of Cancer Research) ; Chamberlain, Anthony (Institute of Cancer Research) ; Hart, Rachel (Birmingham Women's Hospital) ; Glover, Wayne (Birmingham Women's Hospital) ; Cook, Jackie (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Rosario, Derek J. (Royal Hallamshire Hospital) ; Helfand, Brian T. (NorthShore University HealthSystem) ; Hutten Selkirk, Christina (NorthShore University HealthSystem) ; Davidson, Rosemarie (Queen Elizabeth University Hospital) ; Longmuir, Mark (Queen Elizabeth University Hospital) ; Eccles, Diana M. (University of Southampton) ; Gadea, Neus (Hospital Universitari Vall d'Hebron) ; Brewer, Carole (Royal Devon and Exeter Hospital) ; Barwell, Julian (University Hospitals Leicester) ; Salinas, Monica (Hospital Universitari de Bellvitge) ; Greenhalgh, Lynn (Liverpool Women's Hospital) ; Tischkowitz, Marc (University of Cambridge) ; Henderson, Alex (Newcastle upon Tyne Hospitals) ; Evans, David Gareth (Central Manchester University Hospitals NHS Foundation Trust) ; Buys, Saundra S. (University of Utah Health) ; Eeles, Rosalind A. (Institute of Cancer Research) ; Aaronson, Neil K (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Capellá, G. (Gabriel) (Hospital Universitari de Bellvitge) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Mora Brugués, Josefina (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Esquena, Salvador (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Morote Robles, Juan (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. [...]
2019 - 10.1111/bju.14412
BJU International, Vol. 123 Núm. 2 (february 2019) , p. 284-292  
3.
20 p, 7.5 MB Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2 : In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants / Özkan, Selen (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Padilla Sirera, Natàlia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; de la Cruz, Xavier (Institució Catalana de Recerca i Estudis Avançats) ; Universitat Autònoma de Barcelona
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense variants constitute an important problem with negative consequences for the diagnosis of hereditary breast and ovarian cancer. [...]
2021 - 10.3390/ijms22126226
International journal of molecular sciences, Vol. 22 (june 2021)  
4.
13 p, 765.7 KB Male breast cancer in BRCA1 and BRCA2 mutation carriers : pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 / Silvestri, Valentina (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Barrowdale, Daniel (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Mulligan, Anna Marie (Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON Canada) ; Neuhausen, Susan L. (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Fox, Stephen (Peter MacCallum Cancer Institute, East Melbourne, Australia) ; Karlan, Beth Y. (Cedars Sinai Heart Institute (Los Angeles, Estats Units d'Amèrica)) ; Mitchell, Gillian (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ; James, Paul (Department of Oncology, The University of Melbourne, Melbourne, VIC Australia) ; Thull, Darcy L. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ; Zorn, Kristin K. (University of Pittsburgh School of Medicine, Pittsburgh, PA USA) ; Carter, Natalie J. (UPMC Cancer Center, Pittsburgh, PA USA) ; Nathanson, Katherine L. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ; Domchek, Susan M. (Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA USA) ; Rebbeck, Timothy R. (Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA) ; Ramus, Susan J. (Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA USA) ; Nussbaum, Robert L. (Department of Medicine and Genetics, University of California, San Francisco, San Francisco, CA USA) ; Olopade, Olufunmilayo I. (Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL USA) ; Rantala, Johanna (Karolinska University Hospital and Karolinska Institutet (Suècia)) ; Yoon, Sook-Yee (University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia) ; Caligo, Maria (University Hospital of Pisa (Pisa, Itàlia)) ; Spugnesi, Laura (University Hospital of Pisa (Pisa, Itàlia)) ; Bojesen, Anders (Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark) ; Pedersen, Inge Sokilde (Aalborg University Hospital (Dinamarca)) ; Thomassen, Mads (Odense University Hospital (Dinamarca)) ; Jensen, Uffe Birk (Aarhus University Hospital (Aarhus, Dinamarca)) ; Toland, Amanda Ewart (Department of Molecular Virology, Immunology and Medical Genetics, College of Medicine, The Ohio State University, Columbus, OH USA) ; Senter, Leigha (Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH USA) ; Andrulis, Irene L. (Department of Molecular Genetics, University of Toronto, Toronto, ON Canada) ; Glendon, Gord (Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON Canada) ; Hulick, Peter J. (Center for Medical Genetics, North Shore University Health System, Evanston, IL USA) ; Imyanitov, Evgeny N. (N.N. Petrov Institute of Oncology, St. Petersburg, Russia) ; Greene, Mark H. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ; Mai, Phuong L. (Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD USA) ; Singer, Christian F. (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Rappaport-Fuerhauser, Christine (Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria) ; Kramer, Gero (Department of Urology, Medical University of Vienna, Vienna, Austria) ; Vijai, Joseph (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Offit, Kenneth (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Robson, Mark (Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Lincoln, Anne (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Jacobs, Lauren (Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY USA) ; Machackova, Eva (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Foretova, Lenka (Masaryk Memorial Cancer Institute and Faculty of Medicine, Masaryk University, Brno, Czech Republic) ; Navratilova, Marie (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Vasickova, Petra (Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic) ; Couch, Fergus J. (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ; Hallberg, Emily (Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA) ; Ruddy, Kathryn J. (Department of Oncology, Mayo Clinic, Rochester, MN USA) ; Sharma, Priyanka (Department of Hematology and Oncology, University of Kansas Medical Center, Kansas City, KS USA) ; Kim, Sung-Won (Department of Surgery, Daerim St. Mary's Hospital, Seoul, Korea) ; Teixeira, Manuel R. (Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal) ; Pinto, Pedro (Department of Genetics, Portuguese Institute of Oncology, Porto, Portugal) ; Montagna, Marco (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Matricardi, Laura (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Arason, Adalgeir (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ; Johannsson, Oskar Th (Landspitali University Hospital (Reykjavík, Islàndia)) ; Barkardottir, Rosa B. (Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland) ; Jakubowska, Anna (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Lubinski, Jan (Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland) ; Izquierdo, Angel (Institut Català d'Oncologia) ; Pujana, Miguel Angel (Institut d'Investigació Biomèdica de Bellvitge) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Diez, Orland (Vall d'Hebron Institut d'Oncologia) ; Ivady, Gabriella (Department of Pathology, National Institute of Oncology, Budapest, Hungary) ; Papp, Janos (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Olah, Edith (Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary) ; Kwong, Ava (Department of Surgery, The University of Hong Kong, Hong Kong, China) ; Nevanlinna, Heli (Helsinki University Hospital (Finlàndia)) ; Aittomäki, Kristiina (Helsinki University Hospital (Finlàndia)) ; Pérez-Segura, Pedro (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Caldes, Trinidad (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos) ; Van Maerken, Tom (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Poppe, Bruce (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Claes, Kathleen (Center for Medical Genetics, Ghent University, Ghent, Belgium) ; Isaacs, Claudine (Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA) ; Elan, Camille (Department of Tumour Biology, Institut Curie, Paris, France) ; Lasset, Christine (Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France) ; Stoppa-Lyonnet, Dominique (Université Paris Descartes, Sorbonne Paris Cité, Paris, France) ; Barjhoux, Laure (INSERM U1052, CNRS UMR5286, Centre de Recherche en Cancérologie de Lyon, Université Lyon, Lyon, France) ; Belotti, Muriel (Department of Tumour Biology, Institut Curie, Paris, France) ; Meindl, Alfons (Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany) ; Gehrig, Andrea (Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany) ; Sutter, Christian (Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany) ; Engel, Christoph (Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany) ; Niederacher, Dieter (University of Dusseldorf, Dusseldorf, Germany) ; Steinemann, Doris (Hannover Medical School, Hannover, Germany) ; Hahnen, Eric (Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany) ; Kast, Karin (Department of Gynecology and Obstetrics, Technical University of Dresden, Dresden, Germany) ; Arnold, Norbert (Department of Gynaecolgy and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Kiel, Germany) ; Varon-Mateeva, Raymonda (Institute of Human Genetics, Charité, Berlin, Germany) ; Wand, Dorothea (Institute of Human Genetics, Leipzig, Germany) ; Godwin, Andrew K. (Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS USA) ; Evans, Gareth (Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK) ; Frost, Debra (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Perkins, Jo (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Adlard, Julian (Yorkshire Regional Genetics Service, Leeds, UK) ; Izatt, Louise (Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK) ; Platte, Radka (Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, UK) ; Eeles, Ros (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ; Ellis, Steve (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Hamann, Ute (Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany) ; Garber, Judy (Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA USA) ; Fostira, Florentia (Molecular Diagnostics Laboratory, Institute of Nuclear and Radiological Sciences and Technology (INRASTES), National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece) ; Fountzilas, George (Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece) ; Pasini, Barbara (AO Città della Salute e della Scienza, Turin, Italy) ; Giannini, Giuseppe (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Rizzolo, Piera (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Russo, Antonio (Section of Medical Oncology, Department of Surgical and Oncological Sciences, University of Palermo, Palermo, Italy) ; Cortesi, Laura (Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy) ; Papi, Laura (Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy) ; Varesco, Liliana (Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Scientific Institute of Hospitalization and Care), AOU San Martino - IST National Institute for Cancer Research, Genoa, Italy) ; Palli, Domenico (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ; Zanna, Ines (Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy) ; Savarese, Antonella (Unit of Genetic Counselling, Medical Oncology Department, Regina Elena National Cancer Institute, Rome, Italy) ; Radice, Paolo (Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), 20133 Milan, Italy) ; Manoukian, Siranoush (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ; Peissel, Bernard (Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy) ; Barile, Monica (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ; Bonanni, Bernardo (Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy) ; Viel, Alessandra (Division of Experimental Oncology, CRO Aviano National Cancer Institute, Aviano, PN Italy) ; Pensotti, Valeria (Cogentech Cancer Genetic Test Laboratory, Milan, Italy) ; Tommasi, Stefania (National Cancer Institute "Giovanni Paolo II", Bari, Italy) ; Peterlongo, Paolo (IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy) ; Weitzel, Jeffrey N. (Clinical Cancer Genetics, City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA USA) ; Osorio, Ana (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Benitez, Javier (Centro Nacional de Investigaciones Oncológicas) ; McGuffog, Lesley (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Healey, Sue (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ; Gerdes, Anne-Marie (Copenhagen University Hospital Rigshospitalet) ; Ejlertsen, Bent (Copenhagen University Hospital Rigshospitalet) ; Hansen, Thomas V. O. (Copenhagen University Hospital Rigshospitalet) ; Steele, Linda (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Ding, Yuan Chun (Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA USA) ; Tung, Nadine (Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA USA) ; Janavicius, Ramunas (State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania) ; Goldgar, David E. (Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ; Buys, Saundra (Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT USA) ; Daly, Mary B. (Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA USA) ; Bane, Anita (Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON Canada) ; Terry, Mary Beth (Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY USA) ; John, Esther M. (Department of Epidemiology, Cancer Prevention Institute of California, Fremont, CA USA) ; Southey, Melissa (Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia) ; Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Chenevix-Trench, Georgia (Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia) ; Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Ottini, Laura (Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161 Rome, Italy) ; Universitat Autònoma de Barcelona
BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. [...]
2016 - 10.1186/s13058-016-0671-y
Breast cancer research, Vol. 18 (february 2016)  
5.
22 p, 2.3 MB Age-associated deficient recruitment of 53BP1 in G1 cells directs DNA double-strand break repair to BRCA1/CtIP-mediated DNA-end resection / Anglada Pons, Teresa (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Genescà, Anna (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Martín Flix, Marta (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
DNA repair mechanisms play a crucial role in maintaining genome integrity. However, the increased frequency of DNA double-strand breaks (DSBs) and genome rearrangements in aged individuals suggests an age-associated DNA repair deficiency. [...]
2020 - 10.18632/aging.202419
Aging (Albany NY), Vol. 12, Issue 24 (December 2020) , p. 24872-24893  
6.
10 p, 261.8 KB Tumour Versus Germline BRCA Testing in Ovarian Cancer : a single-site institution experience in the United Kingdom / Akaev, Iolia (University of Portsmouth) ; Rahimi, Siavash (University of Portsmouth) ; Onifade, Olubukola (Portsmouth Hospitals University NHS Trust) ; Gardner, Francis John Edward (Portsmouth Hospitals University NHS Trust) ; Castells-Rufas, David (Universitat Autònoma de Barcelona. Departament de Microelectrònica i Sistemes Electrònics) ; Jones, Eleanor (Portsmouth Hospitals University NHS Trust) ; Acharige, Shyamika (Portsmouth Hospitals University NHS Trust) ; Chit Cheng, Yeoh (Portsmouth Hospitals University NHS Trust)
The aim of this audit was to evaluate the usefulness and serviceability of testing for pathogenic mutations in BRCA1 or BRCA2 (BRCA1/2) genes in ovarian cancer (OC) patients. One hundred and thirty-five patients with more common histological sub-types of OC were retrospectively identified between 2011 and 2019. [...]
2021 - 10.3390/diagnostics11030547
Diagnostics, Vol. 11, Issue 3 (March 2021) , art. 547  
7.
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  
8.
7 p, 306.9 KB Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations / Singer, Christian. F. (Medical University of Vienna) ; Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ; Bürki, Nicole. (University Hospital Basel (Basilea, Suïssa)) ; Delaloge, Suzette (Gustave Roussy) ; Filieri, M. E. (University Hospital of Modena) ; Gerdes, A. M. (University of Copenhagen) ; Grindedal, E. M. (Oslo University Hospital (Oslo, Noruega)) ; Han, Sileny (UZ Leuven) ; Johansson, Oskar. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Kaufman, Bella. (Sheba Medical Center) ; Krajc, Mateja. (Institute of Oncology Ljubljana) ; Loman, Niklas. (Lund University Hospital) ; Olah, Edith. (National Institute of Oncology) ; Paluch-Shimon, Shani. (Shaare Zedek Medical Centre) ; Plavetic, Natalija Dedic (University of Zagreb) ; Pohlodek, Kamil. (Comenius University of Bratislava) ; Rhiem, Kerstin. (Uniklinik Köln (Colònia, Alemanya)) ; Teixeira, Manuel. (Portuguese Oncology Institute) ; Evans, Gareth (University of Manchester) ; Universitat Autònoma de Barcelona
An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. [...]
2019 - 10.1016/j.ejca.2018.10.007
European journal of cancer, Vol. 106 (january 2019) , p. 54-60  
9.
18 p, 288.5 KB Translational research opportunities regarding homologous recombination in ovarian cancer / Romeo, Margarita (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pardo, Juan Carlos (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez Cardús, Anna (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez Balibrea, Eva (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Quiroga, Vanesa (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez Román, Sergio (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Sole, F (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Margelí, Mireia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mesía, Ricard (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Homologous recombination (HR) is a DNA repair pathway that is deficient in 50% of high-grade serous ovarian carcinomas (HGSOC). Deficient HR (DHR) constitutes a therapeutic opportunity for these patients, thanks to poly (ADP-ribose) polymerases (PARP) inhibitors (PARPi; olaparib, niraparib, and rucaparib are already commercialized). [...]
2018 - 10.3390/ijms19103249
International journal of molecular sciences, Vol. 19 Núm. 10 (19 2018) , p. 3249  
10.
19 p, 13.4 MB Germline BRCA1 mutation reprograms breast epithelial cell metabolism towards mitochondrial-dependent biosynthesis : evidence for metformin-based "starvation" strategies in BRCA1 carriers / Cuyàs, Elisabet (Institut d'Investigació Biomèdica de Girona) ; Fernández-Arroyo, Salvador (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Alarcón Cor, Tomás (Universitat Autònoma de Barcelona. Departament de Matemàtiques) ; Joven, Jorge (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Menendez, Javier A. (Institut d'Investigació Biomèdica de Girona)
We hypothesized that women inheriting one germline mutation of the BRCA1 gene ("one-hit") undergo cell-type-specific metabolic reprogramming that supports the high biosynthetic requirements of breast epithelial cells to progress to a fully malignant phenotype. [...]
2016 - 10.18632/oncotarget.9732
Oncotarget, Vol. 7 (may 2016) , p. 52974-52992  

Articles : 12 registres trobats   1 - 10següent  anar al registre:
Documents de recerca 3 registres trobats  
1.
101 p, 1.4 MB Utilidad clínica de la salpingo-ooforectomía bilateral profiláctica en la reducción de riesgo de cáncer de mama en el síndrome de cáncer de mama y ovario hereditario asociado a variantes patogénicas en BRCA1 o BRCA2 / Stjepanovic Djurasinovic, Neda ; Balmaña Gelpí, Judith, dir. ; Bosch Albareda, Francesc, dir.
L'evidència disponible respecte a l'associació de la salpingo-ooforectomia bilateral profilàctica (SOBP) i la reducció de risc de càncer de mama en portadores de BRCA1/2 és conflictiva, a causa de potencials biaixos metodològics en les anàlisis prèviament publicats. [...]
La evidencia disponible respecto a la asociación de la salpingo-ooforectomia bilateral profiláctica (SOBP) y la reducción de riesgo de cáncer de mama en portadoras de BRCA1/2 es conflictiva, debido a potenciales sesgos metodológicos en los análisis previamente publicados. [...]
There is conflicting evidence in the literature regarding the association of prophylactic bilateral salpingo-oophorectomy and breast cancer risk reduction in BRCA1/2 carriers, because of potential methodological issues of the previous analysis. [...]

2021  
2.
192 p, 3.7 MB Novel approaches for in silico identification of pathogenic variants in BRCA1 and BRCA2 hereditary breast and ovarian cancer predisposition genes / Padilla Sirera, Natàlia ; de la Cruz Montserrat, Francisco Javier, dir. ; Querol Murillo, Enrique, dir.
Variants germinals a les proteïnes BRCA1 i BRCA2 poden alterar la funció protectora d'aquestes a l'ADN, incrementant el risc de desenvolupar càncer de mama i ovari hereditari (HBOC). Identificació d'aquells individus portadors de variants patogèniques permet canalitzar-los en programes específics de prevenció i vigilància, augmentant les seves taxes de supervivència. [...]
Variantes germinales en las proteínas BRCA1 y BRCA2 pueden alterar la función protectora de estas en el ADN, incrementando el riesgo de desarrollar cáncer de mama y ovario hereditario (HBOC). Identificación de aquellos individuos portadores de variantes patogénicas permite canalizarlos hacia programas específicos de prevención y vigilancia, aumentando sus tasas de supervivencia. [...]
Germline variants in BRCA1 and BRCA2 can disrupt the DNA protective role of these proteins resulting in an increased risk of developing hereditary breast and ovarian cancer (HBOC). Identification of those individuals carrying pathogenic variants will allow channeling them into specific programs of prevention and surveillance, incrementing their survival rates. [...]

2020  
3.
1 p, 1.5 MB Chromatin plasticity in the DNA damage response: a key player in double-strand break repair pathway choice / García Moro, Eva ; Universitat Autònoma de Barcelona. Facultat de Biociències
2018
Grau en Ciències Biomèdiques [832]  

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