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12 p, 2.4 MB |
Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
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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
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9 p, 213.6 KB |
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations
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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
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15 p, 2.5 MB |
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
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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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Tumour Versus Germline BRCA Testing in Ovarian Cancer : a single-site institution experience in the United Kingdom
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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
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Shu complex SWS1-SWSAP1 promotes early steps in mouse meiotic recombination
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Abreu, Carla M. (Memorial Sloan Kettering Cancer Center) ;
Prakash, Rohit (Memorial Sloan Kettering Cancer Center) ;
Romanienko, Peter J. (Rutgers-Cancer Institute of New Jersey) ;
Roig, Ignasi (Ignasi) (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ;
Keeney, Scott (Memorial Sloan Kettering Cancer Center) ;
Jasin, Maria (Memorial Sloan Kettering Cancer Center) ;
Universitat Autònoma de Barcelona.
Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia
The DNA-damage repair pathway homologous recombination (HR) requires factors that promote the activity of strand-exchange protein RAD51 and its meiosis-specific homolog DMC1. Here we show that the Shu complex SWS1-SWSAP1, a candidate for one such HR regulator, is dispensable for mouse viability but essential for male and female fertility, promoting the assembly of RAD51 and DMC1 on early meiotic HR intermediates. [...]
2018 - 10.1038/s41467-018-06384-x
Nature communications, Vol. 9 (2018) , art. 3961
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Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations
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Singer, Christian. F. (Medical University of Vienna) ;
Balmaña Gelpí, Judith (Vall d'Hebron Institut d'Oncologia) ;
Bürki, Nicole. (University Hospital Basel (Basilea, Suïssa)) ;
Delaloge, Suzette (Gustave Roussy) ;
Filieri, M. E. (University Hospital of Modena) ;
Gerdes, A. M. (University of Copenhagen) ;
Grindedal, E. M. (Oslo University Hospital (Oslo, Noruega)) ;
Han, Sileny (UZ Leuven) ;
Johansson, Oskar. (Landspitali University Hospital (Reykjavík, Islàndia)) ;
Kaufman, Bella. (Sheba Medical Center) ;
Krajc, Mateja. (Institute of Oncology Ljubljana) ;
Loman, Niklas. (Lund University Hospital) ;
Olah, Edith. (National Institute of Oncology) ;
Paluch-Shimon, Shani. (Shaare Zedek Medical Centre) ;
Plavetic, Natalija Dedic (University of Zagreb) ;
Pohlodek, Kamil. (Comenius University of Bratislava) ;
Rhiem, Kerstin. (Uniklinik Köln (Colònia, Alemanya)) ;
Teixeira, Manuel. (Portuguese Oncology Institute) ;
Evans, Gareth (University of Manchester) ;
Universitat Autònoma de Barcelona
An international panel of experts representing 17 European countries and Israel convened to discuss current needs and future developments in BRCA testing and counselling and to issue consensus recommendations. [...]
2019 - 10.1016/j.ejca.2018.10.007
European journal of cancer, Vol. 106 (january 2019) , p. 54-60
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Translational research opportunities regarding homologous recombination in ovarian cancer
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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
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