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1.
10 p, 800.6 KB Frequency of breast cancer with hereditary risk features in Spain : Analysis from GEICAM "El Álamo III" retrospective study / Márquez-Rodas, Iván (GEICAM Fundación Grupo Español de Investigación en Cáncer de Mama) ; Pollán, Marina (Instituto de Salud Carlos III) ; Escudero, María José (GEICAM Fundación Grupo Español de Investigación en Cáncer de Mama) ; Ruiz, Amparo (Instituto Valenciano de Oncología) ; Martín, Miguel (GEICAM Fundación Grupo Español de Investigación en Cáncer de Mama) ; Santaballa, Ana (Hospital Universitari i Politècnic La Fe) ; Martínez del Prado, Purificación (Hospital de Basurto-Osakidetza) ; Batista, Norberto (Hospital Universitario de Canarias) ; Andrés, Raquel (Hospital Lozano Blesa) ; Antón, Antonio (Hospital Universitario Miguel Servet) ; Llombart, Antonio (Hospital Arnau de Vilanova) ; Fernandez Aramburu, Antonio (Complejo Universitario de Albacete) ; Adrover, Encarnación (Complejo Universitario de Albacete) ; González, Sonia (Hospital Mútua de Terrassa) ; Seguí, Miguel Angel (Parc Taulí Hospital Universitari) ; Calvo, Lourdes (Complejo Hospitalario Universitario A Coruña) ; Lizón, José (Hospital Universitario Sant Joan) ; Rodríguez Lescure, Álvaro (Hospital General Universitario de Elche) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Llort, Gemma (Institut Oncologic del Valles) ; Jara, Carlos (Hospital Universitario Fundación Alcorcón) ; Carrasco, Eva (GEICAM Fundación Grupo Español de Investigación en Cáncer de Mama) ; López-Tarruella, Sara (GEICAM Fundación Grupo Español de Investigación en Cáncer de Mama) ; Universitat Autònoma de Barcelona
To determine the frequency of breast cancer (BC) patients with hereditary risk features in a wide retrospective cohort of patients in Spain. A retrospective analysis was conducted from 10,638 BC patients diagnosed between 1998 and 2001 in the GEICAM registry "El Álamo III", dividing them into four groups according to modified ESMO and SEOM hereditary cancer risk criteria: Sporadic breast cancer group (R0); Individual risk group (IR); Familial risk group (FR); Individual and familial risk group (IFR) with both individual and familial risk criteria. [...]
2017 - 10.1371/journal.pone.0184181
PloS one, Vol. 12 Núm. 10 (october 2017) , p. e0184181  
2.
22 p, 1.1 MB MyD88 and TLR4 Expression in Epithelial Ovarian Cancer / Block, Matthew S. (Mayo Clinic) ; Vierkant, Robert A. (Mayo Clinic) ; Rambau, Peter F. (Catholic University of Health and Allied Sciences-Bugando) ; Winham, Stacey J. (Mayo Clinic) ; Wagner, Philipp (Tübingen University Hospital) ; Traficante, Nadia (the University of Melbourne) ; Toloczko, Aleksandra (Pomeranian Medical University) ; Tiezzi, Daniel G. (University of São Paulo) ; Taran, Florin Andrei (Tübingen University Hospital) ; Sinn, Peter (Heidelberg University Hospital (Alemanya)) ; Sieh, Weiva (Icahn School of Medicine at Mount Sinai) ; Sharma, Raghwa ; Rothstein, Joseph H. (Icahn School of Medicine at Mount Sinai) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Paz-Ares, Luis (Hospital 12 de Octubre (Madrid)) ; Oszurek, Oleg (Pomeranian Medical University) ; Orsulic, Sandra (Cedars-Sinai Medical Center) ; Ness, Roberta B. (University of Texas School of Public Health) ; Nelson, Gregg (University of Calgary) ; Modugno, Francesmary (Magee-Womens Research Institute and University of Pittsburgh Cancer Institute) ; Menkiszak, Janusz (Pomeranian Medical University) ; McGuire, Valerie (Stanford University School of Medicine) ; McCauley, Bryan M. (Mayo Clinic) ; Mack, Marie (University of Cambridge) ; Lubinski, Jan (International Hereditary Cancer Center) ; Longacre, Teri A. (Stanford University) ; Li, Zheng (the Third Affiliated Hospital of Kunming Medical University (Yunnan Tumor Hospital)) ; Lester, Jenny (Cedars-Sinai Medical Center) ; Kennedy, Catherine J. (Westmead Hospital) ; Kalli, Kimberly R. (Mayo Clinic) ; Jung, Audrey Y. (German Cancer Research Center (DKFZ)) ; Johnatty, Sharon E. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Jimenez-Linan, Mercedes (Addenbrookes Hospital (Cambridge, Regne Unit)) ; Jensen, Allan (Danish Cancer Society Research Center) ; Intermaggio, Maria P. (University of New South Wales) ; Hung, Jillian ; Herpel, Esther (University of Heidelberg) ; Hernandez, Brenda Y. (University of Hawaii) ; Hartkopf, Andreas D. (Tübingen University Hospital) ; Harnett, Paul R. ; Ghatage, Prafull (University of Calgary) ; García-Bueno, José M. (Complejo Hospitalario Universitario de Albacete) ; Gao, Bo (University of Sydney) ; Fereday, Sian ; Eilber, Ursula (German Cancer Research Center (DKFZ)) ; Edwards, Robert P. (University of Pittsburgh School of Medicine) ; de Sousa, Christiani B. (University of São Paulo) ; de Andrade, Jurandyr M. (University of São Paulo) ; Chudecka-Glaz, Anita (Pomeranian Medical University) ; Chenevix-Trench, Georgia ; Cazorla, Alicia (Hospital Universitario Fundación Jiménez Díaz) ; Brucker, Sara Y. (Tübingen University Hospital) ; Bowtell, David D. ; Green, A. ; Webb, P. ; De Fazio, Anna ; Gertig, D. ; Moore, S. ; Harrap, K. ; Sadkowsky, T. ; Pandeya, N. ; Malt, M. ; Mellon, A. ; Robertson, R. ; Vanden Bergh, T. ; Jones, M. ; Mackenzie, P. ; Maidens, J. ; Nattress, K. ; Chiew, Y.E. ; Stenlake, A. ; Sullivan, H. ; Alexander, B. ; Ashover, P. ; Brown, S. ; Corrish, T. ; Green, L. ; Jackman, L. ; Ferguson, K. ; Martin, K. ; Martyn, A. ; Ranieri, B. ; White, J. ; Jayde, V. ; Mamers, P. ; Bowes, L. ; Galletta, L. ; Giles, D. ; Hendley, J. ; Alsop, K. ; Schmidt, T. ; Shirley, H. ; Ball, C. ; Young, C. ; Viduka, S. ; Tran, H. ; Bilic, Sanela ; Glavinas, Lydia 700 1_ ; Stuart-Harris, R. ; Kirsten, F. ; Rutovitz, J. ; Clingan, P. ; Glasgow, A. ; Proietto, A. ; Braye, S. ; Otton, G. ; Shannon, J. ; Bonaventura, T. ; Stewart, J. ; Begbie, S. ; Friedlander, M. ; Bell, D. ; Baron-Hay, S. ; Ferrier, A. ; Gard, G. ; Nevell, D. ; Pavlakis, N. ; Valmadre, S. ; Young, B. ; Camaris, C. ; Crouch, R. ; Edwards, L. ; Hacker, N. ; Marsden, D. ; Robertson, G. ; Beale, P. ; Beith, J. ; Carter, J. ; Dalrymple, C. ; Houghton, R. ; Russell, P. ; Links, M. ; Grygiel, J. ; Hill, J. ; Brand, A. ; Byth, K. ; Jaworski, R. ; Wain, G. ; Ward, B. ; Papadimos, D. ; Crandon, A. ; Cummings, M. ; Horwood, K. ; Obermair, A. ; Perrin, L. ; Wyld, D. ; Nicklin, J. ; Davy, M. ; Oehler, M.K. ; Hall, C. ; Dodd, T. ; Healy, T. ; Pittman, K. ; Henderson, D. ; Miller, J. ; Pierdes, J. ; Blomfield, P. ; Challis, D. ; McIntosh, R. ; Parker, A. ; Brown, B. ; Rome, R. ; Allen, D. ; Grant, P. ; Hyde, S. ; Laurie, R. ; Robbie, M. ; Healy, D. ; Jobling, T. ; Manolitsas, T. ; McNealage, J. ; Rogers, P. ; Susil, B. ; Sumithran, E. ; Simpson, I. ; Phillips, K. ; Rischin, D. ; Fox, S. ; Johnson, D. ; Lade, S. ; Loughrey, M. ; O'Callaghan, N. ; Murray, W. ; Waring, P. ; Billson, V. ; Pyman, J. ; Neesham, D. ; Quinn, M. ; Underhill, C. ; Bell, R. ; Ng, L.F. ; Blum, R. ; Ganju, V. ; Hammond, I. ; Leung, Y. ; McCartney, A. ; Buck, M. ; Haviv, I. ; Purdie, D. ; Whiteman, D. ; Zeps, N. ; Alsop, Jennifer (University of Cambridge) ; Whittemore, Alice S. (Stanford University School of Medicine) ; Steed, Helen (Royal Alexandra Hospital) ; Staebler, Annette (Tübingen University Hospital) ; Moysich, Kirsten B. (Roswell Park Cancer Institute) ; Menon, Usha (University College London) ; Koziak, Jennifer M. (Alberta Health Services-Cancer Care) ; Kommoss, Stefan (Tübingen University Hospital) ; Kjaer, Susanne K. (University of Copenhagen) ; Kelemen, Linda E. (Medical University of South Carolina and Hollings Cancer Center) ; Karlan, Beth Y. (Cedars-Sinai Medical Center) ; Huntsman, David G. (British Columbia Cancer Agency) ; Høgdall, Estrid (University of Copenhagen) ; Gronwald, Jacek (Pomeranian Medical University) ; Goodman, Marc T. (Cedars-Sinai Medical Center) ; Gilks, Blake (Vancouver General Hospital and University of British Columbia) ; García, María José (Instituto de Salud Carlos III) ; Fasching, Peter A. (University Hospital Erlangen) ; Deen, Suha (Nottingham University Hospitals NHS Trust) ; Chang-Claude, Jenny (University Medical Center Hamburg-Eppendorf) ; Candido dos Reis, Francisco J. (University of São Paulo) ; Campbell, Ian G. (University of Melbourne) ; Brenton, James D. (Cambridge Experimental Cancer Medicine Centre) ; Benitez, Javier (Instituto de Salud Carlos III) ; Pharoah, Paul D.P. (University of Cambridge) ; Köbel, Martin (University of Calgary) ; Ramus, Susan J. (Garvan Institute) ; Goode, Ellen L. (Mayo Clinic) ; Universitat Autònoma de Barcelona
To evaluate myeloid differentiation primary response gene 88 (MyD88) and Toll-like receptor 4 (TLR4) expression in relation to clinical features of epithelial ovarian cancer, histologic subtypes, and overall survival. [...]
2018 - 10.1016/j.mayocp.2017.10.023
Mayo Clinic Proceedings, Vol. 93 Núm. 3 (january 2018) , p. 307-320  
3.
12 p, 2.4 MB Interim Results from the IMPACT Study : Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers / Page, E.C. (Institute of Cancer Research) ; Bancroft, E.K. (Royal Marsden NHS Foundation Trust) ; Brook, M.N. (Institute of Cancer Research) ; Assel, M. (Memorial Sloan Kettering Cancer Center) ; Hassan Al Battat, M. (Lund University) ; Thomas, S. (Royal Marsden NHS Foundation Trust) ; Taylor, N. (Royal Marsden NHS Foundation Trust) ; Chamberlain, A. (Institute of Cancer Research) ; Pope, J. (Institute of Cancer Research) ; Raghallaigh, H.N. (Institute of Cancer Research) ; Evans, D.G. (Central Manchester University Hospitals NHS Foundation Trust) ; Rothwell, J. (Central Manchester University Hospitals NHS Foundation Trust) ; Maehle, L. (Oslo University Hospital (Oslo, Noruega)) ; Grindedal, E.M. (Oslo University Hospital (Oslo, Noruega)) ; James, P. (The Royal Melbourne Hospital) ; Mascarenhas, L. (Peter MacCallum Cancer Centre) ; McKinley, J. (Peter MacCallum Cancer Centre) ; Side, L. (Princess Anne Hospital) ; Thomas, T. (Princess Anne Hospital) ; van Asperen, C. (Leiden University Medical Center) ; Vasen, H. (The Foundation for the Detection of Hereditary Cancer) ; Kiemeney, L.A. (Radboud University Medical Center) ; Ringelberg, J. (The Foundation for the Detection of Hereditary Cancer) ; Jensen, T.D. (Vejle Hospital) ; Osther, P.J.S. (Vejle Hospital) ; Helfand, B.T. (NorthShore University HealthSystem) ; Genova, E. (NorthShore University HealthSystem) ; Oldenburg, R.A. (Erasmus University Medical Center) ; Cybulski, Cezary (Pomeranian Medical University in Szczecin) ; Wokolorczyk, D. (Pomeranian Medical University in Szczecin) ; Ong, K.R. (Birmingham Women's Hospital) ; Huber, C. (Birmingham Women's Hospital) ; Lam, J. (Bedford Park) ; Taylor, L. (Daw Park) ; Salinas, Monica (Hospital Universitari de Bellvitge) ; Feliubadaló, Lidia (Hospital Universitari de Bellvitge) ; Oosterwijk, J.C. (University of Groningen) ; van Zelst-Stams, W. (Radboud University Medical Center) ; Cook, J. (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Rosario, D.J. (Royal Hallamshire Hospital) ; Domchek, S. (Basser Research Center. University of Pennsylvania) ; Powers, J. (University of Pennsylvania) ; Buys, S. (University of Utah) ; O'Toole, K. (University of Utah) ; Ausems, M.G.E.M. (University Medical Centre) ; Schmutzler, R.K. (University Hospital Cologne) ; Rhiem, K. (University Hospital Cologne) ; Izatt, L. (Guy's and St Thomas' NHS Foundation Trust) ; Tripathi, V. (Guy's and St Thomas' NHS Foundation Trust) ; Teixeira, M.R. (Porto University) ; Cardoso, M. (Portuguese Oncology Institute (IPO Porto)) ; Foulkes, W.D. (McGill University) ; Aprikian, A. (Research Institute of McGill University Health Centre) ; van Randeraad, H. (The Foundation for the Detection of Hereditary Cancer) ; Davidson, R. (Queen Elizabeth University Hospital) ; Longmuir, M. (Queen Elizabeth University Hospital) ; Ruijs, M.W.G. (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Helderman van den Enden, A.T.J.M. (Maastricht University Medical Center) ; Adank, M. (Amsterdam UMC) ; Williams, R. (Prince of Wales Hospital (Australia)) ; Andrews, L. (Prince of Wales Hospital (Australia)) ; Murphy, D.G. (Peter MacCallum Cancer Centre) ; Halliday, D. (Oxford Centre for Genomic Medicine) ; Walker, L. (Oxford Centre for Genomic Medicine) ; Liljegren, A. (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Carlsson, S. (Karolinska University Hospital and Karolinska Institutet (Suecia)) ; Azzabi, A. (Newcastle upon Tyne Hospitals) ; Jobson, I. (Newcastle upon Tyne Hospitals) ; Morton, C. (The Royal Melbourne Hospital) ; Shackleton, K. (The Royal Melbourne Hospital) ; Snape, K. (St George's Hospital) ; Hanson, H. (St George's Hospital) ; Harris, M. (Monash Health) ; Tischkowitz, M. (University of Cambridge) ; Taylor, A. (Cambridge University Hospitals NHS Trust) ; Kirk, J. (Sydney Medical School) ; Susman, R. (Royal Brisbane & Women's Hospital) ; Chen-Shtoyerman, R. (Kaplan Medical Center) ; Spigelman, A. (The Kinghorn Cancer Centre. St Vincent's Hospital) ; Pachter, N. (University of Western Australia) ; Ahmed, M. (NE Thames Regional Genetics Service) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Zgajnar, J. (Institute of Oncology) ; Brewer, C. (Royal Devon and Exeter Hospital) ; Gadea, Neus (Hospital Universitari Vall d'Hebron) ; Brady, A.F. (London North West University Healthcare NHS Trust) ; van Os, T. (Academic Medical Center) ; Gallagher, D. (St James's Hospital) ; Johannsson, O. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Donaldson, A. (St Michael's Hospital) ; Barwell, Julian (University Hospitals Leicester) ; Nicolai, N. (Istituto Nazionale dei Tumori) ; Friedman, E. (Chaim Shema Medical Center) ; Obeid, E. (Fox Chase Cancer Center) ; Greenhalgh, L. (Liverpool Women's Hospital) ; Murthy, V. (Tata Memorial Centre) ; Copakova, L. (National Cancer Institute) ; Saya, S. (Institute of Cancer Research) ; McGrath, J. (University of Exeter Medical School) ; Cooke, P. (New Cross Hospital) ; Rønlund, K. (Vejle Hospital) ; Richardson, K. (Peter MacCallum Cancer Centre) ; Henderson, A. (West Cumberland Infirmary) ; Teo, S.H. (Subang Jaya Medical Centre) ; Arun, B. (The University of Texas) ; Kast, K. (Technische Universität Dresden) ; Dias, A. (Instituto Nacional de Cancer Jose de Alencar Gomes da Silva (INCA)) ; Aaronson, Neil K (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Ardern-Jones, A. (Royal Marsden NHS Foundation Trust) ; Bangma, C.H. (Erasmus University Medical Center) ; Castro, E. (Spanish National Cancer Research Center) ; Dearnaley, David (The Institute of Cancer Research) ; Eccles, D.M. (The University of Southampton Medical School) ; Tricker, K. (Central Manchester University Hospitals NHS Foundation Trust) ; Eyfjord, J. (University of Iceland) ; Falconer, A. (Imperial College Healthcare NHS Trust) ; Foster, C. (HCA Pathology Laboratories) ; Gronberg, H. (University Hospital) ; Hamdy, F.C. (University of Oxford) ; Stefansdottir, V. (Landspitali University Hospital (Reykjavík, Islàndia)) ; Khoo, V. (The University of Melbourne) ; Lindeman, G.J. (The Walter and Eliza Hall Institute of Medical Research) ; Lubinski, J. (Pomeranian Medical University in Szczecin) ; Axcrona, K. (Akershus University Hospital) ; Mikropoulos, C. (Medway Hospital) ; Mitra, A. (University College London Hospitals NHS Foundation Trust) ; Moynihan, C. (Institute of Cancer Research) ; Rennert, G. (Carmel Medical Center) ; Suri, M. (Nottingham City Hospital) ; Wilson, P. (Innovate UK. Polaris House) ; Dudderidge, T. (University Hospital Southampton) ; Offman, J. (King's College London) ; Kote-Jarai, Z. (Institute of Cancer Research) ; Vickers, A. (Memorial Sloan Kettering Cancer Center) ; Lilja, H. (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ; Eeles, R.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  
4.
9 p, 213.6 KB Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations / Bancroft, E.K. (Institute of Cancer Research) ; Saya, S. (Institute of Cancer Research) ; Page, E.C. (Institute of Cancer Research) ; Myhill, K. (Institute of Cancer Research) ; Thomas, S. (Institute of Cancer Research) ; Pope, J. (Institute of Cancer Research) ; Chamberlain, A. (Institute of Cancer Research) ; Hart, R. (Birmingham Women's Hospital) ; Glover, W. (Birmingham Women's Hospital) ; Cook, J. (Sheffield Children's Hospital (Sheffield, Regne Unit)) ; Rosario, D.J. (Royal Hallamshire Hospital) ; Helfand, B.T. (NorthShore University HealthSystem) ; Hutten Selkirk, C. (NorthShore University HealthSystem) ; Davidson, R. (Queen Elizabeth University Hospital) ; Longmuir, M. (Queen Elizabeth University Hospital) ; Eccles, D.M. (University of Southampton) ; Gadea, Neus (Hospital Universitari Vall d'Hebron) ; Brewer, C. (Royal Devon and Exeter Hospital) ; Barwell, Julian (University Hospitals Leicester) ; Salinas, Monica (Hospital Universitari de Bellvitge) ; Greenhalgh, L. (Liverpool Women's Hospital) ; Tischkowitz, M. (University of Cambridge) ; Henderson, A. (Newcastle upon Tyne Hospitals) ; Evans, D.G. (Central Manchester University Hospitals NHS Foundation Trust) ; Buys, S.S. (University of Utah Health) ; Eeles, R.A. (Institute of Cancer Research) ; Aaronson, Neil K (The Netherlands Cancer Institute (Amsterdam, Països Baixos)) ; Capellá, 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  
5.
34 p, 2.3 MB Pot1 and damage response malfunction trigger acquisition of somatic activating mutations in the vegf pathway in cardiac angiosarcomas / Calvete, Oriol (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Pavía, Pablo (Universidad Francisco de Vitoria) ; Domınguez, Fernando (Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares) ; Mosteiro, Lluc (Centro Nacional de Investigaciones Oncológicas) ; Perez Cabornero, Lucía (Parque Tecnologico de Valencia) ; Cantalapiedra, Diego (Parque Tecnologico de Valencia) ; Zorio, Esther (Hospital Universitari i Politècnic La Fe (València)) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Crespo-Leiro, Maria Generosa (Instituto de Investigación Biomédica de A Coruña (INIBIC)) ; Teule, Alex (Hospital Universitari de Bellvitge) ; Lazaro Garcia, Conxi (Hospital Universitari de Bellvitge) ; Morente, Manuel M. (Centro Nacional de Investigaciones Oncológicas) ; Urioste, Miguel (Centro Nacional de Investigaciones Oncológicas) ; Benitez, Javier (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Mutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poorly understood. [...]
2019 - 10.1161/JAHA.119.012875
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol. 8 Núm. 18 (2019) , p. e012875  
6.
11 p, 1.1 MB Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients / Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ; Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ; Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ; Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ; Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ; Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ; Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ; Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ; Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ; Alonso, Miguel Ángel (Virgen del Camino Hospital) ; Andrés, Raquel (0000-0002-0762-6415) ; Arévalo, Sara (Hospital of Donostia) ; Arias, Maria del Mar (Virgen del Camino Hospital) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Beristain, Elena (Txagorritxu Hospital) ; Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ; Boronat, Mauro (Hospital of Gran Canaria) ; Brunet, Joan (Institut Català d'Oncologia) ; Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ; del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ; Díaz, Arantza (Móstoles Hospital) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari) ; Barcina, María Jesús (Basurto Hospital) ; González, Margarita (Can Misses Hospital) ; Guitart, Miriam (Parc Taulí Hospital Universitari) ; Hernán, Imma (Terrassa Hospital) ; Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ; Hernando, Susana (Alcorcón Hospital) ; Lacambra, Carmen (Severo Ochoa Hospital) ; Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ; Lastra, Enrique (Hospital of Burgos) ; Llort, Gemma (Parc Taulí Hospital Universitari) ; del Rosario Marín, Maria (Puerta del Mar Hospital) ; Marrupe, David (Móstoles Hospital) ; Martínez, Francisco (Nuestra Señora de La Candelaria Hospital) ; Martínez, Victor (La Paz Hospital) ; Martorell, Loreto (Sant Joan de Déu Hospital) ; Orera, Maria (Gregorio Marañón Hospital) ; Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ; Pérez, Pedro (San Carlos Hospital) ; Pineda, Marta (Institut Català d'Oncologia) ; Plasencia, Ana Maria (Asturias Central Hospital) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Robles, Luis ; Rodà, Diana (Parc Taulí Hospital Universitari) ; Rodríguez, Nuria (La Paz Hospital) ; Rosell Andreo, Jordi (Son Dureta Hospital) ; Sáez, Raquel (Hospital of Donostia) ; Salvat, Monica (Sant Joan de Reus) ; Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ; Santana, Alfredo (Hospital of Gran Canaria) ; Soto, Jose Luis (General Hospital of Elche) ; Toll, Agustin (Del Mar Hospital) ; Tuneu, Anna (Hospital of Donostia) ; Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85  
7.
16 p, 1.2 MB Hereditary leiomyomatosis and renal cell cancer syndrome in spain : Clinical and genetic characterization / Sánchez-Heras, A.B. (Hospital General Universitario de Elche) ; Castillejo, A. (Hospital General Universitario de Elche) ; García-Díaz, J.D. (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ; Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Teulé, Alexandre (Hospital Universitari de Bellvitge) ; Sánchez, R. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Zúñiga, Ángel (Hospital Universitario Politécnico La Fe) ; Lastra, E. (Hospital Universitario de Burgos) ; Durán, M. (Instituto de Biología y Genética Molecular (IBGM-UVA-CSIC)) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Yagüe, C. (Consorci Sanitari de Terrassa) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; San Martin, Consol Lopez (Institut d'Investigació Biomèdica Sant Pau) ; López-Fernández, Adrià (Hospital Universitari Vall d'Hebron) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Robles, L. (Hospital 12 de Octubre (Madrid)) ; Mesa-Latorre, J.M. (Hospital Universitario Príncipe de Asturias (Alcalá de Henares, Madrid)) ; Chirivella, I. (Universitat de València) ; Fonfria, M. (Consorci Hospitalari Provincial de Castelló) ; Ibañez, R.P. (Hospital General Universitario de Elche) ; Castillejo, M.I. (Hospital General Universitario de Elche) ; Escandell, I. (Hospital General Universitario de Elda) ; Gomez, L. (Hospital Universitario Sant Joan de Alicante) ; Berbel, P. (Universidad Miguel Hernández de Elche) ; Soto, J.L. (Hospital General Universitario de Elche) ; Universitat Autònoma de Barcelona
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). [...]
2020 - 10.3390/cancers12113277
Cancers, Vol. 12 Núm. 11 (november 2020) , p. 1-16  
8.
12 p, 1.7 MB Role of POLE and POLD1 in familial cancer / Mur, Pilar (Centro de Investigación Biomédica en Red de Cáncer) ; García-Mulero, Sandra (Hospital Universitari de Bellvitge) ; del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer) ; Magraner-Pardo, Lorena (Spanish National Cancer Research Center (CNIO)) ; Vidal, August (Hospital Universitari de Bellvitge) ; Pineda, Marta (Centro de Investigación Biomédica en Red de Cáncer) ; Cinnirella, Giacomo (Hospital Universitari de Bellvitge) ; Martín-Ramos, Edgar (Universitat de Barcelona) ; Pons, Tirso (Consell Superior d'Investigacions Científiques) ; López-Doriga, Adriana (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Belhadj, Sami (Hospital Universitari de Bellvitge) ; Feliubadaló, Lidia (Centro de Investigación Biomédica en Red de Cáncer) ; Munoz-Torres, Pau M. (Hospital Universitari de Bellvitge) ; Navarro, Matilde (Centro de Investigación Biomédica en Red de Cáncer) ; Grau, Elia (Hospital Universitari de Bellvitge) ; Darder, Esther (Institut Català d'Oncologia) ; Llort, Gemma (Consorci Sanitari de Terrassa) ; Sanz, Judit (Althaia Xarxa Assistencial Universitària de Manresa) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ; Brunet, Joan (Institut Català d'Oncologia) ; Moreno, Víctor (Universitat de Barcelona) ; Piulats, Josep M. (Hospital Universitari de Bellvitge) ; Matías-Guiu, Xavier (Hospital Universitari de Bellvitge) ; Sanz-Pamplona, Rebeca (Centro de Investigación Biomédica en Red de Epidemiologia y Salud Pública (CIBERESP)) ; Aligué, Rosa (Universitat de Barcelona) ; Capellá, Gabriel (Centro de Investigación Biomédica en Red de Cáncer) ; Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ; Valle, Laura (Centro de Investigación Biomédica en Red de Cáncer) ; Universitat Autònoma de Barcelona
Germline pathogenic variants in the exonuclease domain (ED) of polymerases POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC), endometrial tumors, and other malignancies, and exhibit increased mutation rate and highly specific associated mutational signatures. [...]
2020 - 10.1038/s41436-020-0922-2
Genetics in medicine, Vol. 22 Núm. 12 (december 2020) , p. 2089-2100  
9.
11 p, 1.4 MB Prognostic gene expression signature for high-grade serous ovarian cancer / Millstein, Joshua (University of Southern California) ; Budden, Timothy (The University of Manchester) ; Goode, Ellen L. (Mayo Clinic) ; Anglesio, Michael (University of British Columbia) ; Talhouk, Aline (University of British Columbia) ; Intermaggio, Maria Paola (University of NSW Sydney) ; Leong, Hueisan (Peter MacCallum Cancer Center) ; Chen, Stephanie S. (Cedars-Sinai Medical Center) ; Elatre, Wafaa A. (University of Southern California) ; Gilks, Cyril Blake (University of British Columbia) ; Nazeran, Tayyebeh M. (University of British Columbia) ; Volchek, Mila (Royal Women's Hospital) ; Bentley, Rex C. (Duke University Hospital) ; Wang, Chen (Mayo Clinic) ; Chiu, Derek S. (University of British Columbia) ; Kommoss, Stefan (Tuebingen University Hospital) ; Leung, Samuel C. Y. (University of British Columbia) ; Senz, Janine (University of British Columbia) ; Lum, Amy (University of British Columbia) ; Chow, Veronica (University of British Columbia) ; Sudderuddin, Hanwei (University of British Columbia) ; Mackenzie, Robertson (University of British Columbia) ; George, Joshy (The Jackson Laboratory for Genomic Medicine) ; Fereday, Sian (University of Melbourne) ; Hendley, Joy (University of Melbourne) ; Traficante, Nadia (University of Melbourne) ; Steed, Helen (Royal Alexandra Hospital) ; Koziak, Jennifer M. (Alberta Health Services-Cancer Care) ; Köbel, Martin (Foothills Medical Center) ; McNeish, Iain (University of Glasgow) ; Goranova, Teodora Evgenieva (University of Cambridge) ; Ennis, Darren P. (University of Glasgow) ; Macintyre, Geoff (University of Cambridge) ; Silva De Silva, D. (University of Cambridge) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; García Donas, J. (HM Hospitales D Centro Integral Oncológico HM Clara Campal) ; Hernando, Susana (Hospital Universitario Funcacion Alcorcon) ; Rodriguez, Gustavo C. (University of Chicago) ; Cushing-Haugen, Kara L. (Fred Hutchinson Cancer Research Center) ; Harris, Holly Ruth (University of Washington) ; Greene, Casey S. (University of Pennsylvania) ; Zelaya, René A. (Geisel School of Medicine at Dartmouth) ; Behrens, Sabine (German Cancer Research Center (DKFZ)) ; Fortner, Renée T. (German Cancer Research Center (DKFZ)) ; Sinn, Hans-Peter (Heidelberg University Hospital (Alemanya)) ; Herpel, Esther (University Hospital and German Cancer Research Center) ; Lester, Jenny (Cedars-Sinai Medical Center) ; Lubiński, Jan (Pomeranian Medical University) ; Oszurek, Oleg (Pomeranian Medical University) ; Tołoczko, Aleksandra D. (Pomeranian Medical University) ; Cybulski, Cezary (Pomeranian Medical University) ; Menkiszak, Janusz Leszek (Pomeranian Medical University) ; Pearce, Celeste Leigh (University of Southern California Norris Comprehensive Cancer Center) ; Pike, Malcolm C. (Memorial Sloan-Kettering Cancer Center (Nova York, Estats Units d'Amèrica)) ; Tseng, Chiuchen Cheng (University of Southern California) ; Alsop, Jennifer (University of Cambridge) ; Rhenius, Valerie (University of Cambridge) ; Song, Hongan (University of Cambridge) ; Jimenez-Liñan, Mercedes (Addenbrooke's Hospital NHS Trust) ; Piskorz, Anna M. (University of Cambridge) ; Gentry-Maharaj, Aleksandra (University College London) ; Karpinskyj, Chloe (University College London) ; Widschwendter, M. (University College London) ; Singh, Naveena K. (Barts Health National Health Service Trust) ; Kennedy, Catherine J. (Westmead Hospital) ; Harnett, Paul R. (University of Sidney) ; Gao, Bo (Westmead Hospital) ; Johnatty, Sharon E. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ; Sayer, Robyn A. (Westmead Hospital) ; Boros, Jessica (Westmead Hospital) ; Winham, Stacey J. (Mayo Clinic) ; Keeney, Gary L. (Mayo Clinic) ; Kaufmann, Scott H. (Mayo Clinic) ; Larson, Melissa C. (Mayo Clinic) ; Luk, Hugh W. (University of Hawaii Cancer Center) ; Hernandez, Brenda Y. (University of Hawaii Cancer Center) ; Thompson, Pamela J. (Cedars-Sinai Medical Center) ; Wilkens, Lynne Ross (University of Hawaii Cancer Center) ; Carney, Michael E. (University of Hawaii) ; Trabert, Britton (National Cancer Institute) ; Lissowska, Jolanta (M Sklodowska Curie National Research Institute of Oncology) ; Brinton, Louise Annette (National Cancer Institute) ; Sherman, Mark E. (Mayo Clinic College of Medicine) ; Bodelón, Clara (National Cancer Institute) ; Hinsley, Samantha (University of Glasgow) ; Lewsley, Liz Anne (University of Glasgow) ; Glasspool, Rosalind M. (University of Glasgow) ; Banerjee, Susana (The Royal Marsden NHS Foundation Trust and Institute of Cancer Research) ; Stronach, Euan A. (Imperial College London) ; Haluska, Paul J. (Mayo Clinic) ; Ray-Coquard, Isabelle Laure (Centre Leon Berard and University Claude Bernard Lyon 1) ; Mahner, Sven (LMU Munich) ; Winterhoff, Boris J. N. (University of Minnesota) ; Slamon, Dennis J. (University of California at Los Angeles) ; Levine, Douglas A. (NYU Langone Medical Center) ; Kelemen, Linda E. (Medical University of South Carolina) ; Benitez, Javier J. (Centro Nacional de Investigaciones Oncológicas) ; Chang-Claude, J. (University Medical Center Hamburg-Eppendorf) ; Gronwald, Jacek (Pomeranian Medical University) ; Wu, Anna H. (University of Southern California) ; Menon, Usha (MRC University College London) ; Goodman, Marc T. (Cedars-Sinai Medical Center) ; Schildkraut, Joellen M. (Emory University) ; Wentzensen, Nicolas A. (National Cancer Institute) ; Brown, Robert (Imperial College London) ; Berchuck, Andrew (Duke University Hospital) ; Gayther, Simon A. (Cedars-Sinai Medical Center) ; García, M. J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Henderson, Michelle J. (University of NSW Sydney) ; Rossing, Mary Anne (University of Washington) ; Beeghly-Fadiel, Alicia (Vanderbilt University School of Medicine) ; Fasching, Peter Andreas (Friedrich-Alexander-University Erlangen-Nuremberg) ; Orsulic, Sandra (Cedars-Sinai Medical Center) ; Karlan, Beth Y. (Cedars-Sinai Medical Center) ; Konecny, Gottfried Ewald (University of California at Los Angeles) ; Huntsman, David G. (BC Cancer Research Centre) ; Brenton, James D. (University of Cambridge) ; Doherty, Jennifer Anne (University of Utah) ; Pharoah, Paul D. P. (University of Cambridge) ; Ramus, Susan (University of NSW Sydney) ; Universitat Autònoma de Barcelona
Median overall survival (OS) for women with high-grade serous ovarian cancer (HGSOC) is ∼4 years, yet survival varies widely between patients. There are no well-established, gene expression signatures associated with prognosis. [...]
2020 - 10.1016/j.annonc.2020.05.019
Annals of oncology, Vol. 31 Núm. 9 (01 2020) , p. 1240-1250  
10.
12 p, 1.4 MB Risk of cancer in family members of patients with lynch-like syndrome / Picó, M.D. (Hospital General Universitario de Elche) ; Sánchez-Heras, A.B. (Hospital General Universitario de Elche) ; Castillejo, A. (Hospital General Universitario de Elche) ; Giner-Calabuig, M. (Instituto de Investigación Sanitaria ISABIAL) ; Alustiza, M. (Instituto de Investigación Sanitaria ISABIAL) ; Sánchez, Ariadna (Hospital Clínic i Provincial de Barcelona) ; Moreira, Leticia (Hospital Clínic i Provincial de Barcelona) ; Pellise, María (Hospital Clínic i Provincial de Barcelona) ; Castells, Antoni (Hospital Clínic i Provincial de Barcelona) ; Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Yagüe, Carmen (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ; Gisbert-Beamud, Alexandra (Institut d'Investigació Biomèdica Sant Pau) ; Cubiella, J. (Instituto de Investigación Sanitaria Galicia Sur) ; Rivas, L. (Instituto de Investigación Sanitaria Galicia Sur) ; Herraiz, M. (Clínica Universidad de Navarra) ; Garau, C. (Hospital de Son Llàtzer) ; Salces, I. (Hospital 12 de Octubre (Madrid)) ; Carrillo-Palau, M. (Hospital Universitario de Canarias (La Laguna)) ; Bujanda, Luis (Universidad del País Vasco) ; López-Fernández, Adrià (Hospital Universitari Vall d'Hebron) ; Alvarez-Urturi, Cristina (Hospital del Mar (Barcelona, Catalunya)) ; López, M.J. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Alenda, C. (Instituto de Investigación Sanitaria ISABIAL) ; Zapater, P. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ; Lacueva, F.J. (Hospital General Universitario de Elche) ; Balaguer, Francesc (Hospital Clínic i Provincial de Barcelona) ; Soto, J.L. (Hospital General Universitario de Elche) ; Murcia, Ó. (Instituto de Investigación Sanitaria ISABIAL) ; Jover, R. (Instituto de Investigación Sanitaria ISABIAL) ; Universitat Autònoma de Barcelona
Lynch syndrome (LS) is a common cause of hereditary colorectal cancer (CRC). Some CRC patients develop mismatch repair deficiency without germline pathogenic mutation, known as Lynch-like syndrome (LLS). [...]
2020 - 10.3390/cancers12082225
Cancers, Vol. 12 Núm. 8 (august 2020) , p. 1-12  

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