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Identification of 22 susceptibility loci associated with testicular germ cell tumors.
Pluta, John; Pyle, Louise C; Nead, Kevin T; Wilf, Rona; Li, Mingyao; Mitra, Nandita; Weathers, Benita; D'Andrea, Kurt; Almstrup, Kristian; Anson-Cartwright, Lynn; Benitez, Javier; Brown, Christopher D; Chanock, Stephen; Chen, Chu; Cortessis, Victoria K; Ferlin, Alberto; Foresta, Carlo; Gamulin, Marija; Gietema, Jourik A; Grasso, Chiara; Greene, Mark H; Grotmol, Tom; Hamilton, Robert J; Haugen, Trine B; Hauser, Russ; Hildebrandt, Michelle A T; Johnson, Matthew E; Karlsson, Robert; Kiemeney, Lambertus A; Lessel, Davor; Lothe, Ragnhild A; Loud, Jennifer T; Loveday, Chey; Martin-Gimeno, Paloma; Meijer, Coby; Nsengimana, Jérémie; Quinn, David I; Rafnar, Thorunn; Ramdas, Shweta; Richiardi, Lorenzo; Skotheim, Rolf I; Stefansson, Kari; Turnbull, Clare; Vaughn, David J; Wiklund, Fredrik; Wu, Xifeng; Yang, Daphne; Zheng, Tongzhang; Wells, Andrew D; Grant, Struan F A.
Afiliación
  • Pluta J; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Pyle LC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Nead KT; Department of Radiation Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Wilf R; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Li M; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Mitra N; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Weathers B; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • D'Andrea K; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Almstrup K; Department of Growth and Reproduction, Rigshospitalet, Copenhagen, Denmark.
  • Anson-Cartwright L; Department of Surgery (Urology), University of Toronto and The Princess Margaret Cancer Centre, Toronto, ON, Canada.
  • Benitez J; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
  • Brown CD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Chanock S; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA.
  • Chen C; Program in Epidemiology, Fred Hutchinson Cancer Research Center; Department of Epidemiology, University of Washington, Seattle, WA, USA.
  • Cortessis VK; Departments of Preventive Medicine and Obstetrics and Gynecology, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA.
  • Ferlin A; Unit of Endocrinology and Metabolism, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
  • Foresta C; Unit of Andrology and Reproductive Medicine, Department of Medicine, University of Padova, Padova, Italy.
  • Gamulin M; Department of Oncology, Division of Medical Oncology, University Hospital Centre Zagreb, University of Zagreb School of Medicine, Zagreb, Croatia.
  • Gietema JA; Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
  • Grasso C; Cancer Epidemiology Unit, Department of Medical Sciences, University of Turin and CPO-Piemonte, Turin, Italy.
  • Greene MH; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA.
  • Grotmol T; Department of Research, Cancer Registry of Norway, Oslo, Norway.
  • Hamilton RJ; Department of Surgery (Urology), University of Toronto and The Princess Margaret Cancer Centre, Toronto, ON, Canada.
  • Haugen TB; Faculty of Health Sciences, OsloMet-Oslo Metropolitan University, Oslo, Norway.
  • Hauser R; Department of Environmental Health, Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Hildebrandt MAT; Department of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
  • Johnson ME; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Karlsson R; Center for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Kiemeney LA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
  • Lessel D; Radboud University Medical Center, Nijmegen, Netherlands.
  • Lothe RA; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Loud JT; Department of Molecular Oncology, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
  • Loveday C; Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Martin-Gimeno P; Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Bethesda, MD, USA.
  • Meijer C; Division of Genetics & Epidemiology, The Institute of Cancer Research, London, UK.
  • Nsengimana J; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
  • Quinn DI; Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
  • Rafnar T; Biostatistics Research Group, Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle, UK.
  • Ramdas S; Division of Oncology, Keck School of Medicine at the University of Southern California, Los Angeles, CA, USA.
  • Richiardi L; deCODE Genetics/Amgen, Reykjavik, Iceland.
  • Skotheim RI; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Stefansson K; Cancer Epidemiology Unit, Department of Medical Sciences, University of Turin and CPO-Piemonte, Turin, Italy.
  • Turnbull C; Department of Molecular Oncology, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
  • Vaughn DJ; Department of Informatics, Faculty of Mathematics and Natural Sciences, University of Oslo, Oslo, Norway.
  • Wiklund F; deCODE Genetics/Amgen, Reykjavik, Iceland.
  • Wu X; Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
  • Yang D; William Harvey Research Institute, Queen Mary University, London, UK.
  • Zheng T; Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Wells AD; Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Grant SFA; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Nat Commun ; 12(1): 4487, 2021 07 23.
Article en En | MEDLINE | ID: mdl-34301922
Testicular germ cell tumors (TGCT) are the most common tumor in young white men and have a high heritability. In this study, the international Testicular Cancer Consortium assemble 10,156 and 179,683 men with and without TGCT, respectively, for a genome-wide association study. This meta-analysis identifies 22 TGCT susceptibility loci, bringing the total to 78, which account for 44% of disease heritability. Men with a polygenic risk score (PRS) in the 95th percentile have a 6.8-fold increased risk of TGCT compared to men with median scores. Among men with independent TGCT risk factors such as cryptorchidism, the PRS may guide screening decisions with the goal of reducing treatment-related complications causing long-term morbidity in survivors. These findings emphasize the interconnected nature of two known pathways that promote TGCT susceptibility: male germ cell development within its somatic niche and regulation of chromosomal division and structure, and implicate an additional biological pathway, mRNA translation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Testiculares / Neoplasias de Células Germinales y Embrionarias / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Neoplasias Testiculares / Neoplasias de Células Germinales y Embrionarias / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido