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| HAL: hal-00281481, version 1 |
| PubMed: 18069663 |
| PubMed Central: 3109865 |
| DOI: 10.1002/gcc.20526 |
| Detailed view |  Export this paper |
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| Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER 47, 3 (2008) 247-52 |
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| Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. |
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| Rachel Linger 1Darshna Dudakia 1 |
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| (2008-03) |
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| A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents. |
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| 1: | Section of Cancer Genetics |
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Institute of cancer research |
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| 2: | Academic Radiotherapy Unit |
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Institute of cancer research |
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| 3: | Dept of Medical Oncology, Division of Medicine |
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Prince of Wales Hospital Randwick – University of New South Wales |
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| 4: | Dept of Haematology and Medical Oncology |
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Peter MacCallum Cancer Centre |
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| 5: | Princess Margaret Hospital |
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Princess Margaret Hospital – University of Toronto |
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| 6: | Dept of Radiotherapy and Oncology |
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University hospital of Prague |
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| 7: | Dept of Oncology |
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Rigshospitalet |
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| 8: | Laboratoire Charles Fabry de l'Institut d'Optique (LCFIO) |
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Institut d'Optique Graduate School (IOGS) – CNRS : UMR8501 – Université Paris XI - Paris Sud |
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| 9: | Thales Research and Technologies [Orsay] (TRT) |
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THALES |
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| 10: | Institut d'Electronique Fondamentale |
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Aucune |
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| 11: | Centre lillois d'études et de recherches sociologiques et économiques (CLERSE) |
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CNRS : UMR8019 – Université Lille I - Sciences et technologies |
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| 12: | Physiopathologie cardiovasculaire |
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INSERM : U637 – IFR3 – Université Montpellier I |
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| 13: | Laboratoire d'analyse et d'architecture des systèmes (LAAS) |
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CNRS : UPR8001 – Université Paul Sabatier [UPS] - Toulouse III – Institut National Polytechnique de Toulouse - INPT – Institut National des Sciences Appliquées (INSA) - Toulouse |
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| 14: | Institut Camille Jordan (ICJ) |
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CNRS : UMR5208 – Université Claude Bernard - Lyon I – Ecole Centrale de Lyon – Institut National des Sciences Appliquées (INSA) - Lyon |
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| 15: | Génétique oncologique (GO) |
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CNRS : UMR8125 – Institut Gustave Roussy – Université Paris XI - Paris Sud |
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| 16: | Service d'urologie |
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Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Bicêtre – Université Paris XI - Paris Sud |
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| 17: | Laboratoire d'aérologie (LA) |
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CNRS : UMR5560 – Observatoire Midi-Pyrénées – INSU – Université Paul Sabatier [UPS] - Toulouse III |
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| 18: | Centre de Recherches Biologiques |
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CERB |
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| 19: | Génomes et cancer (GC) |
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CNRS : FRE2939 – Institut Gustave Roussy – Université Paris XI - Paris Sud |
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| 20: | IFP Energies Nouvelles (IFPEN) |
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IFP Energies Nouvelles |
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| 21: | Département de Pédiatrie |
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Institut Gustave Roussy |
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| 22: | Epidémiologie des cancers |
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INSERM : U521 |
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| 23: | Consultation d'Oncogénétique |
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Institut Gustave Roussy – Département de médecine |
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| 24: | Département de médecine |
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Institut Gustave Roussy |
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| 25: | Département d'oncologie |
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Institut Gustave Roussy |
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| 26: | Service de Génétique Oncologique |
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Institut Curie – Université Paris V - Paris Descartes |
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| 27: | Département de génétique |
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Institut Curie |
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| 28: | Unité de génétique et biologie des cancers |
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INSERM : U830 – Institut Curie – Université Pierre et Marie Curie [UPMC] - Paris VI |
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| 29: | Génétique épidémiologique et structures des populations humaines |
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INSERM : U535 – IFR69 – Université Paris XI - Paris Sud |
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| 30: | Epidémiologie génétique |
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INSERM : U155 |
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| 31: | Dept of Urological Oncology |
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Phillips university |
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| 32: | Department of Urology |
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Klinikum Kassel GmbH |
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| 33: | Department of Molecular Genetics and Department of Chemotherapy |
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National Institute of Oncology |
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| 34: | National Institute of Oncology |
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National Institute of Oncology |
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| 35: | Department of Medical Oncology |
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St James's hospital |
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| 36: | Cancer Genetics Laboratory |
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University of Otago |
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| 37: | Departments of Clinical Cancer Research and genetics |
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Rikshospitalet-Radiumhospitalet Trust |
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| 38: | Laboratory of Clinical Genetics |
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Institute of Clinical Oncology |
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| 39: | Medical Oncology |
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University hospital of Basel |
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| 40: | Max Planck Institute für Metallforschung |
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Max-Planck-Institut |
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| 41: | Google Inc.® |
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Google Inc.® |
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| 42: | Institut de Physique et Chimie des Matériaux de Strasbourg (IPCMS) |
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CNRS : UMR7504 – Université Louis Pasteur - Strasbourg I |
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| 43: | Department of Medical Oncology |
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Barts and The London Queen Mary's School of Medicine |
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| 44: | Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics |
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NIH – National Cancer Institute |
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| 45: | Depts of Medicine and Biostatistics and Epidemology |
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Abramson Family Cancer Research Institute – University of Pennsylvania School of Medicine |
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| 46: | Department of Preventive Medicine |
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Keck School of Medicine |
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| 47: | Cancer Research U.K. Genetic Epidemiology Unit |
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Strangeways Research Laboratory |
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| 48: | Genetic Epidemiology Unit, Department of Public Health and Primary Care |
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University of Cambridge |
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| 49: | Genetic Epidemiology Division, Cancer Research UK Clinical Centre |
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Saint James's University Hospital |
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| Subject | : | Life Sciences/Other |
| hal-00281481, version 1 | |
| http://hal.archives-ouvertes.fr/hal-00281481 | |
| oai:hal.archives-ouvertes.fr:hal-00281481 | |
| From: Christelle Bouchot | |
| Submitted on: Thursday, 22 May 2008 15:47:44 | |
| Updated on: Friday, 15 October 2010 14:15:52 | |
