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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
Affiliation:1. Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK;2. Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK;3. Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia;4. Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands;5. Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK;6. Molecular Genetics Laboratory, South East Scotland Genetic Service, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK;7. Peter MacCallum Cancer Center and Royal Melbourne Hospital, Victorian Comprehensive Cancer Centre, Parkville, VIC, Australia;8. Edinburgh Cancer Research Centre, IGMM, University of Edinburgh, Crewe Road, Edinburgh EH4 2XR, UK;9. St Mark’s Hospital, Imperial College London, London, UK;10. Genomic Medicine, Imperial College Healthcare Trust and North West Thames Regional Genetics Service, Northwick Park, Harrow, UK;11. Molecular Diagnostics Laboratory, NCSR Demokritos, Athens, Greece;12. Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel;13. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;14. Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK;15. Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia;16. University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, Australia;17. Institute of Life Sciences, Swansea University, Swansea SA28PP, UK;18. Center of Excellence in Biobanking and Biomedical Research and Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus;19. Center for Biomolecular Pharmaceutical Analyzes, UKIM Faculty of Pharmacy, 1000 Skopje, Republic of Macedonia;20. Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland;21. Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands;22. Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands;23. Department of Surgical Research, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany;24. Oxford NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK;25. Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK;26. Department of Pathology, Leiden University Medical Center, 2300 Leiden, the Netherlands;27. Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain;28. Cancer Institute, University College London, 72 Huntley Street, London WC1E 6BT, UK;29. Manchester Interdisciplinary Biocentre, University of Manchester, Manchester M1 7DN, UK;30. Barts Cancer Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK;31. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia;32. Princess Máxima Center for Pediatric Oncology, 3584 Utrecht, the Netherlands;33. University of Melbourne, Department of Medical Biology, 1G Royal Parade, Parkville, VIC 3052, Australia;34. Department of Pathology and Molecular Pathology, University Hospital Zurich, University of Zurich, Zürich, Switzerland;35. Servicio de Digestivo, Hospital Lucus Augusti, Instituto de Investigación Sanitaria de Santiago, Lugo, Galicia, Spain;36. Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, VIC, Australia;37. Department of Medicine, Melbourne Medical School, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, VIC, Australia;38. Fundación Pública Galega de Medicina Xenómica SERGAS, Grupo de Medicina Xenómica-USC, Instituto de Investigación Sanitaria de Santiago, Centro de Investigación Biomédica en Red de Enfermedades Raras, Santiago de Compostela, Galicia, Spain;39. Department of Medical Oncology, Cork University Hospital, Cork, Ireland;40. Department of Clinical Genetics, Children’s Health Ireland, Dublin, Ireland; School of Medicine University College, Dublin, Ireland
Abstract:
Keywords:polyposis  colorectal cancer  5′-methylcytosine deamination  mutational signature  mutator phenotype
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