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Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Palles, Claire; West, Hannah D; Chew, Edward; Galavotti, Sara; Flensburg, Christoffer; Grolleman, Judith E; Jansen, Erik A M; Curley, Helen; Chegwidden, Laura; Arbe-Barnes, Edward H; Lander, Nicola; Truscott, Rebekah; Pagan, Judith; Bajel, Ashish; Sherwood, Kitty; Martin, Lynn; Thomas, Huw; Georgiou, Demetra; Fostira, Florentia; Goldberg, Yael; Adams, David J; van der Biezen, Simone A M; Christie, Michael; Clendenning, Mark; Thomas, Laura E; Deltas, Constantinos; Dimovski, Aleksandar J; Dymerska, Dagmara; Lubinski, Jan; Mahmood, Khalid; van der Post, Rachel S; Sanders, Mathijs; Weitz, Jürgen; Taylor, Jenny C; Turnbull, Clare; Vreede, Lilian; van Wezel, Tom; Whalley, Celina; Arnedo-Pac, Claudia; Caravagna, Giulio; Cross, William; Chubb, Daniel; Frangou, Anna; Gruber, Andreas J; Kinnersley, Ben; Noyvert, Boris; Church, David; Graham, Trevor; Houlston, Richard; Lopez-Bigas, Nuria.
Affiliation
  • Palles C; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • West HD; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
  • Chew E; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
  • Galavotti S; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Flensburg C; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia.
  • Grolleman JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • Jansen EAM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • Curley H; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Chegwidden L; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Arbe-Barnes EH; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Lander N; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
  • Truscott R; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University, School of Medicine, Cardiff, UK.
  • Pagan J; Molecular Genetics Laboratory, South East Scotland Genetic Service, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK.
  • Bajel A; Peter MacCallum Cancer Center and Royal Melbourne Hospital, Victorian Comprehensive Cancer Centre, Parkville, VIC, Australia.
  • Sherwood K; Edinburgh Cancer Research Centre, IGMM, University of Edinburgh, Crewe Road, Edinburgh EH4 2XR, UK.
  • Martin L; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Thomas H; St Mark's Hospital, Imperial College London, London, UK.
  • Georgiou D; Genomic Medicine, Imperial College Healthcare Trust and North West Thames Regional Genetics Service, Northwick Park, Harrow, UK.
  • Fostira F; Molecular Diagnostics Laboratory, NCSR Demokritos, Athens, Greece.
  • Goldberg Y; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Adams DJ; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • van der Biezen SAM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • Christie M; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia.
  • Clendenning M; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, Australia.
  • Thomas LE; Institute of Life Sciences, Swansea University, Swansea SA28PP, UK.
  • Deltas C; Center of Excellence in Biobanking and Biomedical Research and Molecular Medicine Research Center, University of Cyprus Medical School, Nicosia, Cyprus.
  • Dimovski AJ; Center for Biomolecular Pharmaceutical Analyzes, UKIM Faculty of Pharmacy, 1000 Skopje, Republic of Macedonia.
  • Dymerska D; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Lubinski J; Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, 70-111 Szczecin, Poland.
  • Mahmood K; Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, VIC, Australia.
  • van der Post RS; Department of Pathology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • Sanders M; Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Weitz J; Department of Surgical Research, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.
  • Taylor JC; Oxford NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Turnbull C; Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
  • Vreede L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 Nijmegen, the Netherlands.
  • van Wezel T; Department of Pathology, Leiden University Medical Center, 2300 Leiden, the Netherlands.
  • Whalley C; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Arnedo-Pac C; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Caravagna G; Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
  • Cross W; Cancer Institute, University College London, 72 Huntley Street, London WC1E 6BT, UK.
  • Chubb D; Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
  • Frangou A; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Gruber AJ; Manchester Interdisciplinary Biocentre, University of Manchester, Manchester M1 7DN, UK.
  • Kinnersley B; Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
  • Noyvert B; Institute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.
  • Church D; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
  • Graham T; Barts Cancer Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Houlston R; Institute of Cancer Research, Cotswold Road, Sutton, Surrey SM2 5NG, UK.
  • Lopez-Bigas N; Institute for Research in Biomedicine, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Am J Hum Genet ; 109(5): 953-960, 2022 05 05.
Article in En | MEDLINE | ID: mdl-35460607
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uveal Neoplasms / Colorectal Neoplasms / Adenomatous Polyposis Coli Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2022 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Uveal Neoplasms / Colorectal Neoplasms / Adenomatous Polyposis Coli Type of study: Etiology_studies / Prognostic_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2022 Type: Article Affiliation country: United kingdom