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  • Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

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Cancer genetics
Original article
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

Authors

  • Isabel Spier Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Dmitriy Drichel German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany PubMed articlesGoogle scholar articles
  • Martin Kerick Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany PubMed articlesGoogle scholar articles
  • Jutta Kirfel Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany Institute of Pathology, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Sukanya Horpaopan Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Anatomy, Faculty of Medical Science, Naresuan University, Phitsanulok, Thailand PubMed articlesGoogle scholar articles
  • Andreas Laner Medizinische Klinik—Campus Innenstadt, Klinikum der LMU, Munich, Germany MGZ—Center of Medical Genetics, Munich, Germany PubMed articlesGoogle scholar articles
  • Stefanie Holzapfel Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Sophia Peters Institute of Human Genetics, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Ronja Adam Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Bixiao Zhao Departments of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA PubMed articlesGoogle scholar articles
  • Tim Becker German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Richard P Lifton Departments of Genetics, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, Connecticut, USA PubMed articlesGoogle scholar articles
  • Sven Perner Section for Prostate Cancer Research, Institute of Pathology, Center for Integrated Oncology Cologne/Bonn, University Hospital of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Per Hoffmann Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany Division of Medical Genetics, University Hospital Basel and Department of Biomedicine, University of Basel, Basel, Switzerland PubMed articlesGoogle scholar articles
  • Glen Kristiansen Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany Institute of Pathology, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Bernd Timmermann Next Generation Sequencing Group, Max Planck Institute for Molecular Genetics, Berlin, Germany PubMed articlesGoogle scholar articles
  • Markus M Nöthen Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  • Elke Holinski-Feder Medizinische Klinik—Campus Innenstadt, Klinikum der LMU, Munich, Germany MGZ—Center of Medical Genetics, Munich, Germany PubMed articlesGoogle scholar articles
  • Michal R Schweiger Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany PubMed articlesGoogle scholar articles
  • Stefan Aretz Institute of Human Genetics, University of Bonn, Bonn, Germany Center for Hereditary Tumor Syndromes, University of Bonn, Bonn, Germany PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Isabel Spier, Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, Bonn D-53127, Germany; isabel.spier{at}uni-bonn.de
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Citation

Spier I, Drichel D, Kerick M, et al
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases
Journal of Medical Genetics 2016;53:172-179.

Publication history

  • Received September 1, 2015
  • Revised October 20, 2015
  • Accepted October 22, 2015
  • First published November 27, 2015.
Online issue publication 
April 27, 2016

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