APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

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  • Raymond J. Cho
    Department of Dermatology, University of California, San Francisco, CA 94115, USA.
  • Ludmil B. Alexandrov
    Department of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
  • Nicoline Y. den Breems
    Department of Mathematics, University of Auckland, Auckland 1010, New Zealand.
  • Velina S. Atanasova
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Mehdi Farshchian
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Elizabeth Purdom
    Department of Statistics, University of California, Berkeley, Berkeley, CA 94720, USA.
  • Tran N. Nguyen
    Departments of Anatomic Pathology and Tumor Biology, Moffitt Cancer Center, Tampa, FL 33612, USA.
  • Cristian Coarfa
    Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Kimal Rajapakshe
    Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  • Marco Prisco
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Joya Sahu
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Patrick Tassone
    Department of Otolaryngology–Head and Neck Surgery, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Evan J. Greenawalt
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Eric A. Collisson
    Department of Medicine, University of California, San Francisco, San Francisco, CA 94115, USA.
  • Wei Wu
    Department of Medicine, University of California, San Francisco, San Francisco, CA 94115, USA.
  • Hui Yao
    Bioinformatics and Computational Biology, MD Anderson Cancer Center, Houston, TX 77030, USA.
  • Xiaoping Su
    Bioinformatics and Computational Biology, MD Anderson Cancer Center, Houston, TX 77030, USA.
  • Christina Guttmann-Gruber
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, A-5020 Salzburg, Austria.
  • Josefina Piñón Hofbauer
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, A-5020 Salzburg, Austria.
  • Raabia Hashmi
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  • Ignacia Fuentes
    Fundación DEBRA Chile, Santiago 7760099, Chile.
  • Stephen C. Benz
    NantOmics LLC, Santa Cruz, CA 95060, USA.
  • Justin Golovato
    NantOmics LLC, Culver City, CA 90233, USA.
  • Erik A. Ehli
    Avera Institute for Human Genetics, Sioux Falls, SD 57108, USA.
  • Christel M. Davis
    Avera Institute for Human Genetics, Sioux Falls, SD 57108, USA.
  • Gareth E. Davies
    Avera Institute for Human Genetics, Sioux Falls, SD 57108, USA.
  • Kyle R. Covington
    Castle Biosciences Inc., Friendswood, TX 77546, USA.
  • Dedee F. Murrell
    St. George Hospital, University of New South Wales, Sydney, New South Wales 2217, Australia.
  • Julio C. Salas-Alanis
    Escuela de Medicina y Ciencias de la Salud TecSalud del Tecnologico de Monterrey, Morones Prieto 3000, Los doctores, Monterrey, Nuevo León 64710, Mexico.
  • Francis Palisson
    Fundación DEBRA Chile, Santiago 7760099, Chile.
  • Anna L. Bruckner
    Departments of Dermatology and Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
  • William Robinson
    Cutaneous Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
  • Cristina Has
    Department of Dermatology, Medical Center–University of Freiburg, 79104 Freiburg, Germany.
  • Leena Bruckner-Tuderman
    Department of Dermatology, Medical Center–University of Freiburg, 79104 Freiburg, Germany.
  • Matthias Titeux
    INSERM UMR 1163, Paris, France.
  • Marcel F. Jonkman
    Center for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, Netherlands.
  • Elham Rashidghamat
    St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.
  • Su M. Lwin
    St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.
  • Jemima E. Mellerio
    St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.
  • John A. McGrath
    St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.
  • Johann W. Bauer
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, A-5020 Salzburg, Austria.
  • Alain Hovnanian
    INSERM UMR 1163, Paris, France.
  • Kenneth Y. Tsai
    Departments of Anatomic Pathology and Tumor Biology, Moffitt Cancer Center, Tampa, FL 33612, USA.
  • Andrew P. South
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

抄録

<jats:p>Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.</jats:p>

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