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

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Science Translational Medicine  22 Aug 2018:
Vol. 10, Issue 455, eaas9668
DOI: 10.1126/scitranslmed.aas9668

Article Information

vol. 10 no. 455

PubMed: 
Print ISSN: 
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History: 
  • Received for publication January 12, 2018
  • Resubmitted April 9, 2018
  • Accepted for publication August 1, 2018
  • .

Author Information

  1. Raymond J. Cho1,
  2. Ludmil B. Alexandrov2,
  3. Nicoline Y. den Breems3,
  4. Velina S. Atanasova4,
  5. Mehdi Farshchian4,
  6. Elizabeth Purdom5,
  7. Tran N. Nguyen6,
  8. Cristian Coarfa7,
  9. Kimal Rajapakshe7,
  10. Marco Prisco4,
  11. Joya Sahu4,
  12. Patrick Tassone8,
  13. Evan J. Greenawalt4,
  14. Eric A. Collisson9,10,
  15. Wei Wu9,10,11,
  16. Hui Yao12,
  17. Xiaoping Su12,
  18. Christina Guttmann-Gruber13,
  19. Josefina Piñón Hofbauer13,
  20. Raabia Hashmi4,
  21. Ignacia Fuentes14,15,
  22. Stephen C. Benz16,
  23. Justin Golovato17,
  24. Erik A. Ehli18,
  25. Christel M. Davis18,
  26. Gareth E. Davies18,
  27. Kyle R. Covington19,
  28. Dedee F. Murrell20,
  29. Julio C. Salas-Alanis21,
  30. Francis Palisson14,22,
  31. Anna L. Bruckner23,
  32. William Robinson24,
  33. Cristina Has25,
  34. Leena Bruckner-Tuderman25,
  35. Matthias Titeux26,27,
  36. Marcel F. Jonkman28,
  37. Elham Rashidghamat29,
  38. Su M. Lwin29,
  39. Jemima E. Mellerio29,
  40. John A. McGrath29,
  41. Johann W. Bauer13,
  42. Alain Hovnanian26,27,
  43. Kenneth Y. Tsai6 and
  44. Andrew P. South4,*
  1. 1Department of Dermatology, University of California, San Francisco, CA 94115, USA.
  2. 2Department of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
  3. 3Department of Mathematics, University of Auckland, Auckland 1010, New Zealand.
  4. 4Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  5. 5Department of Statistics, University of California, Berkeley, Berkeley, CA 94720, USA.
  6. 6Departments of Anatomic Pathology and Tumor Biology, Moffitt Cancer Center, Tampa, FL 33612, USA.
  7. 7Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.
  8. 8Department of Otolaryngology–Head and Neck Surgery, Thomas Jefferson University, Philadelphia, PA 19107, USA.
  9. 9Department of Medicine, University of California, San Francisco, San Francisco, CA 94115, USA.
  10. 10Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
  11. 11Translational Medical Center, Central Hospital, Zhengzhou University, Zhengzhou, China.
  12. 12Bioinformatics and Computational Biology, MD Anderson Cancer Center, Houston, TX 77030, USA.
  13. 13EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, A-5020 Salzburg, Austria.
  14. 14Fundación DEBRA Chile, Santiago 7760099, Chile.
  15. 15Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 7710162, Chile.
  16. 16NantOmics LLC, Santa Cruz, CA 95060, USA.
  17. 17NantOmics LLC, Culver City, CA 90233, USA.
  18. 18Avera Institute for Human Genetics, Sioux Falls, SD 57108, USA.
  19. 19Castle Biosciences Inc., Friendswood, TX 77546, USA.
  20. 20St. George Hospital, University of New South Wales, Sydney, New South Wales 2217, Australia.
  21. 21Escuela de Medicina y Ciencias de la Salud TecSalud del Tecnologico de Monterrey, Morones Prieto 3000, Los doctores, Monterrey, Nuevo León 64710, Mexico.
  22. 22Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7710162, Chile.
  23. 23Departments of Dermatology and Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
  24. 24Cutaneous Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
  25. 25Department of Dermatology, Medical Center–University of Freiburg, 79104 Freiburg, Germany.
  26. 26INSERM UMR 1163, Paris, France.
  27. 27Imagine Institute, 75015 Paris, France.
  28. 28Center for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, Netherlands.
  29. 29St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.
  1. *Corresponding author. Email: andrew.south{at}jefferson.edu

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