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

Author:

Cho Raymond J.1ORCID,Alexandrov Ludmil B.2ORCID,den Breems Nicoline Y.3,Atanasova Velina S.4,Farshchian Mehdi4,Purdom Elizabeth5ORCID,Nguyen Tran N.6,Coarfa Cristian7ORCID,Rajapakshe Kimal7ORCID,Prisco Marco4,Sahu Joya4,Tassone Patrick8ORCID,Greenawalt Evan J.4,Collisson Eric A.910,Wu Wei91011,Yao Hui12,Su Xiaoping12,Guttmann-Gruber Christina13ORCID,Hofbauer Josefina Piñón13ORCID,Hashmi Raabia4,Fuentes Ignacia1415,Benz Stephen C.16ORCID,Golovato Justin17ORCID,Ehli Erik A.18ORCID,Davis Christel M.18ORCID,Davies Gareth E.18,Covington Kyle R.19,Murrell Dedee F.20ORCID,Salas-Alanis Julio C.21ORCID,Palisson Francis1422,Bruckner Anna L.23,Robinson William24,Has Cristina25ORCID,Bruckner-Tuderman Leena25,Titeux Matthias2627ORCID,Jonkman Marcel F.28ORCID,Rashidghamat Elham29,Lwin Su M.29ORCID,Mellerio Jemima E.29,McGrath John A.29,Bauer Johann W.13,Hovnanian Alain2627ORCID,Tsai Kenneth Y.6ORCID,South Andrew P.4ORCID

Affiliation:

1. Department of Dermatology, University of California, San Francisco, CA 94115, USA.

2. Department of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.

3. Department of Mathematics, University of Auckland, Auckland 1010, New Zealand.

4. Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

5. Department of Statistics, University of California, Berkeley, Berkeley, CA 94720, USA.

6. Departments of Anatomic Pathology and Tumor Biology, Moffitt Cancer Center, Tampa, FL 33612, USA.

7. Molecular and Cellular Biology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

8. Department of Otolaryngology–Head and Neck Surgery, Thomas Jefferson University, Philadelphia, PA 19107, USA.

9. Department of Medicine, University of California, San Francisco, San Francisco, CA 94115, USA.

10. Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.

11. Translational Medical Center, Central Hospital, Zhengzhou University, Zhengzhou, China.

12. Bioinformatics and Computational Biology, MD Anderson Cancer Center, Houston, TX 77030, USA.

13. EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, A-5020 Salzburg, Austria.

14. Fundación DEBRA Chile, Santiago 7760099, Chile.

15. Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 7710162, Chile.

16. NantOmics LLC, Santa Cruz, CA 95060, USA.

17. NantOmics LLC, Culver City, CA 90233, USA.

18. Avera Institute for Human Genetics, Sioux Falls, SD 57108, USA.

19. Castle Biosciences Inc., Friendswood, TX 77546, USA.

20. St. George Hospital, University of New South Wales, Sydney, New South Wales 2217, Australia.

21. Escuela de Medicina y Ciencias de la Salud TecSalud del Tecnologico de Monterrey, Morones Prieto 3000, Los doctores, Monterrey, Nuevo León 64710, Mexico.

22. Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7710162, Chile.

23. Departments of Dermatology and Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.

24. Cutaneous Oncology, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

25. Department of Dermatology, Medical Center–University of Freiburg, 79104 Freiburg, Germany.

26. INSERM UMR 1163, Paris, France.

27. Imagine Institute, 75015 Paris, France.

28. Center for Blistering Diseases, Department of Dermatology, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, Netherlands.

29. St. John’s Institute of Dermatology, King’s College London (Guy’s Campus), London SE1 9RT, UK.

Abstract

Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.

Funder

Sohana Research Fund

EB Research Partnership

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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