APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa
Journal
Science Translational Medicine
ISSN
1946-6234
1946-6242
Date Issued
2018
Author(s)
Raymond J. Cho
Ludmil B. Alexandrov
Nicoline Y. den Breems
Velina S. Atanasova
Mehdi Farshchian
Elizabeth Purdom
Tran N. Nguyen
Cristian Coarfa
Kimal Rajapakshe
Marco Prisco
Joya Sahu
Patrick Tassone
Evan J. Greenawalt
Eric A. Collisson
Wei Wu
Hui Yao
Xiaoping Su
Christina Guttmann-Gruber
Josefina Piñón Hofbauer
Raabia Hashmi
Stephen C. Benz
Justin Golovato
Erik A. Ehli
Christel M. Davis
Gareth E. Davies
Kyle R. Covington
Dedee F. Murrell
Julio C. Salas-Alanis
Anna L. Bruckner
William Robinson
Cristina Has
Leena Bruckner-Tuderman
Matthias Titeux
Marcel F. Jonkman
Elham Rashidghamat
Su M. Lwin
Jemima E. Mellerio
John A. McGrath
Johann W. Bauer
Alain Hovnanian
Kenneth Y. Tsai
Andrew P. South
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Abstract
<jats:p>Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.</jats:p>
Subjects
comprehensive genomic characterization
;
burrows-wheeler transform
;
human cancer
;
breast-cancer
;
somatic mutations
;
read alignment
;
heterogeneity
;
signatures
;
evolution
;
identification