Article
APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Science translational medicine - 22 Aug 2018
Cho Raymond J, Alexandrov Ludmil B, den Breems Nicoline Y, Atanasova Velina S, Farshchian Mehdi, Purdom Elizabeth, Nguyen Tran N, Coarfa Cristian, Rajapakshe Kimal, Prisco Marco, Sahu Joya, Tassone Patrick, Greenawalt Evan J, Collisson Eric A, Wu Wei, Yao Hui, Su Xiaoping, Guttmann-Gruber Christina, Hofbauer Josefina Piñón, Hashmi Raabia, Fuentes Ignacia, Benz Stephen C, Golovato Justin, Ehli Erik A, Davis Christel M, Davies Gareth E, Covington Kyle R, Murrell Dedee F, Salas-Alanis Julio C, Palisson Francis, Bruckner Anna L, Robinson William, Has Cristina, Bruckner-Tuderman Leena, Titeux Matthias, Jonkman Marcel F, Rashidghamat Elham, Lwin Su M, Mellerio Jemima E, McGrath John A, Bauer Johann W, Hovnanian Alain, Tsai Kenneth Y, South Andrew P
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin and mucous membrane fragility disorder complicated by early-onset, highly malignant cutaneous squamous cell carcinomas (SCCs). The molecular etiology of RDEB SCC, which arises at sites of sustained tissue damage, is unknown. We performed detailed molecular analysis using whole-exome, whole-genome, and RNA sequencing of 27 RDEB SCC tumors,...
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