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

RJ, Cho; LB, Alexandrov; Breems NY, den; VS, Atanasova; M, Farshchian; E, Purdom; TN, Nguyen; C, Coarfa; K, Rajapakshe; M, Prisco; J, Sahu; P, Tassone; EJ, Greenawalt; EA, Collisson; W, Wu; H, Yao; X, Su; C, Guttmann-Gruber; JP, Hofbauer; R, Hashmi; I, Fuentes; SC, Benz; J, Golovato; EA, Ehli; CM, Davis; GE, Davies; KR, Covington; DF, Murrell; JC, Salas-Alanis; F, Palisson; AL, Bruckner; W, Robinson; C, Has; L, Bruckner-Tuderman; M, Titeux; MF, Jonkman; E, Rashidghamat; SM, Lwin; JE, Mellerio; JA, McGrath; JW, Bauer; A, Hovnanian; KY, Tsai; AP, South

doi:10.1126/scitranslmed.aas9668

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

Shared by NobleBlocks on Aug 1, 2018 • 12:00 AM UTC

Authors:

Cho RJ

Alexandrov LB

den Breems NY

Abstract

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. ...

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