298 Defective DNA Repair and Chromosomal Instability in RDEB

Recessive Dystrophic Epidermolysis Bullosa (RDEB), caused by mutations in COL7A1 leading to a reduction or loss of type VII collagen (Col7), is a severe blistering disease associated with an increased risk of developing aggressive squamous cell carcinoma. Using RNASeq global transcriptomics we identified dysregulation of genes involved in cell cycle control, DNA damage response and chromosomal instability (CIN) with loss of keratinocyte Col7. To...