Original Publication Date: 20 April, 2016
Publication / Source: Epigenomics
Authors: Sand M, Bechara FG, Daniel Sand D et al
Basal cell carcinoma (BCC), is a semimalignant, slow growing, locally infiltrating and the most frequently occurring tumor in humans [1,2]. Although first described in 1900 by Krompecher as ‘carcinoma epitheliale adenoides’, the molecular pathogenesis is today still not completely understood . Mutations of the PTCH1 receptor as part of the SHH signal transduction pathway were demonstrated in 70% of the BCCs in the form of loss-of-function mutations [4–6]. In 10% of all BCCs, gain-of-function mutations of SMOH protein that is naturally present on the cell membrane have been demonstrated .