Molecular alterations in basal cell carcinoma subtypes
Overall, 12 genes (CSMD1, CSMD2, DPH3 promoter, PTCH1, SMO, GLI1, NOTCH1, NOTCH2, TP53, ITIH2, DPP10, STEAP4) were selected on the basis of a comprehensive literature search and interrogation of different bioinformatics sources like the Catalogue of Somatic Mutations in Cancer (COSMIC) and The Cancer Genome Atlas (TCGA), for the custom gene-panel design using Ion AmpliSeq Designer tool. Library preparation was performed using the Ion Ampliseq Library kits 2.0 with 20 ng of DNA as input. After clonal amplification on the Ion One Touch2 System and subsequent enrichment on the Ion One Touch ES, libraries were sequenced on the Ion Torrent Ion PGM System (Thermo Fisher Scientific, Waltham, MA USA).