Locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile

Abstract

noninflamed follicular comedones and with postinflammatory pigmentation. C. Postinflammatory hyperpigmentation HS scars. D. Comparison of a normal and mutant partial chromatograph of DNA from family UR-252. The insertion of 2-nt (CC) at nucleotide position 687 of human NCSTN is shown. E. The truncated protein is predicted to terminate at codon 261 after the addition of 31 novel amino acids within exon 6 of NCSTN. Figure S2. A. Family UR-253 with acne conglobata (AC) was previously reported by Chandramohan (S17). The pedigree consists of 23 members with seven affecteds. Squamous cell carcinoma in the perianal region was observed in one affected member. Affected individuals are shown with black symbols and normal individuals with clear symbols. Individuals with a slash across their symbol were deceased. B. Clinical manifestations of an affected subject (III-6) with AC lesions demonstrating inflammatory (papules, pustules, nodules and cysts) and non-inflammatory comedones: chest and abdomen, C. back. D. Partial nucleotide sequence from family UR-253 showing deletion of 2-nt (TG) at nucleotide 1799 in NCSTN, resulting in a stop codon (L600X). E. Comparison of translation products of the normal and mutated NCSTN allele. The truncated protein terminates at codon 600. Table S1. Details of primers for NCSTN, PSEN1, PSEN2, and PSENEN genes used in the present mutation analysis.Data S1. Materials and methods. Data S2. Supplementary References.

Loss of ARHGAP40 expression in basal cell carcinoma via CpG island hypermethylation

“…A small number of studies have been conducted on tumour suppressor methylation in BCC. Brinkhuizen et al 12 reported that locally advanced basal cell carcinoma has a distinct methylation and transcriptomic profile. Mutations of the PTCH hallmark gene are detected in 50%–60% of BCCs, and PTCH promoter methylation is at a lower level (31%) 13 .…”