Profile of basal cell carcinoma mutations and copy number alterations - focus on gene-associated noncoding variants

Basal cell carcinoma (BCC) of the skin is the most common cancer in humans, driven mostly by mutations in the hedgehog pathway genes. We performed whole-exome sequencing of 27 tumor/normal pairs of samples. As a result, we identified >80,000 mutations of which a substantial fraction (~50%) occurred in noncoding regions (5UTRs, 3UTRs, and introns).