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Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, responsible for up to 700,000 cases in the U.S. alone. To better understand which mutations drive cSCC development, South and colleagues performed whole exome sequencing of 20 sporadic cSCC.
They found a mutation rate of 50 per mega-base pair, which exceeds the rate found in melanoma by two- to threefold. The majority were C>T transitions, which is consistent with changes found in UV-induced DNA damage. The findings confirm that mutations in combined NOTCH1 and NOTCH2 (frequency, 82%) and TP53 (63%) dominate this landscape, with smaller contributions from CDKN2A (28%) and RAS family mutations (11%). Finally, they showed that NOTCH1 expression was reduced in sampl…