Patch-y Mutational Profile

BCC has the highest mutation rate of any human cancer, making it unlikely that a single pathway is implicated in its development.

Basal cell carcinoma (BCC), the most common type of skin cancer, is associated with excessive sun exposure. Although the genetic landscapes of many cancers have been analyzed, the mutational profile of BCC remains uncharacterized. Investigators recently performed whole-exome sequencing of 12 BCCs from 10 patients to identify potential new sites of mutagenesis in BCCs.

Comparing tumor and normal DNA from the same individual, these investigators found 75.8 mutations per Mb of coding DNA — the highest rate reported in any type of human cancer. Tumors from anatomical regions with chronic UV exposure were associated with higher mutation rates than those with intermittent exposure. The majority of all mutations (75.7%) bore a UV signature. PTCH1 a…

Reviewing Author

Hensin Tsao, MD, PhD

Disclosures

Consultant / advisory board Lubax; WorldCare Clinical

EquityLubax

Grant / Research support NIH; Department of Defense; American Skin Association; Piramal

Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology

Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)