Figure 4.

In-vivo STAMP of sun-exposed, at-risk human skin reveals high burden of mutations

(A) Two male immunocompromised organ transplant recipients with a history of skin cancer and clinically-evident dermatoheliosis were sampled in both sun-exposed and sun-protected areas and DNA isolated and subjected to targeted exome sequencing to a median depth of 3,000X.

(B) Oncoprint of cancer-related genes in sun-exposed vs. sun-protected samples from high-risk organ transplant recipients. The 26 most frequently altered genes in the QIAseq panel are listed in order of decreasing frequency (top to bottom / left to right). Among the most frequently mutated genes are TP53, NOTCH1, MLL2/3, as previously reported. Red boxes denote non-frameshift, non-synonymous variants and black boxes denote frameshift, stopgain, stoploss, or splicing variants.

(C) Somatic single-nucleotide variant burdens using both 1% and 2% variant allele cutoffs in sun-exposed and sun-protected samples from high-risk organ transplant recipients.