The genomic landscape of cutaneous squamous carcinoma identifies drivers and a novel mutational signature associated with azathioprine exposure
Session type: Poster / e-Poster / Silent Theatre session
Cutaneous squamous cell carcinoma is increasing year on year and exhibits a high mutational burden of 50 mutations per megabase. Deciphering the drivers of disease progression remains a challenge.
We performed whole exome sequencing on 40 primary cutaneous SCCs isolated form immunocompetent and immunosuppressed patients. We employed mutational analysis programmes to identify drivers and mutational signatures.
We identified putative driver genes, pathways and processes associated with cSCC formation and progression and a novel mutational signature associated with chronic azathioprine exposure.
This study has identified azathioprine as a potential mutagen in cSCC and novel driver genes and pathways associated with disease progression.