The Genomic Atlas of Dermatological Tumours (DERMATLAS)

There is a misconception that skin cancers, Europe's most common type of tumour, are treatable with surgery and are thus not a research priority. The reality is that while many patients can be adequately managed with surgical intervention, surgery is often disfiguring and can be associated with significant morbidity. Notably, many skin tumour types such as cutaneous angiosarcoma, Merkel cell carcinoma and some sarcomatoid/spindle cell carcinomas are associated with an extremely poor prognosis.

Importantly, in the clinic the classification of skin tumour types can be extremely challenging, particularly determining benign from malignant lesions with the exact diagnosis having profound implications for patient outcome and management. Unlike more common cancers, the genomes of most skin malignancies have not been studied in detail and treatment options in advanced disease are limited.

In terms of the etiology of skin cancers, another misnomer is that most skin cancers are UV-associated. While this is certainly the case for some types of melanoma, BCCs and squamous cell carcinoma, the cause of most other types is unknown. Some tumours such as Merkel cell carcinoma are associated with viruses (Merkel cell polyomavirus) while HPV has been suggested to play a role in other entities but the role of viruses or other exposures has been poorly explored.

In this project we plan to use genetic analysis to identify how and why a wide range of skin tumours develop, with the possible implications for this work being enhanced patient management, better diagnosis and an improved understanding of the basic biology of skin.