About the disease

Briefly about the diseases and their targeted therapies

Skin cancer is one of the most common types of cancer, including basal-cell cancer, squamous cell cancer (called non-melanocyter tumours), and melanoma. This last may rarely also occur in the mouth, intestines or eyes. Ultraviolet radiation from exposure to sunlight or tanning beds are the main cause of skin cancer. A subset of skin cancers is associated with various hereditary cancer syndromes. Familial atypical multiple melanoma syndrome is caused by mutations in the CDKN2A gene, which may be present in up to 40% of the heritable cases. Regardless of their hereditary predisposition, about half of all melanomas have mutations in the BRAF gene. These tumours can be treated with both BRAF and MEK inhibitors as highly effective targeted therapies. A small portion of melanomas harbour changes in the C-KIT gene, which makes them sensitive to targeted drugs such as imatinib and nilotinib.

Other known cancer susceptibility syndromes/genes that increase the risk of developing skin cancers include mutations in the PTCH1 and SUFU genes, which elevate the risk of developing basal cell carcinomas, BAP1-related tumour predisposition syndrome (BAP1), hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2), xeroderma pigmentosum (several genes), MITF-related melanoma and renal cell carcinoma predisposition syndrome (MITF), Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), and Werner syndrome (WRN).