Keywords: Basal-cell carcinoma, vismodegib, basal-cell naevus syndrome

“The hedgehog pathway in basal cell carcinoma; Target for diagnostics and therapy”

Basal-cell carcinoma is the most common form of skin cancer and usually easiest to treat. The hedgehog-signaling pathway plays an important role in the development of basal cell carcinoma. This dissertation is about systemic treatment of the very rare, advanced or metastatic basal cell carcinoma with the hedgehog inhibitor vismodegib. In addition, this thesis delves into research on basal-cell naevus syndrome, a congenital disorder, in which large amounts of basal-cell carcinomas arise at a young age. This syndrome is usually caused by a mutation in the PTCH1 gene, which plays a role in the hedgehog-signaling pathway. The thesis shows that this mutation can also be present in only a select part of the body's cells, so-called genetic mosaicism.