question: Which pathological conditions are caused by mutations in the CYLD gene?
answer: Since loss of CYLD expression can be observed in different types of human cancer, it is now well established that CYLD acts as a tumor suppressor gene. Pathogenic mutations in CYLD can be identified in patients affected with Brooke-Spiegler syndrome, (Familial) Cylindromatosis or multiple familial trichoepithelioma. CYLD expression has also been reported to be  dramatically downregulated in basal cell carcinoma (BCC), the most common cancer in humans.