Genetic aspects of Gorlin–Goltz syndrome

Abstract

Gorlin–Goltz syndrome, or nevoid basal cell carcinoma syndrome, is a rare disease that requires multidisciplinary approach in patient management. The disease is genetically heterogenous and has an extremely variable expressivity. Although the syndrome is in the focus of scientific research, our knowledge of it is still limited due to the relatively low number of recognised patients and the complexity of genotype-phenotype correlation. Several papers in this field have been published in the international and also in the Hungarian literature but most of these reports are single cases or small case series of families and outline general information about the disease. Authors aimed to review the literature of the syndrome and to report the genetic background and its role in the diagnosis and treatment. A review of the English and Hungarian literature was performed. The full genetic background of the syndrome is not yet discovered. Increasing the awareness of the syndrome, collecting and thoroughly analysing the medical records and performing genetic tests on the patients may lead to the better understanding of the disease; they may also help early diagnosis and treatment, positive family planning and may establish personalized medicine.