[Genetic aspects of Gorlin‒Goltz syndrome].

Osszefoglalo. A Gorlin-Goltz-szindroma - mas neven naevoid basalsejtes carcinoma szindroma - egy ritka, viszont szamos orvosi tarsszakmat erinto, rendkivul valtozatos megjelenesu es genetikailag is heterogen betegseg. Bar a tudomanyos kutatasok egyik kedvenc terulete, az aranylag alacsony betegszam, valamint a genotipus es a fenotipus kozotti, igen komplex osszefuggesek miatt a korkeprol meglevo ismereteink meg nem teljesek. A temaban megjelent nemzetkozi es magyar nyelvu publikaciok jelentos resze esetkozlesekre es a szindroma altalanos ismertetesere szoritkozik. A kozlemeny celja, hogy attekintest adjon a szindroma genetikai vonatkozasairol. A nemzetkozi es a magyar nyelvu szakirodalom attanulmanyozasat vegeztuk. A naevoid basalsejtes carcinoma szindroma genetikai hatterenek, az egyelore azonositatlan orokletes tenyezoknek pontos megismerese meg varat magara. A genetikai vizsgalatok a szindroma pontosabb megertesehez, konnyebb diagnosztizalasahoz, a pozitiv csaladtervezeshez es a szemelyre szabott terapiakhoz is hozzajarulhatnak. Orv Hetil. 2020; 161(49): 2072-2077. Summary. 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. Orv Hetil. 2020; 161(49): 2072-2077.