title: [Molecular genetics of familial tumour syndromes of the central nervous system].
abstract: Although most of the central nervous system tumours are sporadic, rarely they are associated with familial tumour syndromes. These disorders usually present with an autosomal dominant inheritance and neoplasia develops at younger age than in sporadic cases. Most of these tumours are bilateral, multiplex or multifocal. The causative mutations occur in genes involved in cell cycle regulation, cell growth, differentiation and DNA repair. Studying these hereditary cancer predisposition syndromes associated with nervous system tumours can facilitate the deeper understanding of the molecular background of sporadic tumours and the development of novel therapeutic agents. This review is an update on hereditary tumour syndromes with nervous system involvement with emphasis on molecular genetic characteristics and their clinical implications.
authors.affiliation: Debreceni Egyetem, Általános Orvostudományi Kar Patológiai Intézet, Neuropatológiai Tanszék Debrecen Nagyerdei krt. 98. 4032.
authors.forename: Balázs
authors.initials: B
authors.lastname: Murnyák
authors.affiliation: Debreceni Egyetem, Általános Orvostudományi Kar Orvosi Rehabilitáció és Fizikális Medicina Tanszék Debrecen Debreceni Egyetem, Általános Orvostudományi Kar Neurológiai Tanszék Debrecen.
authors.forename: Rita
authors.initials: R
authors.lastname: Szepesi
authors.affiliation: Debreceni Egyetem, Általános Orvostudományi Kar Patológiai Intézet, Neuropatológiai Tanszék Debrecen Nagyerdei krt. 98. 4032.
authors.forename: Tibor
authors.initials: T
authors.lastname: Hortobágyi
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics; D056733:Carney Complex / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics; D055614:Genetic Phenomena; D020022:Genetic Predisposition to Disease; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D008967:Molecular Biology; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D009442:Neurilemmoma / Q000235:genetics; D017253:Neurofibromatoses / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000235:genetics; D018335:Rhabdoid Tumor / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics
keywords: cancer syndrome; central nervous system; daganatszindróma; genetics; genetika; központi idegrendszer