title: Recent developments in brain tumor predisposing syndromes.
abstract: The etiologies of brain tumors are in the most cases unknown, but improvements in genetics and DNA screening have helped to identify a wide range of brain tumor predisposition disorders. In this review we are discussing some of the most common predisposition disorders, namely: neurofibromatosis type 1 and 2, schwannomatosis, rhabdoid tumor predisposition disorder, nevoid basal cell carcinoma syndrome (Gorlin), tuberous sclerosis complex, von Hippel-Lindau, Li-Fraumeni and Turcot syndromes. Recent findings from the GLIOGENE collaboration and the newly identified glioma causing gene POT1, will also be discussed. Genetics. We will describe these disorders from a genetic and clinical standpoint, focusing on the difference in clinical symptoms depending on the underlying gene or germline mutation. Central nervous system (CNS) tumors. Most of these disorders predispose the carriers to a wide range of symptoms. Herein, we will focus particularly on tumors affecting the CNS and discuss improvements of targeted therapy for the particular disorders.
authors.affiliation: a Department of Radiation Sciences , Oncology, Umeå University , Umeå , Sweden.
authors.forename: Gunnar
authors.initials: G
authors.lastname: Johansson
authors.affiliation: a Department of Radiation Sciences , Oncology, Umeå University , Umeå , Sweden.
authors.forename: Ulrika
authors.initials: U
authors.lastname: Andersson
authors.affiliation: a Department of Radiation Sciences , Oncology, Umeå University , Umeå , Sweden.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Melin
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics; D001932:Brain Neoplasms / Q000209:etiology* / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005910:Glioma / Q000235:genetics; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D016518:Neurofibromatosis 2 / Q000235:genetics; D018335:Rhabdoid Tumor / Q000235:genetics; D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics
chemical_list: C509917:LZTR1 protein, human; C440849:POT1 protein, human; D000089804:Shelterin Complex; D034501:Telomere-Binding Proteins; D014157:Transcription Factors