title: Genetics of hereditary head and neck paragangliomas.
abstract: BACKGROUND
  The purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs).
  
  
  METHODS
  Our methods were the review and discussion of the pertinent literature.
  
  
  RESULTS
  About one third of all patients with HNPGs are carriers of germline mutations. Hereditary HNPGs have been described in association with mutations of 10 different genes. Mutations of the genes succinate dehydrogenase subunit D (SDHD), succinate dehydrogenase complex assembly factor 2 gene (SDHAF2), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit B (SDHB) are the cause of paraganglioma syndromes (PGLs) 1, 2, 3, and 4. Succinate dehydrogenase subunit A (SDHA), von Hippel-Lindau (VHL), and transmembrane protein 127 (TMEM127) gene mutations also harbor the risk for HNPG development. HNPGs in patients with rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and MYC-associated factor X (MAX) gene mutations have been described very infrequently.
  
  
  CONCLUSIONS
  All patients with HNPGs should be offered a molecular genetic screening. This screening may usually be restricted to mutations of the genes SDHD, SDHB, and SDHC. Certain clinical parameters can help to set up the order in which those genes should be tested.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Albert-Ludwigs University, Freiburg, Germany.
authors.forename: Carsten C
authors.initials: CC
authors.lastname: Boedeker
authors.forename: Erik F
authors.initials: EF
authors.lastname: Hensen
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: Francien H
authors.initials: FH
authors.lastname: van Nederveen
authors.forename: Carlos
authors.initials: C
authors.lastname: Suárez
authors.forename: Henricus P
authors.initials: HP
authors.lastname: Kunst
authors.forename: Juan P
authors.initials: JP
authors.lastname: Rodrigo
authors.forename: Robert P
authors.initials: RP
authors.lastname: Takes
authors.forename: Phillip K
authors.initials: PK
authors.lastname: Pellitteri
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rinaldo
authors.forename: Alfio
authors.initials: A
authors.lastname: Ferlito
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000235:genetics; D003937:Diagnosis, Differential; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics; D009456:Neurofibromatosis 1 / Q000235:genetics; D010235:Paraganglioma / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C499330:MAX protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C543341:SDHAF2 protein, human; C108096:SDHC protein, human; C491545:SDHD protein, human; C548370:TMEM127 protein, human; C108095:SDHB protein, human; D013385:Succinate Dehydrogenase
keywords: head and neck paraganglioma; hereditary cancer; paraganglioma syndrome; pheochromocytoma; rare diseases