title: [Genetic screening for mutations enables early diagnosis of pituitary adenomas].
abstract: Mutations in the aryl hydrocarbon receptor interaction protein gene (AIP) occur in familial pituitary adenomas as an autosomal dominant inheritance with a 15-30% penetrance. The AIP mutation-associated pituitary adenomas are generally large, the onset of disease is early and treatment failure frequent. Genetic screening is also offered in Denmark and enables the detection of mutation carriers, and thus early diagnosis and treatment. Mutations have been recorded among Danish patients and their families.
authors.affiliation: Medicinsk Endokrinologisk Afdeling, Aarhus Universitetshospital, Nørrebrogade 44, 8000 Aarhus C. jakob.dal@dadlnet.dk.
authors.forename: Jakob
authors.initials: J
authors.lastname: Dal
authors.forename: Mette
authors.initials: M
authors.lastname: Gaustadnes
authors.forename: Kurt
authors.initials: K
authors.lastname: Kristensen
authors.forename: Claus H
authors.initials: CH
authors.lastname: Gravholt
authors.forename: Jens Otto L
authors.initials: JO
authors.lastname: Jørgensen
mesh_terms: D000172:Acromegaly / Q000235:genetics / Q000473:pathology; D000236:Adenoma / Q000235:genetics* / Q000473:pathology; D055088:Early Detection of Cancer; D005820:Genetic Testing; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C103265:aryl hydrocarbon receptor-interacting protein