title: Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
abstract: Pituitary adenomas are common in the general population, and understanding their molecular basis is of great interest. Combining chip-based technologies with genealogy data, we identified germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP). AIP acts in cytoplasmic retention of the latent form of the aryl hydrocarbon receptor and also has other functions. In a population-based series from Northern Finland, two AIP mutations account for 16% of all patients diagnosed with pituitary adenomas secreting growth hormone and for 40% of the subset of patients who were diagnosed when they were younger than 35 years of age. Typically, PAP patients do not display a strong family history of pituitary adenoma; thus, AIP is an example of a low-penetrance tumor susceptibility gene.
authors.affiliation: Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.
authors.forename: Outi
authors.initials: O
authors.lastname: Vierimaa
authors.forename: Marianthi
authors.initials: M
authors.lastname: Georgitsi
authors.forename: Rainer
authors.initials: R
authors.lastname: Lehtonen
authors.forename: Pia
authors.initials: P
authors.lastname: Vahteristo
authors.forename: Antti
authors.initials: A
authors.lastname: Kokko
authors.forename: Anniina
authors.initials: A
authors.lastname: Raitila
authors.forename: Karoliina
authors.initials: K
authors.lastname: Tuppurainen
authors.forename: Tapani M L
authors.initials: TM
authors.lastname: Ebeling
authors.forename: Pasi I
authors.initials: PI
authors.lastname: Salmela
authors.forename: Ralf
authors.initials: R
authors.lastname: Paschke
authors.forename: Sadi
authors.initials: S
authors.lastname: Gündogdu
authors.forename: Ernesto
authors.initials: E
authors.lastname: De Menis
authors.forename: Markus J
authors.initials: MJ
authors.lastname: Mäkinen
authors.forename: Virpi
authors.initials: V
authors.lastname: Launonen
authors.forename: Auli
authors.initials: A
authors.lastname: Karhu
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D000236:Adenoma / Q000235:genetics*; D017668:Age of Onset; D015331:Cohort Studies; D005260:Female; D005387:Finland; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D049912:Growth Hormone-Secreting Pituitary Adenoma / Q000235:genetics; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008126:Lod Score; D019656:Loss of Heterozygosity; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D019683:Penetrance; D010911:Pituitary Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015175:Prolactinoma / Q000235:genetics; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D017678:Sex Distribution
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C103265:aryl hydrocarbon receptor-interacting protein