Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
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.
Vierimaa
Outi
O
Department of Clinical Genetics, Oulu University Hospital, 90029 Oulu, Finland.
Georgitsi
Marianthi
M
Lehtonen
Rainer
R
Vahteristo
Pia
P
Kokko
Antti
A
Raitila
Anniina
A
Tuppurainen
Karoliina
K
Ebeling
Tapani M L
TM
Salmela
Pasi I
PI
Paschke
Ralf
R
Gündogdu
Sadi
S
De Menis
Ernesto
E
Mäkinen
Markus J
MJ
Launonen
Virpi
V
Karhu
Auli
A
Aaltonen
Lauri A
LA
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
D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C103265:aryl hydrocarbon receptor-interacting protein