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...

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Bibliographic Details
Published in:Science
Main Authors: Makinen, Markus J., Aaltonen, Lauri A., De Menis, Ernesto, Launonen, Virpi, Karhu, Auli, Vierimaa, Outi, Georgitsi, Marianthi, Lehtonen, Rainer, Vahteristo, Pia, Kokko, Antti, Raitila, Anniina, Tuppurainen, Karoliina, Ebeling, Tapani M. L., Salmela, Pasi I., Paschke, Ralf, Gundogdu, Sadi
Other Authors: ,, 178651
Format: Article in Journal/Newspaper
Language:English
Published: 2006
Subjects:
Temel Bilimler (SCI)
ÇOK DİSİPLİNLİ BİLİMLER
Doğa Bilimleri Genel
Temel Bilimler
Northern Finland
Online Access:https://hdl.handle.net/20.500.12627/28340
https://doi.org/10.1126/science.1126100
Description
Summary: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.

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