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 pituita...

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Bibliographic Details
Published in:Science
Main Authors: Vierimaa, Outi, Georgitsi, Marianthi, Lehtonen, Rainer, Vahteristo, Pia, Kokko, Antti, Raitila, Anniina, Tuppurainen, Karoliina, Ebeling, Tapani M. L., Salmela, Pasi I., Paschke, Ralf, Gündogdu, Sadi, De Menis, Ernesto, Mäkinen, Markus J., Launonen, Virpi, Karhu, Auli, Aaltonen, Lauri A.
Format: Article in Journal/Newspaper
Language:English
Published: American Association for the Advancement of Science (AAAS) 2006
Subjects:
Northern Finland
Online Access:https://doi.org/10.1126/science.1126100
https://www.science.org/doi/pdf/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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