Pituitary adenoma predisposition caused by germline mutations in the AIP gene

Outi Vierimaa, Marianthi Georgitsi, Rainer Lehtonen, Pia Vahteristo, Antti Kokko, Anniina Raitila, Karoliina Tuppurainen, Tapani M L Ebeling, Pasi I Salmela, Ralf Paschke, Sadi Gündogdu, Ernesto De Menis, Markus J Mäkinen, Virpi Launonen, Auli Karhu, Lauri A Aaltonen
Science 2006 May 26, 312 (5777): 1228-30
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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