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 Ebeling, Pasi I Salmela, Ralf Paschke, Sadi Gundogdu, Ernesto De Menis, Markus J Mäkinen, Virpi Launonen, Auli Karhu, Lauri A Aaltonen

    Research output: Contribution to journalArticleScientificpeer-review

    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."
    Original languageEnglish
    JournalScience
    Volume312
    Issue number5777
    Pages (from-to)1228-1230
    Number of pages3
    ISSN0036-8075
    DOIs
    Publication statusPublished - 2006
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

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