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

    Cite this

    Vierimaa, Outi ; Georgitsi, Marianthi ; Lehtonen, Rainer ; Vahteristo, Pia ; Kokko, Antti ; Raitila, Anniina ; Tuppurainen, Karoliina ; Ebeling, Tapani ; Salmela, Pasi I ; Paschke, Ralf ; Gundogdu, Sadi ; De Menis, Ernesto ; Mäkinen, Markus J ; Launonen, Virpi ; Karhu, Auli ; Aaltonen, Lauri A. / Pituitary adenoma predisposition caused by germline mutations in the AIP gene. In: Science. 2006 ; Vol. 312, No. 5777. pp. 1228-1230.
    @article{155553844367492991e74e9bae74ccef,
    title = "Pituitary adenoma predisposition caused by germline mutations in the AIP gene",
    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.{"}",
    keywords = "311 Basic medicine",
    author = "Outi Vierimaa and Marianthi Georgitsi and Rainer Lehtonen and Pia Vahteristo and Antti Kokko and Anniina Raitila and Karoliina Tuppurainen and Tapani Ebeling and Salmela, {Pasi I} and Ralf Paschke and Sadi Gundogdu and {De Menis}, Ernesto and M{\"a}kinen, {Markus J} and Virpi Launonen and Auli Karhu and Aaltonen, {Lauri A}",
    year = "2006",
    doi = "10.1126/science.1126100",
    language = "English",
    volume = "312",
    pages = "1228--1230",
    journal = "Science",
    issn = "0036-8075",
    publisher = "American Association for the Advancement of Science (AAAS)",
    number = "5777",

    }

    Vierimaa, O, Georgitsi, M, Lehtonen, R, Vahteristo, P, Kokko, A, Raitila, A, Tuppurainen, K, Ebeling, T, Salmela, PI, Paschke, R, Gundogdu, S, De Menis, E, Mäkinen, MJ, Launonen, V, Karhu, A & Aaltonen, LA 2006, 'Pituitary adenoma predisposition caused by germline mutations in the AIP gene', Science, vol. 312, no. 5777, pp. 1228-1230. https://doi.org/10.1126/science.1126100

    Pituitary adenoma predisposition caused by germline mutations in the AIP gene. / Vierimaa, Outi; Georgitsi, Marianthi; Lehtonen, Rainer; Vahteristo, Pia; Kokko, Antti; Raitila, Anniina; Tuppurainen, Karoliina; Ebeling, Tapani; Salmela, Pasi I; Paschke, Ralf; Gundogdu, Sadi; De Menis, Ernesto; Mäkinen, Markus J; Launonen, Virpi; Karhu, Auli; Aaltonen, Lauri A.

    In: Science, Vol. 312, No. 5777, 2006, p. 1228-1230.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Pituitary adenoma predisposition caused by germline mutations in the AIP gene

    AU - Vierimaa, Outi

    AU - Georgitsi, Marianthi

    AU - Lehtonen, Rainer

    AU - Vahteristo, Pia

    AU - Kokko, Antti

    AU - Raitila, Anniina

    AU - Tuppurainen, Karoliina

    AU - Ebeling, Tapani

    AU - Salmela, Pasi I

    AU - Paschke, Ralf

    AU - Gundogdu, Sadi

    AU - De Menis, Ernesto

    AU - Mäkinen, Markus J

    AU - Launonen, Virpi

    AU - Karhu, Auli

    AU - Aaltonen, Lauri A

    PY - 2006

    Y1 - 2006

    N2 - "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."

    AB - "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."

    KW - 311 Basic medicine

    U2 - 10.1126/science.1126100

    DO - 10.1126/science.1126100

    M3 - Article

    VL - 312

    SP - 1228

    EP - 1230

    JO - Science

    JF - Science

    SN - 0036-8075

    IS - 5777

    ER -