Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

A Raitila, M Georgitsi, E Bonora, M Vargiolu, K Tuppurainen, M J Mäkinen, O Vierimaa, P I Salmela, Virpi Launonen, P Vahteristo, L A Aaltonen, G Romeo, A Karhu

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    Kuvaus

    Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis
    Alkuperäiskielienglanti
    LehtiJournal of Endocrinological Investigation
    Vuosikerta32
    Numero5
    Sivut426-429
    Sivumäärä4
    ISSN0391-4097
    TilaJulkaistu - 2009
    OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

    Tieteenalat

    • 311 Peruslääketieteet

    Lainaa tätä

    Raitila, A ; Georgitsi, M ; Bonora, E ; Vargiolu, M ; Tuppurainen, K ; Mäkinen, M J ; Vierimaa, O ; Salmela, P I ; Launonen, Virpi ; Vahteristo, P ; Aaltonen, L A ; Romeo, G ; Karhu, A. / Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. Julkaisussa: Journal of Endocrinological Investigation. 2009 ; Vuosikerta 32, Nro 5. Sivut 426-429.
    @article{777c93f5d9d44e24ba20e6c23b174473,
    title = "Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer",
    abstract = "Background: Over 95{\%} of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis",
    keywords = "311 Basic medicine",
    author = "A Raitila and M Georgitsi and E Bonora and M Vargiolu and K Tuppurainen and M{\"a}kinen, {M J} and O Vierimaa and Salmela, {P I} and Virpi Launonen and P Vahteristo and Aaltonen, {L A} and G Romeo and A Karhu",
    year = "2009",
    language = "English",
    volume = "32",
    pages = "426--429",
    journal = "Journal of Endocrinological Investigation",
    issn = "0391-4097",
    publisher = "EDITRICE KURTIS S.R.L",
    number = "5",

    }

    Raitila, A, Georgitsi, M, Bonora, E, Vargiolu, M, Tuppurainen, K, Mäkinen, MJ, Vierimaa, O, Salmela, PI, Launonen, V, Vahteristo, P, Aaltonen, LA, Romeo, G & Karhu, A 2009, 'Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer', Journal of Endocrinological Investigation, Vuosikerta 32, Nro 5, Sivut 426-429.

    Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. / Raitila, A; Georgitsi, M; Bonora, E; Vargiolu, M; Tuppurainen, K; Mäkinen, M J; Vierimaa, O; Salmela, P I; Launonen, Virpi; Vahteristo, P; Aaltonen, L A; Romeo, G; Karhu, A.

    julkaisussa: Journal of Endocrinological Investigation, Vuosikerta 32, Nro 5, 2009, s. 426-429.

    Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

    TY - JOUR

    T1 - Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

    AU - Raitila, A

    AU - Georgitsi, M

    AU - Bonora, E

    AU - Vargiolu, M

    AU - Tuppurainen, K

    AU - Mäkinen, M J

    AU - Vierimaa, O

    AU - Salmela, P I

    AU - Launonen, Virpi

    AU - Vahteristo, P

    AU - Aaltonen, L A

    AU - Romeo, G

    AU - Karhu, A

    PY - 2009

    Y1 - 2009

    N2 - Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis

    AB - Background: Over 95% of all thyroid malignancies are non-medullary thyroid carcinomas (NMTC). Familial NMTC are more aggressive and mortality is higher as compared with sporadic carcinomas. Known genetic factors do not explain all familial NMTC. Recently, thyroid disorders have been observed in families with germline mutations in aryl hydrocarbon receptor interacting protein (AIP) but, due to frequent occurrence of these conditions in the population, the significance of this co-occurrence is not clear. Aim, subjects and methods: To examine whether AIP is involved in familial NMTC, we performed AIP mutation screening in 93 familial NMTC cases. In addition, the AIP status was studied in one follicular thyroid adenoma patient with a known AIP mutation from an additional cohort. Results: No potentially pathogenic changes were identified, but two likely rare polymorphisms were detected. AIP mutation-positive patient's follicular thyroid adenoma showed no loss of heterozygosity or lack of immunohistochemical AIP staining. Conclusion: Our study indicates that germline Alp mutations are rare or do not exist in familial NMTC. (J. Endocrinol. Invest. 32: 426-429, 2009) (C) 2009, Editrice Kurtis

    KW - 311 Basic medicine

    M3 - Article

    VL - 32

    SP - 426

    EP - 429

    JO - Journal of Endocrinological Investigation

    JF - Journal of Endocrinological Investigation

    SN - 0391-4097

    IS - 5

    ER -