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Sekiya, T.* ; Bronstein, M.D.* ; Benfini, K. ; Longuini, V.C.* ; Jallad, R.S.* ; Machado, M.C.* ; Goncalves, T.D.* ; Osaki, L.H.* ; Higashi, L.* ; Lima-Jr, J.V.* ; Kater, C.E.* ; Lee, M.* ; Molatore, S. ; Francisco, G.* ; Chammas, R.* ; Naslavsky, M.* ; Schlesinger, D.* ; Gama, P.* ; Duarte, Y.A.* ; Lebrao, M.L.* ; Zatz, M.* ; Meirelles, O.* ; Liberman, B.* ; Fragoso, M.C.* ; Toledo, S.P.* ; Pellegata, N.S. ; Toledo, R.A.*

p27 variant and corticotropinoma susceptibility: A genetic and in vitro study.

Endocr. Relat. Cancer 21, 395-404 (2014)
Verlagsversion DOI PMC
Closed
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Germline mutations in p27kip1 are associated with increased susceptibility to multiple endocrine neoplasias both in rats and humans, however the potential role of common polymorphisms of this gene in endocrine tumor susceptibility and tumorigenesis remain mostly unrecognized. To assess the risk associated with polymorphism rs2066827 (p27 V109G), we genotyped a large cohort of Brazilian patients with sporadic endocrine tumors (pituitary adenomas [n=252]; pheochromocytomas [n=125]; medullary thyroid carcinoma [n=51] and parathyroid adenomas [n=19]) and 885 population-matched healthy controls and determined the odds ratios and 95% CIs. Significant associations were found for the group of patients with pituitary adenomas (p=0.01), particularly for those with ACTH-secreting pituitary adenomas (p=0.005). In contrast, no association was found with GH-secreting pituitary tumors alone or with MEN2-related tumors. Our in vitro analyses revealed increased colony formation and cell growth rate for an atT20 corticotropin mouse cell line over-expressing the p27 V109G variant compared to cells transfected with the wild-type p27. However, the genotypic effects in genetic and in vitro approaches were divergent. In accordance with our genetic data showing specificity for ACTH-secreting pituitary tissues, the over-expression of p27 V109G in a GH3 somatotropin rat cell line presented no difference compared to the wild type. Pituitary tumors are one of the major clinical components of syndromes associated with the p27 pathogenic mutations MENX and MEN4. Our genetic and in vitro data indicate that the common polymorphism rs2066827 may play a role in corticotropinoma susceptibility and tumorigenesis through a molecular mechanism not fully understood thus far.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Endocrine tumor; p27; Corticotropinoma; Pituitary tumor
Sprache englisch
Veröffentlichungsjahr 2014
HGF-Berichtsjahr 2014
ISSN (print) / ISBN 1351-0088
e-ISSN 1479-6821
Zeitschrift Endocrine-Related Cancer
Quellenangaben Band: 21, Heft: 3, Seiten: 395-404 Artikelnummer: , Supplement: ,
Verlag BioScientifica
Verlagsort Bristol
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Pathology (PATH)
POF Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Forschungsfeld(er) Enabling and Novel Technologies
PSP-Element(e) G-500300-001
PubMed ID 24532476
DOI 10.1530/ERC-13-0486
WOS ID WOS:000344787700021
Scopus ID 84903614187
Erfassungsdatum 2014-03-18
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