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Lee, M. ; Pellegata, N.S.

Multiple endocrine neoplasia syndromes associated with mutation of p27.

J. Endocrinol. Invest. 36, 781-787 (2013)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Multiple endocrine neoplasias (MEN) are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Until recently two MEN syndromes were known, i.e. the MEN type 1 (MEN1) and type 2 (MEN2), which are caused by germline mutations in the MEN1 and RET genes, respectively. These two syndromes are characterized by a different tumor spectrum. A few years ago we described a variant of the MEN syndromes, which spontaneously developed in a rat colony and was named MENX. Affected animals consistently develop multiple endocrine tumors, with a spectrum that shares features with both MEN1 and MEN2 human syndromes. Genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative mutation for MENX. Capitalizing on these findings, germline mutations in the human homologue, CDKN1B, were searched for and identified in patients with multiple endocrine tumors. As a consequence of this discovery, a novel human MEN syndrome, named MEN4, was recognized, which is caused by heterozygous mutations in p27. These studies identified Cdkn1b/CDKN1B as a novel tumor susceptibility gene for multiple endocrine tumors in both rats and humans. Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how it is affected by MENX- or MEN4-associated mutations.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Cdkn1b ; Menx ; Men4 ; Multiple Endocrine Neoplasias ; P27; Cdk Inhibitor P27; Functional-characterization; Colorectal Carcinomas; V109g Polymorphism; Increased Risk; Breast-cancer; Messenger-rna; Gene Mutation; P27(kip1); Type-1
Sprache englisch
Veröffentlichungsjahr 2013
HGF-Berichtsjahr 2013
ISSN (print) / ISBN 0391-4097
e-ISSN 1720-8386
Zeitschrift Journal of Endocrinological Investigation
Quellenangaben Band: 36, Heft: 9, Seiten: 781-787 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort New York
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 23800691
DOI 10.3275/9021
WOS ID WOS:000335148900020
Scopus ID 84891703709
Erfassungsdatum 2013-10-28
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