Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations.

Clinical Endocrinology
Susana C IgrejaM Korbonits

Abstract

Germline mutations in the MEN1 gene predispose to the multiple endocrine neoplasia (MEN1) syndrome; however, approximately 10-20% of patients with MEN1 do not have a detectable MEN1 mutation. A rat strain with multiple endocrine tumours, a phenotypic overlap of both MEN1 and MEN2, has been reported to have a homozygous germline p27 (CDKN1B) mutation. Recently, two MEN1 mutation-negative MEN1 syndrome patients have been identified to harbour a germline CDKN1B mutation. The recently identified gene AIP can also cause familial isolated pituitary adenoma, but no other specific tumour is associated with this syndrome. The objective of this study was to evaluate the possible contribution of CDKN1B and AIP germline mutations in a cohort of MEN1 mutation-negative MEN1 syndrome patients. Eighteen sporadic and three familial cases of MEN1 mutation-negative MEN1 syndrome were studied (18 pituitary adenomas, 12 hyperparathyroidism, 10 neuroendocrine tumours including 2 ACTH-secreting lesions and one adrenal nodular hyperplasia). Clinical data and genomic DNA were analysed for mutations in the CDKN1B and AIP genes. There were no mutations in the coding region or exon/intron junction of the CDKN1B and AIP genes in any patient. Although we ha...Continue Reading

References

Sep 1, 1992·Archives of Internal Medicine·D B Robinson, R D Michaels
Feb 1, 1989·Tropical Animal Health and Production·H M WamwayiE N Nandokha
Jul 1, 1982·Acta Neurologica Scandinavica·P BjerreJ Lindholm
Aug 10, 1999·European Journal of Human Genetics : EJHG·A CebriánM Robledo
Aug 30, 2000·The Journal of Biological Chemistry·D R Bell, A Poland
Dec 12, 2001·The Journal of Clinical Endocrinology and Metabolism·M L BrandiS J Marx
Jun 7, 2002·The Journal of Clinical Endocrinology and Metabolism·Márta KorbonitsAshley B Grossman
Jun 18, 2003·The Journal of Biological Chemistry·Graeme B BolgerMiles D Houslay
Oct 20, 2004·Molecular Pharmacology·Gengming Huang, Cornelis J Elferink
Jan 11, 2005·Proceedings of the National Academy of Sciences of the United States of America·Thomas A MilneJay L Hess
May 3, 2005·Nature Reviews. Cancer·Stephen J Marx
Oct 1, 2005·Proceedings of the National Academy of Sciences of the United States of America·Satyajit K KarnikSeung K Kim
May 27, 2006·Science·Outi VierimaaLauri A Aaltonen
Oct 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·Natalia S PellegataMichael J Atkinson
Jan 25, 2007·The Journal of Clinical Endocrinology and Metabolism·Adrian F DalyAlbert Beckers
Feb 15, 2007·The Journal of Clinical Endocrinology and Metabolism·Atsushi OzawaStephen J Marx
Mar 3, 2007·The Journal of Biological Chemistry·Simone Kobe de OliveiraAlbert P Smolenski
Mar 8, 2007·The Journal of Clinical Endocrinology and Metabolism·Rodrigo A ToledoPatricia L M Dahia
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Marianthi GeorgitsiLauri A Aaltonen
May 24, 2007·The Journal of Clinical Endocrinology and Metabolism·Marianthi GeorgitsiLauri A Aaltonen
Jun 8, 2007·Virchows Archiv : an International Journal of Pathology·Natalia S PellegataFalko Fend
Sep 26, 2007·Human Molecular Genetics·Sosipatros A Boikos, Constantine A Stratakis
Aug 22, 2007·Neoplasia : an International Journal for Oncology Research·Daniel LindbergGunnar Westin
Sep 26, 2007·European Journal of Endocrinology·Albert Beckers, Adrian F Daly
Oct 24, 2007·Clinical Endocrinology·Katalin BaloghKaroly Racz
Apr 3, 2008·The Journal of Clinical Endocrinology and Metabolism·Chrysanthia A LeontiouMárta Korbonits
May 17, 2008·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·S BuchbinderT Schilling

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Citations

Jan 15, 2009·The Journal of Clinical Endocrinology and Metabolism·Sunita K AgarwalStephen J Marx
Jan 12, 2013·Journal of Endocrinological Investigation·F MartucciM Korbonits
May 14, 2014·European Journal of Endocrinology·Francesco TonelliMaria Luisa Brandi
Oct 22, 2010·Annales d'endocrinologie·S VandevaA Beckers
Sep 14, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Marianthi Georgitsi
Sep 14, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Silvia VandevaAlbert Beckers
Dec 1, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·Adrian F DalyAlbert Beckers
Nov 8, 2008·La Presse médicale·Maria Cristina BurlacuAlbert Beckers
Nov 22, 2011·European Journal of Clinical Investigation·Dorota Dworakowska, Ashley B Grossman
Jun 27, 2015·Endocrine-related Cancer·Samuel M O'TooleMárta Korbonits
Sep 17, 2013·Molecular and Cellular Endocrinology·Yunli ZhouAnne Klibanski
Mar 23, 2011·Nature Reviews. Endocrinology·Shlomo Melmed
Aug 8, 2018·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Adriana AlbaniMarily Theodoropoulou
Jun 16, 2009·Journal of Internal Medicine·M A TichomirowaA Beckers
Jul 1, 2009·Nature Reviews. Endocrinology·Marianne S ElstonBruce G Robinson
Jul 1, 2009·Expert Review of Endocrinology & Metabolism·Cornelis Jm LipsJo Wm Höppener
May 1, 2012·Expert Review of Endocrinology & Metabolism·Cornelis Jm LipsJo Wm Höppener
Apr 2, 2020·The Journal of Clinical Endocrinology and Metabolism·Fanny ChasseloupLaura C Hernández-Ramírez
Sep 27, 2018·Frontiers in Endocrinology·Joanne M de LaatGerlof D Valk
Jul 11, 2018·Endocrine-related Cancer·Catherine GoudieWilliam D Foulkes
Jul 2, 2020·Journal of Clinical Medicine·Ismene Bilbao GarayAlbert Beckers
Mar 1, 2011·Expert Review of Endocrinology & Metabolism·Marie-Lise Jaffrain-ReaAlbert Beckers
Aug 30, 2017·Clinical Endocrinology·Adriana AlbaniMartin Reincke
Apr 4, 2021·Journal of Clinical Medicine·Anna Bogusławska, Márta Korbonits
Dec 10, 2009·Current Opinion in Oncology
Jun 1, 2017·Pediatrics·Daniel BeisangKyriakie Sarafoglou

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