Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
Rossella LibéJérôme Bertherat


We have reported previously nonsense inactivating mutations of the phosphodiesterase 11A (PDE11A) gene in patients with micronodular adrenocortical hyperplasia and Cushing syndrome. The aim of this study is to investigate the presence of somatic or germ-line PDE11A mutations in various types of adrenocortical tumors: ACTH-independent macronodular adrenocortical hyperplasia (AIMAH), adrenocortical adenoma (ACA), and adrenocortical cancer (ACC). PDE11A was sequenced in 117 adrenocortical tumors and 192 controls subjects; immunohistochemistry for PDE11A and tumor cyclic AMP levels were studied in a subgroup of adrenocortical tumors. One PDE11A inactivating mutation (R307X) was found in one ACA, 22 germ-line missense variants (18.8%) were found in adrenocortical tumors, and only 11 missense variants (5.7%) were found in controls. By comparing the common mutations, a higher frequency of mutations in adrenocortical tumors than in age/sex-matched controls were observed [16% versus 10% in ACC, 19% versus 10% in ACA, and 24% versus 9% in AIMAH; odds ratio (OR), 3.53; P = 0.05]. Somatic DNA from adrenocortical tumors with missense variants showed a wild-type allelic loss. A significant difference between ACC and controls was observed for...Continue Reading


Nov 29, 2013·The New England Journal of Medicine·Estelle LouisetHervé Lefebvre
Nov 29, 2013·The New England Journal of Medicine·Guillaume AssiéJérôme Bertherat
Nov 17, 2009·The Journal of Clinical Endocrinology and Metabolism·Estelle LouisetHervé Lefebvre
Oct 1, 2010·The Journal of Clinical Endocrinology and Metabolism·Fabio R FauczConstantine A Stratakis
May 24, 2011·European Journal of Endocrinology·Delphine Vezzosi, Jérôme Bertherat
Dec 17, 2009·Expert Opinion on Investigational Drugs·Rajkumar SavaiRalph Theo Schermuly
Nov 4, 2011·Current Opinion in Pharmacology·Isaac LevyConstantine A Stratakis
Dec 1, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Delphine VezzosiLionel Groussin
Sep 21, 2010·Annales d'endocrinologie·D VezzosiJérôme Bertherat
Nov 3, 2009·Annales d'endocrinologie·A CrandT Brue
Dec 11, 2008·Annales de pathologie·Frédérique Tissier
Dec 17, 2008·Annales de pathologie·Sébastien Aubert
Dec 17, 2008·Annales de pathologie·Frédérique Tissier
Mar 12, 2016·Nature Reviews. Endocrinology·Maya Lodish, Constantine A Stratakis
Apr 5, 2012·Clinical Endocrinology·Tânia L MazzucoIsabelle Bourdeau
Aug 13, 2015·European Journal of Endocrinology·Ludivine DrougatJérôme Bertherat
May 26, 2015·Lancet·André LacroixLynnette K Nieman
May 17, 2015·Endocrine-related Cancer·Rodrigo B de AlexandreFabio R Faucz
Jun 4, 2015·Endocrinology and Metabolism Clinics of North America·Stéphanie Espiard, Jérôme Bertherat
May 23, 2014·Molecular and Cellular Endocrinology·R Formosa, J Vassallo
Dec 10, 2008·Molecular and Cellular Endocrinology·Constantine A Stratakis
Apr 15, 2015·Current Opinion in Endocrinology, Diabetes, and Obesity·Mihail Zilbermint, Constantine A Stratakis
Oct 8, 2014·Nature Reviews. Endocrinology·Elisabeth M Walczak, Gary D Hammer
Sep 15, 2016·Frontiers in Endocrinology·Fady Hannah-ShmouniConstantine A Stratakis
Dec 14, 2017·Endocrine-related Cancer·Fidéline Bonnet-Serrano, Jérôme Bertherat
Mar 27, 2020·Current Opinion in Endocrinology, Diabetes, and Obesity·Michel MailletAndré Lacroix
Apr 24, 2020·Clinical Endocrinology·Jakob DalJens Otto L Jørgensen
Apr 6, 2012·Current Opinion in Endocrinology, Diabetes, and Obesity·Adi Bar-Lev, Justin P Annes
Dec 7, 2013·Endocrine Reviews·Monalisa F AzevedoConstantine A Stratakis
Oct 4, 2017·Endocrine Reviews·Maria-Christina ZennaroFabio Fernandes-Rosa
Nov 21, 2018·Hormones : International Journal of Endocrinology and Metabolism·Crystal D C Kamilaris, Constantine A Stratakis
Aug 13, 2020·Journal of the Endocrine Society·Patricia VaduvaJérôme Bertherat
Apr 20, 2018·JCI Insight·Stéphanie EspiardJérôme Bertherat


Dec 12, 1991·The New England Journal of Medicine·L S WeinsteinA M Spiegel
Oct 18, 2000·Molecular Cell Biology Research Communications : MCBRC·E N PapadakisD A Spandidos
Apr 23, 2002·Nature Genetics·Hanne Meijers-HeijboerCHEK2-Breast Cancer Consortium
Sep 6, 2002·The Journal of Clinical Endocrinology and Metabolism·Lionel GroussinJérôme Bertherat
Oct 15, 2003·Genetic Epidemiology·Antonis C Antoniou, Douglas F Easton
Dec 20, 2003·Current Opinion in Oncology·Stan SidhuLeigh Delbridge
Jan 28, 2004·Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology·Anita KoushikEduardo L Franco
Jun 12, 2004·European Journal of Endocrinology·Frédérique TissierChristine Gicquel
Nov 2, 2004·Nature Reviews. Cancer·Paul D P PharoahDouglas F Easton
Apr 22, 2005·The New England Journal of Medicine·George Adrian CalinCarlo M Croce
Sep 29, 2005·European Journal of Endocrinology·Rossella Libé, Jérôme Bertherat
Apr 8, 2006·The Journal of Investigative Dermatology·Alexander J StratigosAndreas D Katsambas
Jul 5, 2006·Journal of the National Cancer Institute·Brenda J BoersmaStefan Ambs
Aug 3, 2006·Nature Reviews. Drug Discovery·Frank S MennitiChristopher J Schmidt
Sep 30, 2006·Proceedings of the National Academy of Sciences of the United States of America·Ma-Li WongJulio Licinio
Dec 29, 2006·Annals of the New York Academy of Sciences·Felix Beuschlein, Martin Reincke
Feb 10, 2007·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Rossella LibéJérôme Bertherat
Mar 16, 2007·American Journal of Human Genetics·Gregory V KryukovShamil R Sunyaev
Mar 21, 2007·PLoS Genetics·Paul D P PharoahSEARCH Investigators
Mar 31, 2007·Endocrine-related Cancer·Rossella LibéJérôme Bertherat
Jun 1, 2007·Breast Cancer Research : BCR·Tatsuya ToyamaYoshitaka Fujii
Oct 24, 2007·Nature Clinical Practice. Endocrinology & Metabolism·Constantine A Stratakis, Sosipatros A Boikos
Dec 11, 2007·International Journal of Cancer. Journal International Du Cancer·Dominique SchererRajiv Kumar

Related Concepts

Phosphoric diester hydrolase
Conn Adenoma
Acth-Independent Macronodular Adrenal Hyperplasia
Cyclic AMP
Loss of Heterozygosity
PDE11A gene

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