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Isadora Pontes Cavalcante, Anna Vaczlavik, Ludivine Drougat, Claudimara Ferini Pacicco Lotfi, Karine Perlemoine, Christopher Ribes, Marthe Rizk-Rabin, Eric Clauser, Maria Candida Barisson Villares Fragoso, Jérôme Bertherat and Bruno Ragazzon

Introduction Germline mutations of Armadillo repeat containing 5 gene ( ARMC5 ) were identified in patients diagnosed with multiple bilateral adrenocortical tumors (PBMAH or primary bilateral macronodular adrenal hyperplasia) ( Assie et al

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Fady Hannah-Shmouni, Annabel Berthon, Fabio R Faucz, Juan Medina Briceno, Andrea Gutierrez Maria, Andrew Demidowich, Mirko Peitzsch, Jimmy Masjkur, Fidéline Bonnet-Serrano, Anna Vaczlavik, Jérôme Bertherat, Martin Reincke, Graeme Eisenhofer and Constantine A Stratakis

development of PBMAH, which is consistent with the Knudson two-hit model of tumorigenesis. Individuals with pathogenic variants in ARMC5 manifest with more severe hypercortisolism and larger adrenal glands when compared to predicted benign variants ( Faucz

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Fidéline Bonnet-Serrano and Jérôme Bertherat

one gene affected in more than one tumor sample, ARMC5 , mapping to 16p11.2. Direct sequencing of tumor DNA further identified ARMC5 mutations in a total of 18/33 patients. All tumor DNA samples of these 18 patients harbored 2 genetic alterations in

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Dimitra A Vassiliadi and Stylianos Tsagarakis

the majority of PBMAH cases have a sporadic presentation, it has recently been shown that a fair number of patients carry germline mutations of the ARMC5 gene ( Assie et al. 2013 ). Interestingly, tumorigenesis follows the ‘two-hit’ model since

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Ravi Kumar Dutta, Peter Söderkvist and Oliver Gimm

different genes are linked to these diseases. Next-generation sequencing of APA samples has uncovered mutations in several novel genes: KCNJ5 , ATP1A1 , ATP2B3 , CTNNB1 , CACNA1D , CACNA1H and ARMC5 ( Choi et al . 2011 , Mulatero et al . 2012

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Catherine Goudie, Fady Hannah-Shmouni, Mahmure Kavak, Constantine A Stratakis and William D Foulkes

other factors ( Bourdeau et al . 2001 , Lacroix et al . 2010 ). Pathogenic variants in the tumour suppressor ARMC5 were identified >50% of apparent sporadic and familial PBMAH cases, where both alleles carried one germline and one somatic mutation

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Carole Guerin, David Taieb, Giorgio Treglia, Thierry Brue, André Lacroix, Frederic Sebag and Frederic Castinetti

unilateral adrenal lesion (adenoma or carcinoma) or bilateral hyperplasias: primary bilateral macronodular adrenal hyperplasia (BMAH), a condition in which adrenal production of ACTH and ARMC5 mutations have been recently evidenced ( Assie et al . 2013

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Anne-Lise Lecoq, Say Viengchareun, Mirella Hage, Jérôme Bouligand, Jacques Young, Audrey Boutron, Philippe Zizzari, Marc Lombès, Philippe Chanson and Peter Kamenický

results seem paradoxical considering the role of AIP mutations in somatotroph tumorigenesis. Nevertheless, similarly to what has been recently reported for ARMC5 mutations ( Assié et al. 2013 ), we can hypothesize that the inactivation of AIP might

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Isobel C Mouat, Kei Omata, Andrew S McDaniel, Namita G Hattangady, Debnita Talapatra, Andi K Cani, Daniel H Hovelson, Scott A Tomlins, William E Rainey, Gary D Hammer, Thomas J Giordano and Tobias Else

-dependent, catalytic, ( PRAKACA ) and armadillo repeat-containing 5 ( ARMC5 )), α-1H subunit of T-type voltage-dependent Ca(2+) channels ( CACNA1H ) and oncogene hot spots in guanine nucleotide-binding protein subunit ( GNAS ) and β-catenin ( CTNNB1 ). Template

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Stephen J Marx

Investigation 25 696 – 701 . ( doi:10.1007/BF03345103 ). Assie G Libé R Espiard S Rizk-Rabin M Guimier A Luscap W Barreau O Lefèvre L Sibony M Guignat L 2013 ARMC5 mutations in macronodular adrenal hyperplasia with Cushing