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Rodrigo A Toledo, Yuejuan Qin, Subramanya Srikantan, Nicole Paes Morales, Qun Li, Yilun Deng, Sang-Woo Kim, Maria Adelaide A Pereira, Sergio P A Toledo, Xiaoping Su, Ricardo C T Aguiar, and Patricia L M Dahia

Introduction Pheochromocytomas and paragangliomas are sympathetic neural-derived neoplasms. Over one third of these tumors carry germline mutations in one of the ten distinct genes ( Jafri & Maher 2012 ). Remarkably, somatic events in

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A Raitila, M Georgitsi, A Karhu, K Tuppurainen, M J Mäkinen, K Birkenkamp-Demtröder, K Salmenkivi, T F Ørntoft, J Arola, V Launonen, P Vahteristo, and L A Aaltonen

pituitary adenomas, but instead mutations have been detected in some of the other contributing lesions ( Leotlela et al. 2003 , Kaltsas et al. 2004 , Boikos & Stratakis 2006 ). We have recently examined the occurrence of somatic AIP mutations

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Adrian F Daly, Bo Yuan, Frederic Fina, Jean-Hubert Caberg, Giampaolo Trivellin, Liliya Rostomyan, Wouter W de Herder, Luciana A Naves, Daniel Metzger, Thomas Cuny, Wolfgang Rabl, Nalini Shah, Marie-Lise Jaffrain-Rea, Maria Chiara Zatelli, Fabio R Faucz, Emilie Castermans, Isabelle Nanni-Metellus, Maya Lodish, Ammar Muhammad, Leonor Palmeira, Iulia Potorac, Giovanna Mantovani, Sebastian J Neggers, Marc Klein, Anne Barlier, Pengfei Liu, L’Houcine Ouafik, Vincent Bours, James R Lupski, Constantine A Stratakis, and Albert Beckers

Introduction Somatic mosaicism describes a phenomenon in which two or more populations of cells compose one multicellular organism, within which each cell population is represented by its own unique genome ( Lupski 2013 ). Somatic mosaic

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Ying Ni, Spencer Seballos, Shireen Ganapathi, Danielle Gurin, Benjamin Fletcher, Joanne Ngeow, Rebecca Nagy, Richard T Kloos, Matthew D Ringel, Thomas LaFramboise, and Charis Eng

observations together, we sought to address the hypothesis that alterations in SDHx at both germline and somatic levels may also occur in apparently sporadic breast cancer and differentiated thyroid cancer (DTC). Research participants, materials and methods

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Tobias Åkerström, Holger Sven Willenberg, Kenko Cupisti, Julian Ip, Samuel Backman, Ana Moser, Rajani Maharjan, Bruce Robinson, K Alexander Iwen, Henning Dralle, Cristina D Volpe, Martin Bäckdahl, Johan Botling, Peter Stålberg, Gunnar Westin, Martin K Walz, Hendrik Lehnert, Stan Sidhu, Jan Zedenius, Peyman Björklund, and Per Hellman

higher in Asian countries ( Taguchi et al . 2012 , Kitamoto et al . 2015 , Wang et al . 2015 , Zheng et al . 2015 ). More recently, somatic mutations in genes encoding an additional ion channel ( CACNA1D ) and two ATPases ( ATP1A1 and ATP2B3

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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

particular, somatic mutations in KCNJ5 , ATP1A1 , ATP2B3 and CACNA1D and a germline mutation in CACNA1H have been described ( Choi et al . 2011 , Beuschlein et al . 2013 , Scholl et al . 2013 , 2015 ). Recently, the somatic mutational

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F Cetani, E Pardi, E Ambrogini, P Viacava, S Borsari, M Lemmi, L Cianferotti, P Miccoli, A Pinchera, A Arnold, and C Marcocci

somatic alterations (mutations or LOH at the same locus) in the different parathyroid tumors. Materials and methods Case report The proband, a 39-year-old man, referred to our Department in February 1998 for

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Branca M Cavaco, Pedro F Batista, Carmo Martins, Ana Banito, Francisco do Rosário, Edward Limbert, Luís G Sobrinho, and Valeriano Leite

). These findings suggest that tumour suppressor susceptibility genes lie in these chromosomal regions and that genetically inherited, or somatically acquired, disruptions of these genes may predispose to FNMTC initiation and/or progression. Although the

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Yael Laitman, Anat Jaffe, Hagit Schayek, and Eitan Friedman

may be attributed to non-paternity, non-penetrant mutant allele, gonadal mosaicism or parental germline/somatic mosaicism ( Koper & Lamberts 2000 ). The assignment of a de novo MEN1 gene mutation in previous studies was based on lack of a parental

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Ravi Kumar Dutta, Jenny Welander, Michael Brauckhoff, Martin Walz, Piero Alesina, Thomas Arnesen, Peter Söderkvist, and Oliver Gimm

sporadic APAs from Norway, Sweden, and Germany (protocols and primers available on request). We found frequent somatic mutations in KCNJ5 , ATP1A1 , and ATP2B3 . No mutations were identified in KCNJ3 which is in agreement with previous reports ( Choi