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Peng Hou, Dingxie Liu, and Mingzhao Xing

Introduction Papillary thyroid cancer (PTC) is the most common endocrine malignancy, accounting for 80% of all thyroid cancers ( Hundahl et al . 1998 , Altekruse et al . 2010 ). A strong oncogenic mutation that has been characterized in recent

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Nimrod B Kiss, Andreas Muth, Adam Andreasson, C Christofer Juhlin, Janos Geli, Martin Bäckdahl, Anders Höög, Bo Wängberg, Ola Nilsson, Håkan Ahlman, and Catharina Larsson

constitutional mutations in the RET , VHL , NF1 , and SDHD , SDHC , and SDHB genes respectively ( Elder et al . 2005 ). Recently, constitutional mutations of SDHAF2 ( SDH5 ) and SDHA were also identified in paraganglioma and of TMEM127 and MAX in

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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

majority of sporadic PTC, and a significant proportion of the FTA/FTC, harbours activating mutations in genes from the RAS/RAF pathway ( Kimura et al . 2003 , Vasko et al . 2003 ), no oncogenic germline mutations have been detected in the K -, N

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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

–90%) of MEN1-associated tumors ( Larsson et al. 1988 , Friedman et al. 1989 , Thakker et al. 1989 , Pannett & Thakker 2001 ), but other mechanisms such as smaller deletions and point mutations that may also inactivate the gene, can occur

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L Fugazzola, E Puxeddu, N Avenia, C Romei, V Cirello, A Cavaliere, P Faviana, D Mannavola, S Moretti, S Rossi, M Sculli, V Bottici, P Beck-Peccoz, F Pacini, A Pinchera, F Santeusanio, and R Elisei

seems to play a very central role in the pathogenesis of this tumor. B-RAF mutations have been described at high frequency in melanoma (70%) and, with a lower prevalence (10–20%), also in colon and ovarian cancer, in lung and stomach cancer and

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S Prekovic, T Van den Broeck, S Linder, M E van Royen, A B Houtsmuller, F Handle, S Joniau, W Zwart, and F Claessens

occur in the clinics and vice versa. AR mutations as mediators of enzalutamide resistance Gain-of-function mutations in the AR gene are almost exclusively found in mCRPC and not in primary disease ( Grossmann et al. 2001 ). While nucleotide

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D Engelmann, D Koczan, P Ricken, U Rimpler, J Pahnke, Z Li, and B M Pützer

transduction pathways. Gene knockout studies revealed that GDNF/RET signaling plays a crucial role in the development of the enteric nervous system and the kidney ( Drosten & Pützer 2006 , de Groot et al . 2006 ). Autosomal dominant gain of function mutations

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Tomáš Zelinka, Henri J L M Timmers, Anna Kozupa, Clara C Chen, Jorge A Carrasquillo, James C Reynolds, Alexander Ling, Graeme Eisenhofer, Ivica Lazúrová, Karen T Adams, Millie A Whatley, Jiří Widimský Jr, and Karel Pacak

'Riordain et al . 1996 , John et al . 1999 , Lehnert et al . 2004 , Zarnegar et al . 2006 ). Recently, it has been shown that the high prevalence of malignancy in subjects with PGL is linked mainly to mutations of the gene encoding the B subunit of the

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Cristina Romei, Raffaele Ciampi, Pinuccia Faviana, Laura Agate, Eleonora Molinaro, Valeria Bottici, Fulvio Basolo, Paolo Miccoli, Furio Pacini, Aldo Pinchera, and Rossella Elisei

not responsive to conventional 131-Iodine radiotherapy ( Haugen 1999 ). RET gene rearrangements, BRAF and RAS oncogene point mutations, which can activate the mitogen-activated protein (MAP) kinase signaling pathway, have been highly studied in PTC and

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Ioana N Milos, Karin Frank-Raue, Nelson Wohllk, Ana Luiza Maia, Eduardo Pusiol, Attila Patocs, Mercedes Robledo, Josefina Biarnes, Marta Barontini, Thera P Links, Jan Willem de Groot, Sarka Dvorakova, Mariola Peczkowska, Lisa A Rybicki, Maren Sullivan, Friedhelm Raue, Ioana Zosin, Charis Eng, and Hartmut P H Neumann

Introduction Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant multiglandular cancer syndrome, affecting tissues of neural crest origin. It is caused by germ line mutations of the RET proto-oncogene, encoding a transmembrane