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

syndrome; FAP, familial adenomatous polyposis; LFS, Li-Fraumeni syndrome; HLRCC, hereditary leiomyomatosis and renal cell carcinoma; HPPS, hereditary pheochromocytoma and paraganglioma syndrome; HPT-JT, hyperparathyroidism-jaw-tumour syndrome; MEN1

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Aguirre A de Cubas, L Javier Leandro-García, Francesca Schiavi, Veronika Mancikova, Iñaki Comino-Méndez, Lucía Inglada-Pérez, Manuel Perez-Martinez, Nuria Ibarz, Pilar Ximénez-Embún, Elena López-Jiménez, Agnieszka Maliszewska, Rocío Letón, Álvaro Gómez Graña, Carmen Bernal, Cristina Álvarez-Escolá, Cristina Rodríguez-Antona, Giuseppe Opocher, Javier Muñoz, Diego Megias, Alberto Cascón, and Mercedes Robledo

cause hereditary and sporadic pheochromocytoma and paraganglioma . Clinical Cancer Research 18 2828 – 2837 . ( doi:10.1158/1078-0432.CCR-12-0160 ). Cascon A Pita G Burnichon N Landa I Lopez-Jimenez E Montero-Conde C Leskela S Leandro

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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

neurodegenerative disease ( Bourgeron et al . 1995 , Parfait et al . 2000 ). In contrast, germline heterozygous mutations in the genes encoding the SDH subunits result in hereditary pheochromocytoma–paraganglioma syndrome ( Baysal et al . 2000 , Neumann et al

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Trisha Dwight, Aidan Flynn, Kaushalya Amarasinghe, Diana E Benn, Richard Lupat, Jason Li, Daniel L Cameron, Annette Hogg, Shiva Balachander, Ida L M Candiloro, Stephen Q Wong, Bruce G Robinson, Anthony T Papenfuss, Anthony J Gill, Alexander Dobrovic, Rodney J Hicks, Roderick J Clifton-Bligh, and Richard W Tothill

Introduction Pheochromocytomas (PC) and paragangliomas (PGLs) are neuroendocrine tumors derived from neural crest cells of the sympathetic and parasympathetic nervous system – PCs arising in the adrenal medulla and PGLs in paraganglia outside

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Andreas Machens, Florian Hoffmann, Carsten Sekulla, and Henning Dralle

alternative source of calcitonin secretion, other than medullary thyroid cancer, is C-cell hyperplasia, which also arises from the parafollicular C-cells of the thyroid gland. It comes in a reactive (sporadic) and a neoplastic (hereditary) variety. Unlike its

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Eva Szarek, Evan R Ball, Alessio Imperiale, Maria Tsokos, Fabio R Faucz, Alessio Giubellino, François-Marie Moussallieh, Izzie-Jacques Namer, Mones S Abu-Asab, Karel Pacak, David Taïeb, J Aidan Carney, and Constantine A Stratakis

encoded by the SDHA , SDHB, SDHC, and SDHD genes, which are collectively known as SDHx . Mutations in these genes that were known to predispose individuals to hereditary PGLs and pheochromocytomas ( Astuti et al . 2001 , Velasco et al . 2005

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Michael A Hahn, Viive M Howell, Anthony J Gill, Adele Clarkson, Graham Weaire-Buchanan, Bruce G Robinson, Leigh Delbridge, Oliver Gimm, Wolfgang D Schmitt, Bin T Teh, and Deborah J Marsh

hypermethylated in malignant pheochromocytoma ( Carling et al . 2003 ). Hypermethylation of the multidrug resistance 1 ( MDR1 ) gene associated with silencing of the encoded ABC-transported protein has also been reported in benign parathyroid tumors

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Theodora S Ross

family's experience with cancer is not clearly hereditary,’ said the voice on the other end who asked her to update her medical history. Tori answered a list of questions indicating that she was a 35-year-old Californian with an uninteresting medical

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Sandra Rodríguez-Rodero, Elías Delgado-Álvarez, Agustín F Fernández, Juan L Fernández-Morera, Edelmiro Menéndez-Torre, and Mario F Fraga

, adrenocortical, and lung neuroendocrine tumors and pheochromocytoma, and paraganglioma). Hereditary endocrine tumors The MEN syndromes MEN syndromes predispose people to develop endocrine tumors. The major glands affected by the MEN syndromes are the pituitary

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Cristina Rodríguez-Antona, Iván Muñoz-Repeto, Lucia Inglada-Pérez, Aguirre A de Cubas, Veronika Mancikova, Marta Cañamero, Agnieszka Maliszewska, Álvaro Gómez, Rocío Letón, Luis J Leandro-García, Iñaki Comino-Méndez, Lara Sanchez, Cristina Álvarez-Escolá, Javier Aller, Alberto Cascón, and Mercedes Robledo

analysis caused by low tumor DNA quality. Among the familial cases, one tumor derived from a patient with a family history of multiple neoplasia type 2 (second-degree relative diagnosed with a pheochromocytoma and mother with a MTC) was classified as