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Leelamma M Panicker, Jian-Hua Zhang, Pradeep K Dagur, Matthew J Gastinger, and William F Simonds

Introduction Germline mutation of the tumor suppressor gene HRPT2/CDC73 confers susceptibility to the hyperparathyroidism–jaw tumor syndrome (HPT–JT), an autosomal dominant syndrome whose major features are primary HPT (90%) including 15% of all

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Yulong Li and William F Simonds

, multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT) are familial syndromes of hyperparathyroidism that are associated with a spectrum of endocrine tumors and other

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Giulia Masi, Luisa Barzon, Maurizio Iacobone, Giovanni Viel, Andrea Porzionato, Veronica Macchi, Raffaele De Caro, Gennaro Favia, and Giorgio Palù

Introduction The hyperparathyroidism-jaw tumor syndrome (HPT-JT; online Mendelian inheritance in man (OMIM)#145001) is an autosomal dominant syndrome with incomplete penetrance, characterized by the occurrence of parathyroid tumors (with a

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Filomena Cetani, Claudio Marcocci, Liborio Torregrossa, and Elena Pardi

(MEN) type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4) and the hyperparathyroidism-jaw tumor syndrome (HPT-JT) are caused by known germline genetic mutations and are associated with a broad spectrum of endocrine and non-endocrine tumors ( Cardoso et al

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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

tumorigenesis with mutations reported in patients with the familial disorder hyperparathyroidism–jaw tumor (HPT–JT) syndrome (OMIM #145001; Carpten et al . 2002 , reviewed in Marsh et al . (2007) ) and in a small subset of patients classified as familial

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S Corbetta, V Vaira, V Guarnieri, A Scillitani, C Eller-Vainicher, S Ferrero, L Vicentini, I Chiodini, M Bisceglia, P Beck-Peccoz, S Bosari, and A Spada

affected with the hyperparathyroidism–jaw tumor syndrome (OMIM #145001). Germ-line or somatic inactivating mutations of the oncosuppressor gene CDC73/HRPT2 and loss of heterozygosity at locus 1q25, resulting in a significant reduction of parafibromin

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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

in familial forms of PHPT, namely multiple endocrine neoplasia types 1 and 2A (MEN 1 and MEN 2A), hyperparathyroidism–jaw tumor syndrome (HPT–JT), or familial isolated hyperparathyroidism (FIHP) ( Marx et al. 2002 ). These inherited forms of PHPT

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Kelly Brewer, Jessica Costa-Guda, and Andrew Arnold

types 1, 2a, and 4 (MEN1, MEN2A, MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), or familial isolated hyperparathyroidism (FIHP). Some of the genes responsible for heritable forms of PHPT also

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Inga-Lena Nilsson, Jan Zedenius, Li Yin, and Anders Ekbom

for the HPT jaw tumor syndrome on 1p ( Koch et al. 2001 , Chen et al. 2003 , Skogseid 2003 ). The majority of cases are of non-familial origin and in 85% the disorder stems from a single parathyroid adenoma. Since the 1960s, there have

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C C Juhlin, A Villablanca, K Sandelin, F Haglund, J Nordenström, L Forsberg, R Bränström, T Obara, A Arnold, C Larsson, and A Höög

, Stojadinovic et al. 2003 ). The hyperparathyroidism 2 ( HRPT2 ) gene is the disease gene for hyperparathyroidism–jaw tumor syndrome (HPT–JT), characterized by benign and malignant PHPT in combination with tumors of the jaws, kidney, and uterus