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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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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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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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Nancy D Perrier, Andrew Arnold, Jessica Costa-Guda, Naifa L Busaidy, Ha Nguyen, Hubert H Chuang, and Maria Luisa Brandi

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome . Nature Genetics 32 676 – 680 . ( https://doi.org/10.1038/ng1048 ) Cetani F Pardi E Marcocci C 2019 Parathyroid carcinoma . Frontiers of Hormone

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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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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

Villablanca A Forsberg L Presciuttini S Bailey-Wilson J Simonds WF Gillanders EM Kennedy AM Chen JD 2002 HRPT2 , encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome . Nature Genetics

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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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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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F Cetani, E Pardi, C Banti, P Collecchi, P Viacava, S Borsari, G Fanelli, A G Naccarato, F Saponaro, P Berti, P Miccoli, A Pinchera, and C Marcocci

carcinomas, especially those involved in the control of the cell cycle ( Arnold et al . 2002 ). The hyperparathyroidism–jaw tumor syndrome, in which a high prevalence of parathyroid cancer is present, has provided the best evidence for a defined gene in

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C Juhlin, C Larsson, T Yakoleva, I Leibiger, B Leibiger, A Alimov, G Weber, A Höög, and A Villablanca

& Larsson C 2006 Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology 101 212 –218. Bradford