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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

Introduction The tumor suppressor HRPT2 , also known as CDC73 , maps to 1q31.2 (Ensembl release 55), and has 17 exons encoding the 531 amino acid protein parafibromin. Mutation of HRPT2 has been strongly associated with parathyroid

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

( Jackson et al . 1990 , Carpten et al . 2002 ). HPT-JT is caused by mutations in the putative tumor suppressor gene CDC73 also known as ( HRPT2 ) ( Carpten et al . 2002 ), which encodes an ubiquitously expressed protein, named parafibromin

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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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Kelly Brewer, Jessica Costa-Guda, and Andrew Arnold

evidence suggests that these genes are downstream targets of driver mutations rather than oncogenic drivers themselves. CDC73 (originally called HRPT2 ) is the causative gene for the familial hyperparathyroidism-jaw tumor syndrome (HPT-JT) and the

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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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Yulong Li, Jianhua Zhang, Poorni R Adikaram, James Welch, Bin Guan, Lee S Weinstein, Haobin Chen, and William F Simonds

-stage diagnosis and increased chance of cure. CDC73 , formerly known as HRPT2 , is a key gene implicated in development of parathyroid cancer. It is a putative tumor suppressor gene with 17 exons ( Fig. 1 ), and multiple germline and somatic mutations have been

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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

-catenin interaction domain (CID) and complex-binding domain (Cdc73) domains are physically present in the positive nuclei found. Two tumors with double somatic HRPT2 mutations exhibited positive and partial loss of parafibromin expression respectively. This

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Vincenzo Condello, Filomena Cetani, Maria Denaro, Liborio Torregrossa, Elena Pardi, Paolo Piaggi, Simona Borsari, Anello Marcello Poma, Lucia Anna Muscarella, Paolo Graziano, Maria Grazia Chiofalo, Andrea Repaci, Giovanni Tallini, Francesco Boi, Gabriele Materazzi, Fulvio Basolo, and Claudio Marcocci

and/or epigenetic mechanisms have been supposed ( Brewer et al. 2019 ). One of the few certainties is that mutations in Cell Division Cycle 73 gene ( CDC73 , formerly known as HRPT2 ) are the most common molecular alterations in PC. CDC73

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Felix Haglund, Carl Christofer Juhlin, Taylor Brown, Mehran Ghaderi, Tiantian Liu, Adam Stenman, Andrii Dinets, Manju Prasad, Reju Korah, Dawei Xu, Tobias Carling, and Catharina Larsson

C Juhlin CC 2012 Genome-wide and locus specific alterations in CDC73/HRPT2-mutated parathyroid tumors . PLoS ONE 7 e46325 . ( doi:10.1371/journal.pone.0046325 ). Velin AK Herder A Johansson KJ Trulsson LM Smeds S 2001

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

. 2016 , Romano et al. 2017 ). Allelic loss (LOH) at different chromosomal loci including 12 tumor suppressor genes ( CDKN1A , CDKN2A , TP53 , CDC73 , VHL , APC , PTEN , NM23 , KAI1 , MEN1 , RB1 , and NF2 ) was identified in 25 of 38 (66