HRPT2, a tumor suppressor gene for hyperparathyroidism-jaw tumor syndrome

被引:21
作者
Wang, PF
Tan, MH
Zhang, C
Morreau, H
Teh, BT
机构
[1] Van Andel Res Inst, Canc Genet Lab, Grand Rapids, MI 49503 USA
[2] Alexandra Hosp, Dept Med, Singapore, Singapore
[3] Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands
关键词
hyperparathyroidism-jaw tumor syndrome; HRPT2; parafibromin; parathyroid carcinoma;
D O I
10.1055/s-2005-870150
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a familial multi-tumor syndrome resulting from inactivating mutations in the HRPT2 tumor suppressor gene, which encodes a protein product named parafibromin. Here, we will review recent advances in genetic and protein studies on parafibromin, and examine its biological functions.
引用
收藏
页码:380 / 383
页数:4
相关论文
共 50 条
[41]   Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias [J].
Gill, Anthony J. ;
Clarkson, Adele ;
Gimm, Oliver ;
Keil, Juliane ;
Dralle, Henning ;
Howell, Viive M. ;
Marsh, Deborah J. .
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2006, 30 (09) :1140-1149
[42]   Frequent Large Germline HRPT2 Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism [J].
Bricaire, Leopoldine ;
Odou, Marie-Francoise ;
Cardot-Bauters, Catherine ;
Delemer, Brigitte ;
North, Marie-Odile ;
Salenave, Sylvie ;
Vezzosi, Delphine ;
Kuhn, Jean-Marc ;
Murat, Arnaud ;
Caron, Philippe ;
Sadoul, Jean-Louis ;
Silve, Caroline ;
Chanson, Philippe ;
Barlier, Anne ;
Clauser, Eric ;
Porchet, Nicole ;
Groussin, Lionel .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (02) :E403-E408
[43]   Insights into Hyperparathyroidism-Jaw Tumour Syndrome: From Endocrine Acumen to the Spectrum of CDC73 Gene and Parafibromin-Deficient Tumours [J].
Gheorghe, Ana-Maria ;
Sima, Oana-Claudia ;
Florescu, Alexandru Florin ;
Ciuche, Adrian ;
Nistor, Claudiu ;
Sandru, Florica ;
Carsote, Mara .
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (04)
[44]   Crystal structure of the N-terminal domain of human CDC73 and its implications for the hyperparathyroidism-jaw tumor (HPT-JT) syndrome [J].
Sun, Wei ;
Kuang, Xiao-Lin ;
Liu, Yan-Ping ;
Tian, Li-Fei ;
Yan, Xiao-Xue ;
Xu, Wenqing .
SCIENTIFIC REPORTS, 2017, 7
[45]   A two-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family: clinical presentations, pathological characteristics and genetic analysis: a case report [J].
Yang, Dun ;
Zheng, Jiaoyun ;
Tang, Fei ;
He, Qiongzhi ;
Huang, Hui ;
Zhou, Peng .
DIAGNOSTIC PATHOLOGY, 2022, 17 (01)
[46]   Cell Division Cycle Protein 73 Homolog (CDC73) Mutations in the Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT) and Parathyroid Tumors [J].
Newey, Paul J. ;
Bowl, Michael R. ;
Cranston, Treena ;
Thakker, Rajesh V. .
HUMAN MUTATION, 2010, 31 (03) :295-307
[47]   Analysis of aberrantly spliced HRPT2 transcripts and the resulting proteins in HPT-JT syndrome [J].
Moon, Sungdae ;
Kim, Ju-Hee ;
Shim, Ju-Yun ;
Ahn, Yu-Bae ;
Song, Ki-Ho ;
Cha, Bong-Yun ;
Maeng, Lee-So ;
Han, Je-Ho .
MOLECULAR GENETICS AND METABOLISM, 2010, 100 (04) :365-371
[48]   A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome [J].
Chiofalo, M. G. ;
Sparaneo, A. ;
Chetta, M. ;
Franco, R. ;
Baorda, F. ;
Cinque, L. ;
Granatiero, M. ;
D'Agruma, L. ;
Pezzullo, L. ;
Scillitani, A. ;
Guarnieri, V. .
CELLULAR ONCOLOGY, 2014, 37 (04) :281-288
[49]   A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome [J].
M. G. Chiofalo ;
A. Sparaneo ;
M. Chetta ;
R. Franco ;
F. Baorda ;
L. Cinque ;
M. Granatiero ;
L. D’Agruma ;
L. Pezzullo ;
A. Scillitani ;
V. Guarnieri .
Cellular Oncology, 2014, 37 :281-288
[50]   Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation [J].
Lee, Ji-Young ;
Kim, Su Yeon ;
Mo, Eun-Yeong ;
Kim, Eun-Sook ;
Han, Je-Ho ;
Maeng, Lee-So ;
Lee, An-Hee ;
Eun, Jung Woo ;
Nam, Suk Woo ;
Moon, Sung-Dae .
INTERNATIONAL JOURNAL OF ONCOLOGY, 2014, 45 (02) :641-650