Knowledge of mammalian CDC73 has essentially been driven by focused efforts to map, and then characterize, a gene responsible for familial primary hyperparathyroidism. Primary hyperparathyroidism (HPT) is estimated to affect three in every 1000 people. Primary HPT refers to hypersecretion of parathyroid hormone (PTH) by chief cells in the parathyroid in a setting of disrupted calcium homeostasis. Sporadic HPT is caused by the presence of a single parathyroid adenoma in the majority of patients (80–85%) or hyperplasia that affects more than one gland in 15–20% of patients. Sporadic parathyroid carcinoma is an exceedingly rare tumor, responsible for <1% of cases of primary HPT. Parathyroid abnormalities can also present as components of the familial syndrome Hyperparathyroidism Jaw Tumor syndrome (HPT-JT). Abnormalities that are part of the HPT-JT phenotype include parathyroid carcinoma (10–15%), fibro-osseous tumors...
- Gill AJ, Clarkson A, Gimm O, Keil J, Dralle H, Howell VM, Marsh DJ. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. Am J Surg Pathol. 2006;30:1140–9.PubMedCrossRefGoogle Scholar
- Hahn MA, Howell VM, Gill AJ, Clarkson A, Weaire-Buchanan G, Robinson BG, Delbridge L, Gimm O, Schmitt WD, Teh BT, et al. CDC73/HRPT2 CpG island hypermethylation and mutation of 5′-untranslated sequence are uncommon mechanisms of silencing parafibromin in parathyroid tumors. Endocr Relat Cancer. 2010;17:273–82.PubMedCrossRefGoogle Scholar
- Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, et al. Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus. Genomics. 2001;73:211–22.PubMedCrossRefGoogle Scholar