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The HPT-JT syndrome - multiple Parathyroid Adenomas, Parathyroid Carcinomas in 15% of patients, as well as Fibro-osseous Jaw tumours (in 35% of patients) results from mutations of the CDC73 (HRPT2) gene (encoding parafibromin).
CDC73 mutations are major driver mutations in the etiology of parathyroid carcinomas (PCs).
Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A (show RET Proteins) and MEN2B (show RET Proteins) are due to pathogenic RET (show RET Proteins) variants (10q11.21), MEN4 (show CDKN1B Proteins) is due to pathogenic CDKN1B (show CDKN1B Proteins) variants (12p13.1), and the HPT-JT syndrome is due to pathogenic CDC73 variants (1q25).
Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.
Pathogenic germline CDC73 variants were identified in primary hyperparathyroidism patients, with (suspected) hyperparathyroidism-jaw tumor syndrome familial isolated primary hyperparathyroidism and apparently sporadic parathyroid carcinoma
Data suggest that down-regulated parafibromin (HRPT2; CDC73) expression might be closely linked to colorectal carcinogenesis and cancer differentiation.
A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified.
Germline mutation of HRPT2 is associated with parathyroid carcinoma.
parafibromin downregulation might promote the pathogenesis, dedifferentiation and metastasis of ovarian cancers possibly by suppressing aggressive phenotypes, such as proliferation, cell cycle, apoptosis, migration and invasion.
We suggest that parafibromin may be a possible prognostic and predictive parameter for breast carcinomas
Uterine neoplasms, myometria and jaw bones of Cdc73(+/-) mice had increased proliferation rates that were 2-fold higher than in Cdc73(+/+) mice.
These results aid in our understanding of the role parafibromin plays within transcriptional regulation, terminal differentiation, and bone homeostasis
Data indicate that isruption of the MLL (show MLL Proteins)-PAFc subunit, Cdc73 (Hrpt2) interaction selectively inhibits the proliferation of MLL (show MLL Proteins) leukemic cells.
Oncogenic microRNA-155 down-regulates tumor suppressor CDC73 and promotes oral squamous cell carcinoma cell proliferation
Expression of Hrpt2 and parafibromin is pivotal in mammalian development and survival in adults and that these functions are likely mediated by the transcriptional regulation of growth factors.
This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma.
Paf1/RNA polymerase II complex component
, cell division cycle 73, Paf1/RNA polymerase II complex component, homolog
, cell division cycle protein 73 homolog
, hyperparathyroidism 2 protein
, Vcell division cycle 73, Paf1/RNA polymerase II complex component, homolog
, hyperparathyroidism 2 homolog
, hyperparathyroidism 2 protein homolog
, hyperparathyroidism 2 (with jaw tumor)
, hyperparathyroidism 2 with jaw tumor protein
, cell division cycle 73 S homeolog