|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations.
|
31493194 |
2020 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with MEST may be at risk for HPT-JT and CDC73 germline mutation testing of MEST patients should be considered.
|
30452964 |
2019 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The molecular signature of these neoplasms is still unknown and the germline CDC73 mutations appears to be the most common anomaly in this setting suggesting that these cases might represents variants of the hyperparathyroidism-jaw tumor syndrome.
|
31085770 |
2019 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update.
|
28740527 |
2019 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Therefore loss of parafibromin expression by immunohistochemistry may triage genetic testing for hyperparathyroidism jaw tumor syndrome and be associated with malignant behavior in atypical parathyroid tumors.
|
29324469 |
2019 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of CDC73 gene, the same gene involved in the hyperparathyroidism-jaw tumor syndrome, can be identified in up to 70% of patients with PC and in one-third of cases the mutations are germline.
|
30551989 |
2018 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome.
|
28288139 |
2017 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
|
28774260 |
2017 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic germline CDC73 variants were identified in 11 of the 89 referred pHPT patients (12.4%), with (suspected) hyperparathyroidism-jaw tumor (HPT-JT) syndrome (n = 3), familial isolated pHPT (n = 5), apparently sporadic parathyroid carcinoma (n = 2), and apparently sporadic parathyroid adenoma (n = 1).
|
29040582 |
2017 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, CDC73 germline mutations occur in 20%-40% of patients with sporadic PC and may reveal unrecognized HPT-JT.
|
28881068 |
2017 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most pathogenic CDC73 missense mutations associated with the HPT-JT syndrome are located in the region encoding CDC73-NTD.
|
29142233 |
2017 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a protein encoded by hyperparathyroidism 2 (HRPT2) and its downregulated expression is involved in the pathogenesis of parathyroid, breast, gastric, colorectal, lung, head and neck cancers.
|
26409451 |
2016 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It also highlights the fact that HPT-JT should be considered and CDC73 mutation analysis should be performed in cases of early-onset PHPT associated with ossifying fibromas of the jaw.
|
26995009 |
2016 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The present case highlights that HPT-JT should be considered and CDC73 mutation analysis should be performed, especially in cases of early-onset PHPT, recurrent PHPT, PHPT with polyglandular parathyroid involvement, and PHPT presenting with severe hypercalcemia even if there is no positive family history.
|
25959515 |
2015 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73.
|
25444225 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma.
|
24823466 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a novel mutation in the CDC73 gene that may underlie HPT-JT syndrome.
|
25113791 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Whether FIHP is a variant or an early stage of MEN1 syndrome or hyperparathyroidism-jaw tumor syndrome is yet to be established.
|
24121387 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our gene expression profiling experiments suggest that upregulated FGFR1 expression appears to be associated with parathyroid carcinoma in HPT-JT syndrome due to an HRPT2 splicing mutation.
|
24889687 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To present the case of a hyperparathyroidism-jaw tumor (HPT-JT) patient with a novel nonsense mutation of the CDC73 gene.
|
23757631 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
However, proponents have found immunohistochemistry for parafibromin useful to definitively confirm a pathological diagnosis of parathyroid carcinoma, predict a worse outcome in definite parathyroid carcinomas, triage formal genetic testing for HPT-JT syndrome, and predict the outcome of histologically atypical parathyroid adenomas.
|
24402736 |
2014 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a protein encoded by the HRPT2 (hyperparathyroidism 2) oncosuppressor gene and its down-regulated expression is involved in pathogenesis of parathyroid, breast, gastric and colorectal carcinomas.
|
23991985 |
2013 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the HRPT2 gene (CDC73) coding for parafibromin are identified in approximately 50%-75% of HPT-JT cases and in approximately 14% of familial isolated hyperparathyroidism.
|
23293331 |
2013 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Inactivating mutations of the tumour suppressor CDC73/HRPT2 gene have been found in HPT-JT patients and also as genetic determinants of sporadic parathyroid carcinoma/atypical adenomas and, rarely, typical adenomas, in familial PHPT.
|
24340015 |
2013 |
|
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, while inactivation of the CDC73 (HRPT2) tumor suppressor gene, encoding parafibromin, is a major contributor, other genes essential to parathyroid carcinogenesis remain unknown.
|
23435613 |
2013 |