|
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 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Absence of parafibromin staining was a factor that influenced PC recurrence.
|
30865538 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The rates of loss of parafibromin expression were 0.522 (95% CI: 0.444-0.599), 0.291 (95% CI: 0.207-0.391), 0.027 (95% CI: 0.011-0.064), and 0.032 (95% CI: 0.008-0.119) in PC, atypical parathyroid adenoma (APA), parathyroid adenoma (PA), and parathyroid hyperplasia, respectively.
|
30926677 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
ROC analysis demonstrated that parafibromin had the best performance in discriminating PC from atypical/adenoma; area under the curve (AUC) was 81% (cutoff, 92.5%; sensitivity rate, 64%; specificity rate, 87%).
|
31734935 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genomic alterations identified in PC are mostly represented by CDC73 gene mutations, codifying for a loss-of-function protein termed parafibromin.
|
30641523 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
No CDC73 LOH was found in PC tissue, nor any differences in expression levels for CDC73 gene, miR-155 and miR-664 between PC and parathyroid adenoma control tissues.
|
30799315 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CDC73 mutations were detected in 9/19 (47%) PC samples.
|
30362515 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is a very unusual patient with a newly discovered variant of the CDC73 gene and a phenotype characterized by recurrent PC, brown tumors, and N1a metastasized thyroid carcinoma.
|
30905030 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The cell division cycle 73 gene is mutated in familial and sporadic forms of primary hyperparathyroidism, and the corresponding protein product parafibromin has been proposed as an adjunct immunohistochemical marker for the identification of cell division cycle 73 mutations and parathyroid carcinoma.
|
30923346 |
2019 |
|
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 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic loss-of-function mutations of CDC73 gene, encoding parafibromin, are the most frequent genetic alterations occurring in PCs.
|
28949121 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
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 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Different authors report a parafibromin and adenomatous polyposis coli (APC) loss or reduction in PC cases.
|
27490759 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<i>Parathyroid carcinoma.</i> Most parathyroid carcinomas are functional, resulting in hyperparathyroidism and a high serum calcium level; however, non-functioning parathyroid carcinomas are also rarely described in individuals with a <i>CDC73-</i>related disorder.
|
29692167 |
2018 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.
|
30361844 |
2018 |
|
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 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma.
|
28774260 |
2017 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Histopathological characteristics of PC compared to PA are increased mitotic activity (p= .001), chief cells (p = .003), diffuse growth pattern (p < .001), higher Ki67 (p< .001) and negative parafibromin (p < .001).
|
28362521 |
2017 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, there is no genotype-phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT-JT, or FIHP.
|
28881068 |
2017 |
|
Parathyroid Gland Adenocarcinoma
|
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 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic inactivating mutations of CDC73/HRPT2 gene, encoding parafibromin, are the most frequent genetic anomalies occurring in PCas.
|
28157158 |
2017 |
|
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 |