|
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 |
Biomarker
|
disease |
BEFREE |
Ten out of eleven parathyroid cancers were negative for parafibromin staining and showed HRPT2 gene abnormalities.
|
17468190 |
2007 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline DNA analysis for HRPT2/CDC73 mutation is recommended in all patients with parathyroid cancer because of the potential benefit for first-degree relatives, who should nevertheless undergo serum calcium screening.
|
21167377 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Previous studies, mostly based on familial cases of the disease, suggested potential roles for the tumour suppressor MEN1 and proto-oncogene RET in benign parathyroid tumourigenesis, while the tumour suppressor HRPT2 and proto-oncogene CCND1 may also act as drivers in parathyroid cancer.
|
23616356 |
2013 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There is little information about HRPT2/CDC73 mutations and its corresponding protein expression in patients with sporadic PC in Chinese population, and the long-term follow-up data is scarce.
|
23029104 |
2012 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss of parafibromin immunostaining has been shown in most PC.
|
27001435 |
2016 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
|
20052758 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Inactivating somatic HRPT2 mutations are common in parathyroid carcinoma, often causing decreased expression of the protein parafibromin involved in cyclin D1 regulation.
|
19373510 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Inactivating HRPT2 mutations are common in HPT- JT and parathyroid carcinomas, and have been described in a few cases of parathyroid adenomas with cystic features.
|
16728578 |
2006 |
|
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 |
In addition, APC immunohistochemistry could become a useful tool for improved recognition of parathyroid carcinoma together with immunohistochemistry for parafibromin and proliferation index.
|
19148484 |
2009 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with FIHP, due to adenomas, atypical adenomas, and parathyroid carcinomas.
|
24823466 |
2014 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HRPT2, the gene responsible for hereditary hyperparathyroidism with jaw-tumor syndrome, were strongly associated with sporadic parathyroid carcinoma.
|
19350316 |
2009 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The etiology of parathyroid carcinoma is unknown, however, the recently discovered HRPT2 gene, a tumor suppressor gene encoding for the protein parafibromin, has been implicated in the pathogenesis.
|
15719375 |
2005 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No intragenic HRPT2 mutations were detected, strengthening the degree of specificity of HRPT2 mutation as a feature of sporadic parathyroid carcinoma as opposed to sporadic adenomas.
|
15956079 |
2005 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Parafibromin, the protein product of the HRPT2 gene responsible for hyperparathyroidism-jaw tumor syndrome, has been implicated in the development of sporadic parathyroid carcinomas and loss of immunohistochemical expression of this protein has been suggested to be of value in making the diagnosis of parathyroid carcinoma.
|
18684024 |
2008 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There is a high prevalence of HRPT2 gene mutations and biallelic inactivation in parathyroid carcinoma.
|
15475453 |
2004 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unacceptable recurrence/persistence rate (80%) associated with increasingly difficult re-operations and risk of parathyroid carcinoma in the setting of germline mutations of HRPT2 gene with familial hyperparathyroidism suggest that a more aggressive operative approach should be undertaken in these patients.
|
18436011 |
2008 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating CDC73 mutations have also been implicated in sporadic parathyroid cancer, but are rare in sporadic benign parathyroid tumors.
|
22297294 |
2012 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the hyperparathyroidism-jaw tumour syndrome, which is associated with renal and uterine tumours.
|
19522828 |
2009 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
Certain patients with apparently sporadic parathyroid carcinoma carry germ-line mutations in HRPT2 and may have the HPT-JT syndrome or a phenotypic variant.
|
14585940 |
2003 |
|
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 |