Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
|
12434154 |
2002 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
The results in this study support the role of HRPT2 as a tumour suppressor gene in sporadic parathyroid carcinoma, and provide further evidence for HRPT2 as the causative gene in HPT-JT, and a subset of FIHP.
|
12960210 |
2003 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.
|
14715834 |
2004 |
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 |
We demonstrated, by both gene and protein expression, that Histone 1 Family 2, amyloid beta precursor protein, and E-cadherin are useful markers for parathyroid carcinoma and suggest that the presence of a HRPT2 mutation, whether germ-line or somatic, strongly influences the expression pattern of these 3 genes.
|
15492263 |
2004 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we provide additional evidence for a strong association between HRPT2 gene mutations and sporadic parathyroid cancer.
|
15531515 |
2004 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Transient overexpression of wild-type parafibromin, but not its Leu64Pro missense mutant implicated in parathyroid cancer and familial isolated hyperparathyroidism, inhibited cell proliferation, and blocked expression of cyclin D1, a key cell cycle regulator previously implicated in parathyroid neoplasia.
|
15580289 |
2005 |
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 |
SomaticCausalMutation
|
disease |
ORPHANET |
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 |
Mutations of the HRPT2 gene (1q21-q32), which are responsible for the HPT-JT syndrome, have been implicated in the development of a high proportion of parathyroid carcinomas.
|
15731573 |
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 |
GeneticVariation
|
disease |
BEFREE |
In support of these findings, specific HRPT2 mutations identified in HPT-JT or sporadic parathyroid carcinoma predicted to truncate parafibromin upstream of or within this NLS disrupt nuclear localization.
|
16116486 |
2005 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Mutations of the tumor suppressor gene, HRPT2, and resultant loss of expression of its gene product have been found in the majority of parathyroid cancers studied.
|
16357559 |
2006 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the HRPT2 gene have recently been implicated in the development of parathyroid carcinoma.
|
16720667 |
2006 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function.
|
17314275 |
2007 |
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 |
Recently, it has been shown that mutations in the HRPT2 gene (encoding parafibromin) are associated with the development of parathyroid carcinoma.
|
17555500 |
2007 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
There is increasing evidence that loss of HRPT2 gene expression is strongly associated with parathyroid carcinomas.
|
18217513 |
2007 |
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In secondary HPT due to chronic kidney disease (CKD), parathyroid carcinoma is very rare and whether HRPT2 plays a role in the carcinogenesis in these cases is not clear.
|
18338208 |
2008 |