|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed a TaqMan low-density array profiling of four parathyroid cancers harboring CDC73 inactivating mutations and negative for parafibromin immunostaining.
|
19926710 |
2010 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: a possible link to HRPT2 gene inactivation.
|
21521290 |
2011 |
|
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 |
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 |
Mutations in the hyperparathyroidism type 2 (HRPT2/CDC73) gene and alterations in the parafibromin protein have been established in the majority of parathyroid carcinomas and in subsets of parathyroid adenomas.
|
23029479 |
2012 |
|
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 |
These findings suggest that although downregulation of CASR expression, global loss of parafibromin staining and mutations in the HRPT2/CDC73 gene are tools of proven value to assist in establishing a diagnosis of parathyroid carcinoma, their absence does not exclude it.
|
21240254 |
2011 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Specific tumor suppressor genes such as HRPT2 demonstrated LOH in up to 50% of PC, while not seen in any PA.
|
19041002 |
2008 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
CDC73 mutations were detected in 9/19 (47%) PC samples.
|
30362515 |
2019 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Complete loss of APC immunoreactivity and reduced expression of parafibromin was evident in two of the atypical adenomas and in the parathyroid carcinoma.
|
20473645 |
2010 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.
|
30361844 |
2018 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
|
12434154 |
2002 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
While parafibromin immunohistochemistry represents an important step in the ability to diagnose PTCA, additional studies will be required to test the validity of this approach and to determine the roles of other genes in the development of these tumors.
|
19058032 |
2008 |
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Absence of parafibromin nuclear staining was noted in 8/12 (67 %) CA, 2/13 (15 %) AA, and 3/17 (18 %) TA tumors.
|
22987117 |
2012 |
|
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 |
CTD_human |
|
|
|
|
Parathyroid Gland Adenocarcinoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
A case of pediatric parathyroid carcinoma associated with haploinsufficiency of CDC73 is discussed.
|
26650250 |
2016 |
|
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 |
|
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 |
PosttranslationalModification
|
disease |
BEFREE |
Methylation was not identified in any specimens despite complete loss of parafibromin expression in two parathyroid carcinomas with a single detectable HRPT2 mutation and retention of the wild-type HRPT2 allele.
|
20026646 |
2010 |