|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Forty-three parafibromin-negative tumors from 40 (5.1%) of 789 patients undergoing immunohistochemistry were identified.
|
29324469 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A germline start codon mutation (p.M1I) in CDC73 was identified in all 3 family members who presented with MEST and 2 tumors from 1 patient demonstrated somatic copy-neutral loss of heterozygosity.
|
30452964 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The influence of clinical parameters, surgical procedure, and parafibromin staining of tumor tissues on prognosis were evaluated.
|
30865538 |
2019 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
This gene encodes an ubiquitously expressed 531 amino acid protein, parafibromin, that acts as a tumor suppressor.
|
30799315 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Here, we found that CDC73, which encodes the cell division cycle 73 and acts as a tumor suppressor, was unexpectedly up-regulated in several cancer types but down-regulated in a variety of senescent cells.
|
29621547 |
2018 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The tumor showed loss of parafibromin expression; germline testing revealed no pathogenic germline variants of <i>CDC73</i>, suggesting either a cryptic germline variant or a sporadic malignancy.
|
30455668 |
2018 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The main findings suggest that DNA methylation and chromatin remodeling are active and deregulated in parathyroid tumors, cooperating with genetic alterations to drive the tumor phenotype: the tumor suppressors menin and parafibromin, involved in parathyroid tumorigenesis, interact with chromatin modifiers, defining distinct epigenetic derangements.
|
28501573 |
2018 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors.
|
29040582 |
2017 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
CDC73/parafibromin was initially recognized as a tumor suppressor by inhibiting cell proliferation via repression of cyclin D1 and c-myc genes.
|
29142233 |
2017 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The messenger RNA (mRNA) and protein expression of parafibromin were also examined in ovarian normal tissue, benign and borderline tumors and cancers by reverse transcription-polymerase chain reaction (RT-PCR), Western blot, or immunohistochemistry respectively.
|
26409451 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MEN1 is caused by abnormalities of the MEN1 gene which encodes a tumour suppressor; MEN2 and MEN3 are due to mutations of the rearranged during transfection (RET) proto-oncogene, which encodes a tyrosine kinase receptor; MEN4 is due to mutations of a cyclin-dependent kinase inhibitor (CDNK1B); and HPT-JT is due to mutations of cell division cycle 73 (CDC73), which encodes parafibromin.
|
27306766 |
2016 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This syndrome appears to arise from a variety of mutations that deactivate the tumor suppressor gene CDC73 (also known as HRPT2) and its production of the tumor suppressor protein parafibromin.
|
25511968 |
2015 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The CDC73 gene, encoding parafibromin, has been identified as a tumour suppressor gene both in hyperparathyroidism-jaw tumour (HPT-JT) syndrome and in sporadic parathyroid carcinoma.
|
25113791 |
2014 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Consistent with its tumor suppressor role, CDC73 binds to RNA polymerase II as part of a PAF1 transcriptional regulatory complex and causes transcriptional repression of oncogenes MYC and CCND1.
|
24257751 |
2014 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
In this study, we investigated the expression of parafibromin, CK7, and RCC marker (RCC-Ma) in this tumor by immunohistochemistry in a group of CCPRCC.
|
23060304 |
2013 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
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 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In HPT-JT, mutations of CDC73/HRPT2 are associated with parathyroid carcinoma, but tumors of the kidneys and uterus are additional features.
|
23652676 |
2013 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
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 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Molecular profiling of tumour cells can identify high-risk features, such as differential expression of specific micro-RNAs and proteins, and germ line mutations in CDC73, but is unsuitable for preoperative assessment owing to the potential risks associated with biopsy.
|
22751344 |
2012 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
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 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Furthermore, CDC73-mutated carcinomas displayed losses at 1p and 13 which are not seen in CDC73-mutated adenomas, making these regions of interest for further studies regarding malignant properties in tumors from CDC73-mutated cases.
|
23029479 |
2012 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutation of the tumor suppressor gene CDC73 confers susceptibility to the hyperparathyroidism-jaw tumor syndrome associated with a high risk of parathyroid malignancy.
|
22297294 |
2012 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A novel hemizygous HRPT2 somatic mutation (c.32delA) was identified in the tumour.
|
21790700 |
2012 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Based on the identification of tumor suppressor gene HRPT2/CDC73 and its association with hereditary and sporadic PC, screening of gene mutations and detection of parafibromin immunoreactivity have been suggested as diagnostic instruments of PC in Whites.
|
23029104 |
2012 |