Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a protein encoded by hyperparathyroidism 2 (HRPT2) and its downregulated expression is involved in the pathogenesis of parathyroid, breast, gastric, colorectal, lung, head and neck cancers.
|
26409451 |
2016 |
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 |
Biomarker
|
disease |
CLINGEN |
Mutations predicted to inactivate parafibromin were first detected in the germline of patients with hyperparathyroidism-jaw tumor (HPT-JT) syndrome.
|
16931959 |
2006 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
HRPT2 mutations are more frequently associated with the hyperparathyroidism-jaw tumour syndrome (HPT-JT).
|
16061557 |
2005 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Though the loss of the oncosuppressor CDC73/HRPT2 gene product, parafibromin, has been involved in the hyperparathyroidism-jaw tumor syndrome and in a consistent set of sporadic PaCs, parathyroid carcinogenesis remains obscure.
|
19926710 |
2010 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73.
|
25444225 |
2014 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the tumour suppressor HRPT2 occur in patients with parathyroid carcinoma, kidney tumours and Hyperparathyroidism-Jaw Tumour syndrome.
|
19332451 |
2009 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients.
|
21360064 |
2011 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma.
|
24823466 |
2014 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.
|
2123361 |
1990 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inactivation of the HRPT2/CDC73 gene, encoding the putative tumor-suppressor protein parafibromin and discovered in the context of the hyperparathyroidism-jaw tumor (HPT-JT) syndrome, is a common, somatic event in most parathyroid cancers.
|
21167377 |
2010 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q.
|
9973288 |
1999 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations of the HRPT2 gene, which encodes parafibromin, are responsible for the development of the hyperparathyroidism-jaw tumor syndrome and have also been implicated in the development of a high proportion of sporadic PTCAs.
|
19058032 |
2008 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a protein encoded by the HRPT2 (hyperparathyroidism 2) oncosuppressor gene and its down-regulated expression is involved in pathogenesis of parathyroid, breast, gastric and colorectal carcinomas.
|
23991985 |
2013 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
|
12434154 |
2002 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin is a protein encoded by hyperparathyroidism 2, and its down-regulated expression is involved in the pathogenesis of parathyroid, breast, and gastric carcinomas.
|
21315421 |
2011 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inactivation of parafibromin predisposes one to the development of HPT-JT syndrome.
|
16989776 |
2006 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding that two of the seven patients with sporadic parathyroid cancer carried an HRPT2 germline mutation suggests that they might have occult HPT-JT.
|
15531515 |
2004 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The HPT-JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the HRPT2 gene, located on chromosome 1q31.2.
|
16487440 |
2006 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
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 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical features of HPT-JT syndrome were detected in 13 of the 15 carriers with germline CDC73 mutations.
|
21652691 |
2011 |
Hyperparathyroidism-Jaw Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression.
|
15580289 |
2005 |
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 |
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 |
BEFREE |
The similar loss of parafibromin immunoreactivity in HPT-JT syndrome-related adenomas suggests that this is a pivotal step in parathyroid tumorigenesis.
|
15475453 |
2004 |