|
Pheochromocytoma
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
1.000 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes in ∼30% of cases and are linked to germline mutations in the VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 and TMEM127 genes.
|
21784903 |
2011 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phaeochromocytoma developed in 41 patients (18% of all RET proto-oncogene mutations carriers).
|
26884116 |
2016 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46.6%); exon 16 (7/17, 41.2%), exon 10 (14/47, 29.8%), and exon 13-15 (2/116, 1.7%).
|
28605116 |
2017 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RET 630 mutations might be associated with lower penetrance of primary hyperparthyoidism and pheochromocytoma.
|
17527003 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
RET 630 mutations might be associated with lower penetrance of primary hyperparthyoidism and pheochromocytoma.
|
17527003 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RET mutation data and pheochromocytoma data were compiled for 323 patients.
|
18063059 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
RET mutation data and pheochromocytoma data were compiled for 323 patients.
|
18063059 |
2007 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
RET, a transmembrane receptor tyrosine kinase and a receptor for the glial cell-derived neurotrophic factor family ligands, was one of the first oncogenes to be identified, and has been shown to be an oncogene in thyroid cancer and pheochromocytoma.
|
22751117 |
2013 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
RET germline mutations cause multiple endocrine neoplasia type 2 syndrome (MEN 2A) characterized by complete penetrance of medullary thyroid cancer (MTC), and lower prevalence of Pheo and hyperparathyroidism.
|
26497911 |
2016 |
|
Pheochromocytoma
|
1.000 |
Biomarker
|
disease |
BEFREE |
MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling.
|
28698189 |
2018 |
|
Pheochromocytoma
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
RET isoforms were expressed at different levels in MTC, PHEO, PTC, and normal thyroid tissues: RET9 expression was higher in PHEO than in MTC, PTC, and normal thyroid tissues.
|
31278686 |
2019 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A comparison of RET variant frequencies between patients with and without PHEO was performed.
|
24616415 |
2014 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A germline mutation in RET was identified in 4% of apparently sporadic MTC patients, in 100% of patients with MTC and pheochromocytoma or MTC and clinical features of multiple endocrine neoplasia type 2B, and in 100% of probands of clinically established kindreds.
|
17188172 |
2007 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634.
|
26457501 |
2015 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.
|
20039896 |
2010 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma.
|
12466368 |
2002 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A proportion of PCCs occurs in hereditary cancer syndromes, including multiple endocrine neoplasia Type 2 (MEN2), caused by mutations in the RET proto-oncogene, von Hippel-Lindau (VHL) disease, caused by VHL gene abnormalities, and the pheochromocytoma-paraganglioma (PCC-PGL) syndrome, caused by mutations in SDHB and SDHD.
|
17102083 |
2006 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities).
|
9294615 |
1997 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Absence of RET proto-oncogene mutations in a father and son with pheochromocytoma and pancreatic islet cell tumor.
|
9179691 |
1997 |
|
Pheochromocytoma
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating RET mutations are found in the inherited cancer syndrome multiple endocrine neoplasia type 2 and in a subset of the related sporadic tumors, medullary thyroid carcinoma and pheochromocytoma, both being derived from neuroendocrine tissues.
|
9559344 |
1998 |