Genes (26)
Species:
human : 26 | |
| Human | GHRL | 51738 | ghrelin/obestatin prepropeptide | Ghrelin is expressed in the medulla of human and rat adrenal glands and also expressed in human pheochromocytomas Significantly lower ghrelin mRNA expression is associated with pheochromocytomas and aldosterone-secreting adenomas | | Human | GAL | 51083 | galanin/GMAP prepropeptide | point to GalR2 as a possible target for therapeuthic interventions in pheochromocytoma | | Human | PRLH | 51052 | prolactin releasing hormone | PrRP has a likely role in pheochromocytomas, based on its high expression in tumor tissue | | Human | KIF1B | 23095 | kinesin family member 1B | Study identified inherited loss-of-function KIF1Bbeta missense mutations in neuroblastomas and pheochromocytomas and an acquired loss-of-function mutation in a medulloblastoma | | Human | GALR2 | 8811 | galanin receptor 2 | point to GalR2 as a possible target for therapeuthic interventions in pheochromocytoma | | Human | CUL2 | 8453 | cullin 2 | Title:Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations.|Association:Not Found|Conclusion:Not Found | | Human | PRDM2 | 7799 | PR domain containing 2, with ZNF domain | recurrent inactivation of the tumour suppressor RIZ1 suggests that this event may be a significant contributing factor to tumour development in pheochromocytomas and abdominal paragangliomas | | Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | Title:Germ-line mutations in nonsyndromic pheochromocytoma|Association:Not Found|Conclusion:Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. Mutations in Von Hippel-Lindau gene product are associated with malignant transformation of pheochromocytomas Germline mutation on the VHL gene was present in patients with pheochromocytoma or functional paraganglioma analysis of Von Hippel-Lindau mutations in Korean patients with von Hippel-Lindau disease, pheochromocytomas and paragangliomas role for pVHL in the regulation of microtubule dynamics and potentially provide a link between this function of pVHL and the pathogenesis of haemangioblastoma and phaeochromocytoma in the context of VHL disease | | Human | VEGFA | 7422 | vascular endothelial growth factor A | Upregulation of vascular endothelial growth factor (VEGF) expression and its receptors may be important to the pathogenesis of pheochromocytomas in humans | | Human | TP53 | 7157 | tumor protein p53 | the p53 gene does not appear to play a major role in pheochromocytoma tumorigenesis | | Human | SLC6A2 | 6530 | solute carrier family 6 (neurotransmitter transporter), member 2 | Adrenaline-producing phaeochromocytomas in multiple endocrine neoplasia type 2 expressed more noradrenaline transporter mRNA and protein than noradrenaline-producing tumours in von Hippel-Lindau syndrome | | Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | Germline mutation on the SDHD gene was present in patients with pheochromocytoma or functional paraganglioma study showed SDHD germ-line mutations are rare in patients with pheochromocytoma identification of novel mutations in patients with phaeochromocytoma and/or paraganglioma mutation not found in Chinese patients with sporadic pheochromocytoma/paraganglioma Title:Germ-line mutations in nonsyndromic pheochromocytoma|Association:Not Found|Conclusion:Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. Two novel SDH mutations in Japanese pheochromocytomas | | Human | SDHB | 6390 | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | Title:Germ-line mutations in nonsyndromic pheochromocytoma|Association:Not Found|Conclusion:Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. SDHB has a major role in the pathogenesis of familial phaeochromocytomas, but the possible role of SDHB in sporadic tumours showing allelic loss at 1p36 has yet to be ascertained An excess of SDHB mutations in paragangliomas versus pheochromocytomas was found, with no difference in the frequency of mutations in malignant versus benign paragangliomas Participation of the iron-sulfur protein subunit of SDHB in development of susceptibility to familial pheochromocytoma is reconfirmed by a familial case with a germline mutation In patients with pheochromocytoma or functional paraganglioma with an SDHB mutation, the tumors were larger, more frequently extra-adrenal, and malignant Molecular genetic analysis with sequencing of the succinate dehydrogenase type B (SDHB) gene revealed a unknown mutation of codon 214 (CAG-->TAG) leading to an amino acid change of glutamine to a stop-Codon (Q214X-mutation) in exon 6 in pheochromocytoma | | Human | RET | 5979 | ret proto-oncogene | primary hyperparathyroidism in RET 630 mutations might be associated with lower penetrance of primary hyperparthyoidism and pheochromocytoma possibility that lower-penetrance RET mutations may contribute to the list of causes of familial pheochromocytomas A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma The penetrance of pheochromocytoma varies between multiple endocrine neoplasia 2A RET codon mutations association of high-level Ret proto-oncogene protein expression with neuronal morphology suggests that the variable overexpression of Ret in pheochromocytomas might in part be an epiphenomenon, reflecting the known phenotypic plasticity of these tumors 5'-End RET splicing: absence of variants in normal tissues and intron retention in pheochromocytomas Title:Germ-line mutations in nonsyndromic pheochromocytoma|Association:Not Found|Conclusion:Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed. Germline mutation on the RET gene was present in patients with pheochromocytoma or functional paraganglioma Title:Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset.|Association:Y|Conclusion:Not Found | | Human | NF1 | 4763 | neurofibromin 1 | NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of neurofibromatosis 1 | | Human | COX2 | 4513 | cytochrome c oxidase subunit II | COX-2 and Bcl-2 may promote phaeochromocytoma malignancy, and these oncoproteins may be valuable surrogate markers of an aggressive tumour phenotype | | Human | MEN1 | 4221 | multiple endocrine neoplasia I | mutation not found in Chinese patients with sporadic pheochromocytoma/paraganglioma | | Human | STMN1 | 3925 | stathmin 1 | stathmin is probably not useful as a stand-alone marker to determine malignancy in pheochromocytomas for individual tumors | | Human | IGF1R | 3480 | insulin-like growth factor 1 receptor | demonstrate significant overexpression of the IGF-IR in human pheochromocytomas | | Human | PRLHR | 2834 | prolactin releasing hormone receptor | PrRP receptor has a likely role in pheochromocytomas, based on its high expression in tumor tissue | | Human | EPOR | 2057 | erythropoietin receptor | Coexpression of Erythropoietin and Erythropoietin receptor was found in all five Hippel Lindau disease-associated pheochromocytomas | | Human | CHGA | 1113 | chromogranin A (parathyroid secretory protein 1) | Phaeochromocytomas from multiple endocrine neoplasia type 2 patients express substantially more CGA than tumours from von Hippel-Lindau patients at both the mRNA (3-fold greater) and protein (20-fold) level plasma CGA concentration is an effective marker of pheochromocytoma with association to malignity and tumor mass | | Human | CDKN2C | 1031 | cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) | P18 is a tumor suppressor gene involved in human medullary thyroid carcinoma and pheochromocytoma | | Human | CDKN2A | 1029 | cyclin-dependent kinase inhibitor 2A | reduced expression of pl6 is a common event in pheochromocytomas, and the primary cause for such downregulation is inactivating genetic abnormalities in the p16 gene | | Human | CDKN1B | 1027 | cyclin-dependent kinase inhibitor 1B (p27, Kip1) | pheochromocytomas display extreme reduction/loss of p27Kip1 expression at high frequency |
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