|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of genes related to Krebs cycle enzymes, kinases or to pseudohypoxic signaling pathways, including Von-Hippel-Lindau (VHL) and transmembrane-protein-127 predispose to pheochromocytoma and paraganglioma development.
|
31568062 |
2020 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas and pheochromocytomas and have been associated with germline heterozygous mutations in MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127.
|
31705439 |
2019 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Certain subunits of succinate dehydrogenase (SDHx), von Hippel-Lindau (VHL) and transmembrane protein 127 (TMEM127) still have the highest impact on development of head and neck paragangliomas.
|
31307198 |
2019 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We reviewed previously reported clinical features of TMEM127 mutation carriers and compared our findings with case descriptions of homozygous mutations in other PGL/PCC-susceptibility genes.
|
29282712 |
2018 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Of 972 unrelated registrants without mutations in the classic pheochromocytoma- and paraganglioma-associated genes (632 female [65.0%] and 340 male [35.0%]; age range, 8-80; mean [SD] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TMEM127, 8 MAX, and 1 SDHAF2.
|
28384794 |
2017 |
|
Paraganglioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
3-MT = 3-methoxytyramine; EPAS1 = endothelial pas domain protein 1; FH = fumarate hydratase; HIF2A = hypoxia inducible factor type 2A; MEN2 = multiple endocrine neoplasia type 2; NF1 = neurofibromatosis type 1; PNMT = phenylethanolamine N-methyltransferase; PPGL = pheochromocytoma and paraganglioma; RET = rearranged during transfection; SDH = succinate dehydrogenase; SDHAF2 = succinate dehydrogenase complex assembly factor 2; TCA = tricarboxylic acid; TH = tyrosine hydroxylase; TMEM127 = transmembrane protein 127; VHL = von Hippel-Lindau.
|
28332883 |
2017 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Primary Renal Paragangliomas and Renal Neoplasia Associated with Pheochromocytoma/Paraganglioma: Analysis of von Hippel-Lindau (VHL), Succinate Dehydrogenase (SDHX) and Transmembrane Protein 127 (TMEM127).
|
28646318 |
2017 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.
|
26960314 |
2016 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
About 60% of Pheochromocytoma (PCC) and Paraganglioma (PGL) patients have either germline or somatic mutations in one of the 12 proposed disease causing genes; SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, EPAS1, RET, NF1, TMEM127, MAX and H-RAS.
|
24466223 |
2014 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This chapter will present an overview of genetic and molecular features of the most recently identified hereditary forms of pheochromocytoma and paraganglioma: those caused by mutations in five genes of the succinate dehydrogenase (SDH) complex, the transmembrane-encoding gene TMEM127 and the MYC-binding partner, MAX.
|
23652672 |
2013 |
|
Paraganglioma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Transcriptome studies indeed revealed that pheochromocytomas and paragangliomas can be classified into two major clusters depending on their gene expression profile: Cluster 1 comprises samples associated with a hypoxic signature such as SDHx- and VHL-related tumors and cluster 2 includes RET, NF1, and TMEM127-mutated tumors, as well as most of sporadic tumors.
|
22183643 |
2012 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Regarding the molecular genetics, head and neck paragangliomas have been associated with nine susceptibility genes: NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2 (SDH5), and TMEM127.
|
22584701 |
2012 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to determine whether TMEM127 mutations are involved in the pathogenesis of pheochromocytomas/paragangliomas in Japanese subjects.
|
22541004 |
2012 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to clearly determine the indications for TMEM127 genetic testing in patients with PCC and/or paraganglioma (PGL).
|
22419703 |
2012 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Transcriptome and immunohistochemical analyses showed that TMEM127-related pheochromocytoma clusterized with NF1-related and RET-related tumors in a large series of pheochromocytomas and paragangliomas, exhibited a reduced TMEM127 mRNA expression and displayed a low vascularization.
|
20923864 |
2011 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
An entirely novel gene associated with adrenal pheochromocytoma, TMEM127, suggests that other new paraganglioma susceptibility genes may await discovery.
|
21082267 |
2011 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Functional characterization of transmembrane protein 127 (TMEM127) and discovery of additional pheochromocytoma/paraganglioma susceptibility genes is likely to shed light on our understanding of these tumors and extend these insights to other cancers.
|
21447639 |
2011 |
|
Paraganglioma
|
0.400 |
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 |
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We sequenced the FP/TMEM127 gene in 990 individuals with pheochromocytomas and/or paragangliomas, including 898 previously unreported cases without mutations in other susceptibility genes from 8 independent worldwide referral centers between January 2009 and June 2010.
|
21156949 |
2010 |
|
Paraganglioma
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|