|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To further investigate the role of SDHD and SDHB in the development of these tumours we determined the occurrence of germline SDHD and SDHB mutations in four patients with a family history of phaeochromocytoma with associated head and neck paraganglioma, one patient with a family history of phaeochromocytoma only and two patients with apparently sporadic extra-adrenal phaeochromocytoma, one of whom had early onset disease.
|
12618761 |
2003 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.
|
19289533 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We also investigated 202 paragangliomas or pheochromocytomas for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC and SDHD loci by BAC array comparative genomic hybridization.
|
20484225 |
2010 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although 14 different genes have been linked to paraganglioma/pheochromocytoma, a subgroup of these genes is associated with hereditary paraganglioma-pheochromocytoma, the genes related to mitochondrial succinate dehydrogenase (SDH) including SDHA, SDHB, SDHC, SDHD and the assembly factor SDHAF2.
|
26067997 |
2015 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SDHB, SDHC, and SDHD molecular screening is important in all HNPs, with or without primary indicators of paraganglioma syndrome, to orient mutation-driven clinical screening for additional HNPs and pheochromocytoma.
|
17102086 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline SDHB and SDHD mutations also lead to increased expression of HIF target genes, but it appears that phaeochromocytoma susceptibility in VHL disease cannot be attributed to HIF activation alone.
|
16728571 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Only SDHD and SDHB have so far been implicated in the pathogenesis of pheochromocytoma.
|
15883706 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
|
19576851 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The genes for SDHA, SDHB, SDHC, and SDHD are located in the nuclear DNA, and mutations in these genes have initially been described in paragangliomas (PGL) and pheochromocytomas (PCC), which are relatively rare tumors derived from the autonomic nervous system and the adrenal medulla, respectively.
|
30421319 |
2019 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the SDHB (1p35-36) and SDHD subunits (11q23) give rise to the paraganglioma syndromes (PGL), namely PGL 4 and PGL 1, and generate paraganglioma and pheochromocytoma.
|
15883710 |
2005 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the last few years several papers have reported on the association between mutations of the genes encoding the structural (SDHC, SDHD) and catalytic (SDHB) subunits of succinate dehydrogenase and the occurrence of hereditary pheochromocytomas/paragangliomas (Pheo/PGL) syndromes.
|
19411806 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Germline mutations in four genes (RET, VHL, SDHB and SDHD) are detected in about 17% of patients with apparently sporadic pheochromocytoma.
|
22946750 |
2013 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In particular, mutations in the nuclear-encoded subunits of succinate dehydrogenase (SDHB, SDHC, and SDHD) cause paragangliomas and pheochromocytomas.
|
18519664 |
2008 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this study, both the risk of paraganglioma and phaeochromocytoma formation, and the risk of developing associated symptoms were investigated in 243 family members with the SDHD.D92Y founder mutation.
|
19584903 |
2010 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We performed a retrospective study on 170 PGL/PCC in which we investigated SDHD and SDHB expression by immunohistochemistry.
|
25405498 |
2015 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
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 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One patient with multifocal head and neck paraganglioma (PGL) and pheochromocytoma (PHEO) carried a SDHD mutation.
|
24134185 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine whether SDHB and SDHD gene mutations in patients with pheochromocytoma/paraganglioma could be determined using a salivary sample.
|
26916530 |
2016 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations.
|
19522821 |
2009 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma.
|
24599702 |
2014 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Unsupervised analysis identified two dominant clusters, separating SDHB and SDHD-AT PHEOs/PGLs (cluster A) from VHL PHEOs and SDHD-HN PGLs (cluster B).
|
23555188 |
2013 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS).
|
18362451 |
2008 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Published age-standardized penetrance rates of VHL-, SDHB-, and SDHD-associated pheochromocytoma were gauged against age-standardized penetrance rates of MEN2-associated pheochromocytoma in 219 institutional carriers of RET mutations conferring highest (codon 918), high (codons 609, 611, 618, 620, 630, and 634) and least high risk (codons 768, 790, 791, 804, and 891).
|
17102110 |
2006 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions.
|
29124493 |
2018 |