|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, describing the combination of paraganglioma and gastrointestinal stromal tumor (GIST).
|
29339836 |
2018 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
They may be syndromal with some being associated with the Carney Triad or germline SDHA, SDHB, SDHC, or SDHD mutations (Carney-Stratakis syndrome).
|
23060355 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
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 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST.
|
30301441 |
2019 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
Some of these patients have germline mutations of SDH subunit genes SDHB, SDHC, or SDHD, known as Carney-Stratakis syndrome when combined with paraganglioma.
|
23282968 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
Eleven out of 14 (79%) patients with PGLs of the organ of Zuckerkandl were found to have mutations in the SDHB (9) or SDHD (2) genes; one patient was found to have the Carney-Stratakis syndrome (CSS), and his PGL was discovered during surgery for gastrointestinal stromal tumor.
|
20418362 |
2010 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
|
22517554 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
|
19802898 |
2010 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
|
21348866 |
2012 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Mediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.
|
19075037 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
|
19351833 |
2009 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
|
20098451 |
2010 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of somatic VHL gene mutations in sporadic head and neck paragangliomas in association with activation of the HIF-1α/miR-210 signaling pathway.
|
23902947 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
W43X SDHD mutation in sporadic head and neck paraganglioma.
|
18561749 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
|
11897817 |
2002 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
|
26008905 |
2015 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
|
18826997 |
2008 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A role for mitochondrial enzymes in inherited neoplasia and beyond.
|
12612654 |
2003 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.
|
12509798 |
2003 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing in head and neck paraganglioma: who, what, and why?
|
24436918 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Germline SDHD mutation in familial phaeochromocytoma.
|
11323050 |
2001 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
|
16317055 |
2006 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
|
10657297 |
2000 |