|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.
|
12658451 |
2003 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SDH-deficient gastrointestinal stromal tumors (dSDH GISTs) collectively manifest similar phenotypes, including hypermethylated epigenomic signatures, tendency to occur in pediatric patients, and lack of KIT/PDGFRA mutations. dSDH GISTs often harbor deleterious mutations in SDH subunit genes (SDHA, SDHB, SDHC, and SDHD, termed SDHx), but some are SDHx wild type (WT).
|
25540324 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
In a separate condition, in which the association (or dyad) of GISTs with PGLs is inherited in an autosomal dominant manner (Carney-Stratakis syndrome, CSS), germline mutations of the SDHB, SDHC and SDHD genes (but not KIT or PDFGRA) were found; GISTs in this condition were caused by SDH deficiency.
|
19522824 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
|
19351833 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
We present an adolescent male with an SDH-deficient GIST and SDHC germline mutation who developed bilateral renal cysts and neck cysts, not previously described in children with this mutation.
|
30301441 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.
|
15342702 |
2004 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas.
|
24102379 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
LHGDN |
Familial gastrointestinal stromal tumors and germ-line mutations.
|
17804857 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC, and SDHD are found in PGLs, gain-of-function mutations of c-kit (KIT), and platelet-derived growth factor receptor A (PDGFRA) in GISTs.
|
17535989 |
2007 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
|
31308404 |
2019 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
|
23666964 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
ORPHANET |
For comparison, SDHB expression was also determined in KIT mutant and neurofibromatosis-1-associated GIST, and complex II activity was also measured in SDH-deficient paraganglioma and KIT mutant GIST; 4 of 34 patients (12%) with WT GIST without a personal or family history of paraganglioma had germline mutations in SDHB or SDHC.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
|
17667967 |
2008 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
|
19454582 |
2009 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Functional cardiac paraganglioma associated with a rare SDHC mutation.
|
24402737 |
2014 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
BEFREE |
For comparison, SDHB expression was also determined in KIT mutant and neurofibromatosis-1-associated GIST, and complex II activity was also measured in SDH-deficient paraganglioma and KIT mutant GIST; 4 of 34 patients (12%) with WT GIST without a personal or family history of paraganglioma had germline mutations in SDHB or SDHC.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
|
22517554 |
2012 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
|
24758179 |
2014 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.620 |
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 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening revealed a succinate dehydrogenase complex subunit C (SDHC) germline mutation, confirming hereditary paraganglioma/pheochromocytoma syndrome.
|
29501297 |
2018 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.
|
23666964 |
2013 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.610 |
GeneticVariation
|
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 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.610 |
GeneticVariation
|
disease |
CLINVAR |
Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.
|
27279923 |
2016 |