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 |
BEFREE |
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
|
31308404 |
2019 |
Gastrointestinal Stromal Tumors
|
0.800 |
PosttranslationalModification
|
group |
BEFREE |
Thirty per cent are associated with SDHA germline mutation and 50% are associated with SDHC epimutation (post-zygotic promoter hypermethylation) - the hallmark of the syndromic but non-hereditary Carney triad (SDH- deficient GIST, SDH-deficient paraganglioma and pulmonary chondroma).
|
29239034 |
2018 |
Gastrointestinal Stromal Tumors
|
0.800 |
AlteredExpression
|
group |
BEFREE |
An alternate mechanism leading to GIST oncogenesis is deficiency in the succinate dehydrogenase (SDH) enzyme complex resulting from genetic or epigenetic inactivation of one of the four SDH subunit genes (SDHA, SDHB, SDHC, SDHD, collectively referred to as SDHX).
|
28768491 |
2017 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.
|
27700540 |
2016 |
Gastrointestinal Stromal Tumors
|
0.800 |
PosttranslationalModification
|
group |
BEFREE |
Epigenetic inactivation of the SDHC gene is a more recently discovered phenomenon, which so far has only been described in GISTs and PPGLs from patients with Carney triad syndrome.
|
26652933 |
2016 |
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 |
AlteredExpression
|
group |
BEFREE |
Gene expression analysis showed remarkable down-modulation of SDHC mRNA with respect to all other GIST samples, both SDHA-mutant and KIT/PDGFRA-mutant GIST.
|
26415883 |
2015 |
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Tissues from 16 CTr tumors (n=12), those with isolated GIST (n=1), and those with CSS caused by SDHC (n=1) and SDHD (n=2) mutations were studied by electron microscopy (EM).
|
25808178 |
2015 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
|
24758179 |
2014 |
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 |
CausalMutation
|
group |
CLINVAR |
Pheochromocytoma and paraganglioma syndromes: genetics and management update.
|
24523625 |
2014 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
|
24423348 |
2014 |
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 |
CLINVAR |
Functional cardiac paraganglioma associated with a rare SDHC mutation.
|
24402737 |
2014 |
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
|
24758179 |
2014 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies.
|
24781345 |
2014 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
|
23282968 |
2013 |
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 |
Biomarker
|
group |
BEFREE |
However, germline mutations of the genes encoding SDH subunits A, B, C or D (SDHA, SDHB, SDHC or SDHD; collectively SDHx) are also identified in GISTs.
|
23174939 |
2013 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
|
23083876 |
2012 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.
|
22351710 |
2012 |
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Long-delayed localization of a cardiac functional paraganglioma with SDHC mutation.
|
22868853 |
2012 |
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 |
CausalMutation
|
group |
CLINVAR |
Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas.
|
22517554 |
2012 |