Paraganglioma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Paraganglioma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inactivating SDHB mutations were detected in two of the five kindreds with familial pheochromocytoma, two of the three kindreds with pheochromocytoma and paraganglioma susceptibility, and 1 of the 24 cases of sporadic pheochromocytoma.
|
11404820 |
2001 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, germline SDHD and SDHB mutations may cause phaeochromocytoma susceptibility with or without associated head and neck paragangliomas.
|
12351569 |
2002 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
We assessed the frequency of SDHB, SDHC, and SDHD gene mutations by PCR amplification and sequencing in a set of head and neck paraganglioma patients who were previously managed in two otolaryngology clinics in the USA.
|
11897817 |
2002 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that mutations in SDHB may be associated with metastatic, yet clinically indolent, abdominal paraganglioma in some families.
|
12213855 |
2002 |
Paraganglioma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In order to characterize phenotypic effects of these mutations, the present study investigated the immunohistochemical expression of the catalytic subunits of complex II (flavoprotein and iron protein), SDH enzyme activity, and mitochondrial morphology in a series of 22 head and neck paragangliomas.
|
14595761 |
2003 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
|
14974914 |
2003 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although the tumour appeared to be sporadic in a patient with no personal or familial history of paraganglioma and/or pheochromocytoma, we have identified a new mutation (392delC) of the succinate dehydrogenase-B (SDHB) gene in the genomic DNA extracted from the leukocytes of the patient.
|
15476441 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene.
|
14715873 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The presence of mutations within SDHB and SDHD in two of the three samples of familial PGLs and absence of mutations in sporadic cases is consistent with the significant contribution of these genes to familial but not sporadic PGL.
|
15479192 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.
|
14685938 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast with SDHD mutation carriers (PGL-1) who have more frequent multifocal paragangliomas, SDHB mutation carriers (PGL-4) are more likely to develop malignant disease and possibly extraparaganglial neoplasias, including renal cell and thyroid carcinomas.
|
15328326 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our observations suggest that germline SDHB mutations can predispose to early-onset kidney cancers in addition to paragangliomas and carry implications for medical surveillance.
|
14685938 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, three more genes (SDHD, SDHB, and SDHC) which are all related subunits of the mitochondrial complex II have been identified to cause susceptibility to pheochromocytoma and/or paraganglioma.
|
14674304 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority (>70%) of hereditary extraadrenal PCs [catecholamine-secreting paragangliomas (PGL)] are accounted for by germline intragenic mutations in SDHB, SDHC, or SDHD.
|
15531530 |
2004 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in FH predispose individuals to leiomyomas and renal cell cancer (HLRCC), whereas mutations in SDH cause paragangliomas and phaeochromocytomas (HPGL).
|
15987702 |
2005 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Location, number of tumors, malignancy, and age were different: more carotid body tumors were found in SDHC (13/22 [59%]) than in sporadic HNPs (29/90 [32%], P = .03), as well as fewer instances of multiple tumors in SDHC (2/22) than in SDHD (24/42; P<.001), 0 malignant tumors in SDHC vs 6/15 in SDHB (P = .002), and younger age at diagnosis in SDHC than in sporadic HNPs (45 vs 52 years; P = .03).
|
16249420 |
2005 |
Paraganglioma
|
0.700 |
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 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While SDHD and -- to a lesser degree -- SDHB mutations have been found in many cases of hereditary PGL, SDHC mutations are rare.
|
15883704 |
2005 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma.
|
16288654 |
2005 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.
|
17143317 |
2006 |
Paraganglioma
|
0.700 |
Biomarker
|
disease |
BEFREE |
So far, germline mutations in five genes have been identified to be responsible for familial PHEOs: the von Hippel-Lindau gene, which causes von Hippel-Lindau syndrome, the RET gene leading to multiple endocrine neoplasia type 2, the neurofibromatosis type 1 gene, which is associated with von Recklinghausen's disease and the genes encoding the B and D subunits of mitochondrial succinate dehydrogenase (SDHB, SDHD), which are associated with familial paragangliomas and PHEOs.
|
17119341 |
2006 |
Paraganglioma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
In conclusion, these data indicate that germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma and further underline the importance of germline SDHB mutations in cases of familial pheochromocytoma-paraganglioma.
|
16405730 |
2006 |