|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the fumarate hydratase (fumarase, FH) gene were recently identified as the cause for dominantly inherited uterine and cutaneous leiomyomas and renal cell cancer.
|
12183404 |
2002 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have recently shown that germline mutations in the fumarate hydratase (FH) gene located on 1q43 cause smooth muscle tumours and renal cell carcinoma.
|
12664059 |
2003 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Fumarate hydratase, a component of the tricarboxylic acid cycle, acts as a tumor suppressor gene in the development of cutaneous and uterine leiomyoma and renal cell cancer in this syndrome.
|
14632190 |
2003 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in FH are associated with leiomyomatosis and renal cell carcinoma, whilst SDH mutations are associated with predisposition to paraganglioma (PGL) and phaeochromocytoma (PCC).
|
14708972 |
2003 |
|
Renal Cell Carcinoma
|
0.200 |
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 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The present study confirms with calculated risk ratios the association of early onset RCC and ULMS with FH germline mutations in Finns.
|
16155190 |
2006 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.
|
16237213 |
2005 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the von Hippel-Lindau (VHL) or fumarate hydratase (FH) genes lead to morphologically different renal cell carcinomas with distinct clinical courses and outcomes.
|
17699843 |
2007 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In some families renal cell cancer also forms a component of the complex and as such has been described as hereditary leiomyomatosis and renal cell cancer (HLRCC: OMIM 605839).
|
18366737 |
2008 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
|
18503824 |
2008 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated whether germline mutations in fumarate hydratase (FH) or succinate dehydrogenase subunit genes (SDHB, SDHC, SDHD) were associated with RCC susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome.
|
18728283 |
2008 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, investigation of the Mendelian single-gene syndromes, like von Hippel Lindau (VHL: VHL gene), hereditary papillary renal carcinoma (HPRC: c-Met gene), Birt-Hogg-Dubé (BHD: BHD gene), and hereditary leiomyomatosis renal cell cancer (HLRCC: fumarate hydratase gene) provides an opportunity to develop pathway specific therapies.
|
19285230 |
2009 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Such aggregation of RCC in only some families and populations has led to the hypothesis that besides FH mutations also other inherited genetic and/or environmental factors may contribute to the malignant kidney tumor formation.
|
20091131 |
2010 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Succinate dehydrogenase and fumarate hydratase are mitochondrial proteins of the TCA cycle and the respiratory chain and when mutated lead to tumours of the nervous system known as paragangliomas and pheochromocytomas, and in the case of fumarate hydratase, cutaneous and uterine leiomyomas and renal cell cancer.
|
20304625 |
2010 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the MET and fumarate hydratase (FH) genes lead to the development of type 1 and type 2 papillary RCCs, respectively, and such mutations of either the TSC1 or TSC2 gene increase the risk of RCC.
|
21228928 |
2010 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.
|
21398687 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasion.
|
21695080 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Generalized cellular hypoxia (in sickle cell disease) or pseudohypoxia (in tumors with fumarate hydratase and von Hippel-Lindau mutations or epigenetic silencing) may act alone or in concert at the level of medullary tubular epithelium to promote development of this rare type of renal carcinoma, which could then be genetically reclassified as either fumarate hydratase-associated renal carcinomas or high-grade clear cell renal cell carcinomas.
|
21733559 |
2011 |
|
Renal Cell Carcinoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
The tricarboxylic acid cycle enzyme fumarate hydratase (FH) has been identified as a tumor suppressor in a subset of human renal cell carcinomas.
|
23747014 |
2013 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
However, the clinical phenotype of germline mutations in SDHx genes and FH is usually distinct, with FH mutations classically associated with hereditary cutaneous and uterine leiomyomatosis and renal cell carcinoma, although recently an association with PCC/PGL has been reported.
|
25004247 |
2014 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous gene mutations in fumarate hydratase can result in a syndrome characterized by hereditary (cutaneous and uterine) leiomyomatosis and renal cell cancer.
|
25923021 |
2015 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most patients with the disease are known to carry heterozygous germ line mutations in the fumarate hydratase (FH) gene and can be complicated by tumors in internal organs, especially uterine leiomyoma and renal cell cancer in high frequency.
|
26173633 |
2016 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A CpG island methylator phenotype (CIMP) was observed in a distinct subgroup of type 2 papillary renal-cell carcinomas that was characterized by poor survival and mutation of the gene encoding fumarate hydratase (FH).
|
26536169 |
2016 |
|
Renal Cell Carcinoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma.
|
26574848 |
2016 |