|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
None of these 372 patients with renal cancer carried the FH c.1431_1433dupAAA variant.
|
31444830 |
2020 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We applied our approach to analyze hereditary leiomyomatosis and renal cell carcinoma (HLRCC), a type of kidney cancer that harbors fumarate hydratase (FH)-inactivating mutations and has elevated ROS levels.
|
31451050 |
2019 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC).
|
28747166 |
2017 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene.
|
29267457 |
2017 |
|
Renal carcinoma
|
0.400 |
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 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Loss of fumarate hydratase is associated with suppression of miR-200 and the EMT signature in renal cancer and is associated with poor clinical outcome.
|
27580029 |
2016 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fumarate hydratase gene mutations should be considered in women presenting with leiomyomas and a family history of renal cancer.
|
25923021 |
2015 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FH, resulting in loss of enzyme activity, predispose affected individuals to a rare cancer, hereditary leiomyomatosis and renal cell cancer (HLRCC), characterised by benign smooth muscle cutaneous and uterine tumours (leiomyomata) and an aggressive form of collecting duct and type 2 papillary renal cancer.
|
23812428 |
2014 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The lifetime renal cancer risk for FH mutation carriers is estimated to be 15 %.
|
25012257 |
2014 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with germline fumarate hydratase (FH) mutation are predisposed to develop aggressive kidney cancer with few treatment options and poor therapeutic outcomes.
|
25490448 |
2014 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal dominant disorder in which germline mutations of fumarate hydratase (FH) gene confer an increased risk of cutaneous and uterine leiomyomas and renal cancer.
|
24441663 |
2014 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Several therapeutic approaches for targeting the metabolic basis of FH-deficient kidney cancer are under development or are being evaluated in clinical trials, including the use of agents such as metformin, which would reverse the inactivation of AMPK, approaches to inhibit glucose transport, lactate dehydrogenase A (LDHA), the antioxidant response pathway, the heme oxygenase pathway, and approaches to target the tumor vasculature and glucose transport with agents such as bevacizumab and erlotinib.
|
23633457 |
2013 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Fumarate hydratase (FH)-deficient kidney cancer undergoes metabolic remodeling, with changes in mitochondrial respiration, glucose, and glutamine metabolism.
|
23967283 |
2013 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
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 carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Two FH mutation carriers had papillary type 2 renal cancer and Wilms' tumour, respectively.
|
20618355 |
2011 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The glycolytic shift in fumarate-hydratase-deficient kidney cancer lowers AMPK levels, increases anabolic propensities and lowers cellular iron levels.
|
21907923 |
2011 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
As part of the French National Cancer Institute (INCa) 'Inherited predispositions to kidney cancer' network, sequence analysis and a functional study of FH were preformed in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic).
|
21398687 |
2011 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Therefore, as all FH mutation carriers may have an increased risk for developing renal cancer, counseling and genetic testing should be offered for all HLRCC family members and clinical follow-up should be organized for the mutation carriers.
|
20091131 |
2010 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although the familial occurrence of these rare tumors might be coincidental, it cannot be ruled out that, beside FH, mutations in another as yet unknown gene could give rise to both leiomyosarcoma and kidney cancer.
|
18986479 |
2008 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
HIF and fumarate hydratase in renal cancer.
|
17211469 |
2007 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Conventional renal cancer in a patient with fumarate hydratase mutation.
|
17270241 |
2007 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recent investigations into other hereditary forms of kidney cancer with mutations in genes involving energy metabolism and oxidative changes, such as fumarate hydratase, suggest that metabolic changes related to hypoxia detection may be a common mechanism of tumorigenesis.
|
16364563 |
2006 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A proportion of individuals with FH mutations have associated renal cancer, a variant known as hereditary leiomyomatosis and renal cell cancer (HLRCC).
|
16029320 |
2005 |
|
Renal carcinoma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Missense FH mutations predisposing to renal cancer had no unusual features, and identical mutations were found in families without renal cancer, suggesting a role for genetic or environmental factors in renal cancer development in MCUL.
|
16237213 |
2005 |
|
Renal carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.
|
16098467 |
2005 |