Neoplastic Syndromes, Hereditary
|
0.150 |
AlteredExpression
|
group |
BEFREE |
This method enables the facile measurement of fumarate hydratase activity in cell and tissue samples, and can be used to detect disruptions in metabolism that underlie the genetic cancer syndrome hereditary leiomyomatosis and renal cell cancer (HLRCC).
|
31155064 |
2019 |
Neoplastic Syndromes, Hereditary
|
0.150 |
AlteredExpression
|
group |
BEFREE |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by inactivation of the Krebs cycle enzyme fumarate hydratase (FH).
|
29917289 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
BEFREE |
The hereditary cancer syndromes hereditary leiomyomatosis and renal cell cancer (HLRCC) and succinate dehydrogenase-related hereditary paraganglioma and pheochromocytoma (SDH PGL/PCC) are linked to germline loss-of-function mutations in genes encoding the Krebs cycle enzymes fumarate hydratase and succinate dehydrogenase, thus leading to elevated levels of fumarate and succinate, respectively<sup>1-3</sup>.
|
30013182 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
BEFREE |
Germ line mutations of the gene encoding the tricarboxylic acid (TCA) cycle enzyme fumarate hydratase (<i>FH</i>) cause a hereditary cancer syndrome known as hereditary leiomyomatosis and renal cell cancer (HLRCC).
|
28289076 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
|
28747166 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.
|
26900816 |
2016 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
|
25923021 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
An unusual case of sporadic hereditary leiomyomatosis and renal cell carcinoma syndrome.
|
25750977 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Hereditary leiomyomatosis associated with renal cell carcinoma.
|
25477250 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC).
|
25985877 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
|
26023681 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Reed syndrome presenting with leiomyosarcoma.
|
27051714 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
|
25637381 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Cloning, expression, purification, crystallization and preliminary X-ray diffraction analysis of recombinant human fumarase.
|
24419633 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
|
24441663 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a rapid autopsy report of metastatic renal cell carcinoma.
|
24625422 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas.
|
24684806 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Germline FH mutations presenting with pheochromocytoma.
|
25004247 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment.
|
25012257 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry.
|
24441663 |
2014 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Fumarase deficiency in dichorionic diamniotic twins.
|
24182348 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
|
23320739 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.
|
23612258 |
2013 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Adrenal nodular hyperplasia in hereditary leiomyomatosis and renal cell cancer.
|
22982371 |
2013 |