|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study emphasizes the importance of considering FH mutation screening when gynecologists encounter families with multiple severe uterine leiomyoma cases.
|
22473397 |
2012 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
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 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Although hereditary leiomyomatosis and renal cell carcinoma syndrome is defined by fumarate hydratase (FH) germline mutations, resulting in S-(2-succino)-cysteine (2SC) formation, it is unknown whether leiomyomas with bizarre nuclei show similar alterations.
|
28664937 |
2017 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
BEFREE |
Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
|
26457356 |
2015 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We present a case series of 2 sisters in their 20s who presented with isolated uterine leiomyomas and were found to carry a novel mutation for the fumarate hydratase gene.
|
28700432 |
2018 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Somatic MED12 mutations and biallelic FH inactivation are mutually exclusive in both HLRCC syndrome-associated and sporadic uterine leiomyomas.
|
27187686 |
2016 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Immunohistochemistry (IHC) for 2-succinocysteine (2SC) and FH has also been shown to correlate well with FH gene mutation status in RCC and uterine leiomyomas.
|
26945337 |
2016 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
BEFREE |
However, the distribution and topography of FH-d morphology and FH loss by IHC in the context of multiple leiomyomas in patients with HLRCC has not been evaluated.
|
31162287 |
2019 |
|
Uterine Fibroids
|
0.200 |
AlteredExpression
|
group |
BEFREE |
We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes.
|
22764886 |
2013 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We corroborated previously reported FH mutations in nine out of the 18 HLRCC-associated UL cases and identified two missense mutations in FH in only two nonsyndromic UL cases and one control.
|
26113603 |
2015 |
|
Uterine Fibroids
|
0.200 |
PosttranslationalModification
|
group |
BEFREE |
No significant difference of FH promoter methylation status between the leiomyoma (11.76 %) and myometrium (5.88 %) tissues was observed (P = 0.176).
|
22528940 |
2012 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This study provides the first evidence (to our knowledge) that women with germline mutations in FH and with clinical HLRCC have an increased risk of developing uterine fibroids.
|
19075141 |
2008 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL.
|
17613550 |
2007 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Rare, sporadic uterine leiomyomas arise in the setting of severe metabolic aberration due to a somatic fumarate hydratase mutation.
|
24309325 |
2014 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We show that FH mutations alter significantly the expression profiles of fibroids, most strikingly increasing the expression of genes involved in glycolysis.
|
16319128 |
2006 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.
|
14632190 |
2003 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Eleven out of 21 female FH mutation carriers underwent surgical treatment for symptomatic uterine leiomyomas at an average of 35 years.
|
20618355 |
2011 |
|
Uterine Fibroids
|
0.200 |
Biomarker
|
group |
BEFREE |
These data indicate that loss of FH might be a significant event in the pathogenesis of a subset of nonsyndromic ULs.
|
15334541 |
2004 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Multiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase gene.
|
16309500 |
2006 |
|
Uterine Fibroids
|
0.200 |
AlteredExpression
|
group |
BEFREE |
The overall sensitivity and specificity of absent FH expression in leiomyomas for detection of patients with HLRCC were 70.0% and 97.6%, respectively.
|
28288038 |
2017 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
|
11283798 |
2001 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas
|
12177782 |
2002 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In MCUL kindreds, the majority of females with FH mutations have both skin and uterine leiomyomas.
|
16029320 |
2005 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Individuals with germ line or somatic mutations of fumarate hydratase are predisposed to the development of leiomyomas of the skin and uterus.
|
26919578 |
2016 |
|
Uterine Fibroids
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
|
26493120 |
2016 |