|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression.
|
28592321 |
2017 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
MED12-negative leiomyomas contain copy number alterations involving the Mediator complex subunits such as MED8, MED18, CDK8, and long intergenic nonprotein coding RNA340 (CASC15), which may affect the Mediator architecture and/or its transcriptional activity.
|
27889101 |
2017 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
In contrast, TAF in MED12-LM proliferated in response to estradiol, whereas progesterone had no effect.
|
29055020 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Furthermore, the mutation spectrum of MED12 in the concurrent leiomyomas was noticeably different.
|
28693134 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Specific somatic MED12 mutations in prostate cancer and uterine leiomyomas accumulate in two separate regions of the gene and promote tumorigenesis through clearly distinct mechanisms.
|
26383637 |
2016 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations in leiomyomas with bizarre nuclei were detected outside the hotspot region.
|
27363490 |
2016 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 gene was mutated in 31.07 % of the uterine leiomyomas.
|
26298726 |
2016 |
|
Uterine Fibroids
|
0.100 |
AlteredExpression
|
group |
BEFREE |
RAD51 paralog B (RAD51B), the preferential translocation partner of HMGA2, was up-regulated in MED12 mutant lesions, suggesting a role for this gene in the genesis of leiomyomas.
|
26787895 |
2016 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
We conclude that in contrast to the solitary ULs, the multiple ULs predominantly originate through MED12-associated mechanisms.
|
26630226 |
2016 |
|
Uterine Fibroids
|
0.100 |
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
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Together, our results show that the common human leiomyoma-associated MED12 variant can cause leiomyomas in mice via a gain of function that drives genomic instability, which is frequently observed in human leiomyomas.
|
26193636 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Frequent mutations in MED12 exon 2 in the phyllodes tumors suggest that it may share genetic etiology with uterine leiomyoma, a subgroup of uterine leiomyosarcomas and breast fibroadenoma.
|
25865354 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
PCs always showed a wild type MED12 gene status, even when associated to a UL harboring a specific MED12 aberration.
|
25363374 |
2015 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
The recent discovery of somatic mutations involving mediator subunit complex 12 (MED12) or high-mobility group AT-hook 2 (HMGA2) in the majority of fibroids and the links to their pathophysiology were also significant advances.
|
26107781 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations were closely associated with the development of uterine leiomyomas, as opposed to other uterine pathologies in Chinese patients, and PCR-based HRMA was found to be a reliable method for the detection of MED12 mutations.
|
25615570 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Using MED12 sequencing and SNP arrays, we searched for clonally related uterine leiomyomas in a set of 103 tumors from 14 consecutive patients who entered hysterectomy owing to symptomatic lesions.
|
25964426 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our results clearly demonstrate that the MED12 gene exon 2 is frequently mutated in human uterine fibroids in Southern United States women.
|
25325994 |
2015 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
The discovery of MED12 involvement in leiomyoma genesis has dramatically contributed to increasing our knowledge on leiomyomas, but many questions remain.
|
26037152 |
2015 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The fibroadenoma MED12 mutation spectrum is nearly identical to that of previously reported MED12 lesions in uterine leiomyoma but not those of other tumors.
|
25038752 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
|
24746821 |
2014 |
|
Uterine Fibroids
|
0.100 |
Biomarker
|
group |
BEFREE |
These results further emphasize the role of MED12 in uterine leiomyomas, show that exon 1 and exon 2 exert their tumorigenic effect in similar manner, and stress that exon 1 should be included in subsequent MED12 screenings.
|
24980722 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
When we further examined HMGA2 expression in all leiomyomas and leiomyosarcomas, we found that HMGA2 overexpression was exclusively present in those leiomyomas with no MED12 mutation, accounting for 10.1% (18/178) of total leiomyomas and 40% (18/45) of non-MED12 mutant leiomyomas.
|
24390224 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutation screening of altogether 70 MED12 mutation-negative uterine leiomyomas was carried out by direct sequencing.
|
24642626 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The frequency of MED12 mutations in our prospectively collected uterine leiomyoma sets was higher than in previous works.
|
25108465 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In contrast, MED12 mutations were extremely common in ULM and MALM (> 74%) but were significantly less common (< 15%) in CLM, ALM, STUMP, and LMS (P < .01).
|
24986214 |
2014 |