|
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 |
Although the role of MED12 exon 2 mutations is documented in the pathogenesis of uterine leiomyomas, its role in extrauterine smooth muscle tumorigenesis is less clear.
|
27389556 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
β-Catenin immunohistochemistry showed nuclear positivity in only 55% of the mediator complex subunit 12-mutated uterine leiomyomas, suggesting the involvement of pathways other than canonical Wnt signaling in tumorigenesis.
|
23517922 |
2013 |
|
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 |
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 |
Somatic fibroid-causing mutations in mediator complex subunit 12 (MED12), the most frequent genetic alterations in UFs (up to 85% of tumors), are implicated in transforming normal myometrial stem cells (MSCs) into tumor-forming cells, though the underlying mechanism(s) leading to these mutations remains unknown.
|
29688260 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These findings confirm that UF-linked mutations in MED12 disrupt composite Mediator-associated kinase activity and identify CDK8/19 as prospective therapeutic targets in UFs.
|
29440396 |
2018 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.
|
24746821 |
2014 |
|
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 |
Rather, a 51-nucleotide deletion mutation including partial exon 2 of mediator complex subunit 12 (MED12), a gene commonly mutated in leiomyoma, breast fibroadenoma and phyllodes tumor, was identified.
|
29629977 |
2019 |
|
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 |
Our results revealed that hsa_circ_0060927 was ectopically expressed in 33.33% of ULM tissues; although, this expression was independent of the MED12 mutation profile in the ULM samples.
|
31746073 |
2019 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 gene was mutated in 31.07 % of the uterine leiomyomas.
|
26298726 |
2016 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
MED12 mutations in the fibroids were screened by Sanger sequencing. iTRAQ was used to label the peptides in small-, medium-, and large-sized fibroid samples of annotated MED12 mutation from the same patient.
|
29730954 |
2019 |
|
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 |
|
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 |
Our results confirm the findings of similar recent studies and further show that pelvic and retroperitoneal leiomyomas harbor an increased frequency of MED12 mutations (34%) as compared with other extrauterine sites (0%; P = 0.0006), and that histologically unremarkable adjacent myometrium can harbor similar MED12 mutations.
|
24196187 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The absence of MED12 exon 2 mutations suggests that the pathogenesis of APs is separate from uterine leiomyomas.
|
30339971 |
2019 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This study confirmed the previously reported differences and discovered novel differentiating features for MED12-mutation-positive and -negative leiomyomas.
|
28432313 |
2017 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Exome sequencing identified that the majority of leiomyomas display highly specific MED12 mutations.
|
25106763 |
2014 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, G>A transitions of nucleotides c.130 or c.131 correlate with a significantly larger size of the fibroids compared to other MED12 mutations thus explaining the high prevalence of the former mutations among clinically detectable fibroids.
|
22223266 |
2012 |
|
Uterine Fibroids
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Unsupervised clustering of results from DNA methylation analyses segregates normal myometrium from fibroids and further segregates the fibroids into subtypes characterized by MED12 mutation or activation of either HMGA2 or HMGA1 expression.
|
31851934 |
2019 |
|
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 |