MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE In conclusion, we confirm the frequent occurrence of MED12 mutations in fibroadenomas, provide evidence that most intracanalicular fibroadenomas closely resembling benign phyllodes as well as benign phyllodes tumors harbor MED12 mutations, and conclude that MED12 mutations in malignant phyllodes tumors appear to be relatively rare. 25931199 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE It is thus speculated that FAs with MED12 mutation are more likely to progress to PTs. 26093648 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Although MED12 mutations have been frequently found in fibroadenomas and phyllodes tumors, the landscapes of genetic alterations across the fibroepithelial tumor spectrum remain unclear. 26437033 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 Biomarker disease CTD_human First, we frequently observed MED12 and RARA mutations in both fibroadenomas and phyllodes tumors, emphasizing the importance of these mutations in fibroepithelial tumorigenesis. 26437033 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Taken together, this study defines the genomic landscape underlying phyllodes tumor development, suggests potential molecular correlates to histologic grade, expands the spectrum of human tumors with frequent recurrent MED12 mutations, and identifies IGF1R and EGFR as potential therapeutic targets in malignant cases. 25593300 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Our observations suggest a critical role of TERT promoter mutations, in cooperation with MED12 mutations, in the development of phyllodes tumors. 26355235 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE The aim of this study was to define whether phyllodes tumours (PTs) would harbour MED12 somatic mutations in a way akin to FAs. 25855048 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Mutations in MED12 exon 2 were analyzed in nine fibroadenomas and eleven phyllodes tumors via Sanger sequencing. 25865354 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE MED12 mutations were frequent among the phyllodes tumours of the breast, regardless of the tumour grade. 25839987 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Patients with phyllodes tumours that harboured MED12 mutations experienced improved disease-free survivals, with higher recurrence likelihood in those without MED12 mutations (HR 9.99, 95% CIs 1.55 to 64.42, p=0.015). 26018969 2015
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Recurrent MED12 mutations were found in 56% of PTs; in addition, mutations affecting cancer genes (eg TP53, RB1, SETD2 and EGFR) were exclusively detected in borderline and malignant PTs. 26832993 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Mutations in exon 2 of the gene encoding MED12, a key subunit of the regulatory kinase module in Mediator, are extremely frequent in uterine leiomyomas, breast fibroadenomas, and phyllodes tumors. 26383637 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE MED12 mutation was a common molecular alteration in PT and the frequency of MED12 mutation decreased with increasing histologic grade. 26856273 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE The high frequency and similar patterns of MED12 mutations in FAs and various grades of PTs implies that the MED12 mutation is a common and early pathological event in these fibroepithelial tumours. 26109290 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE In conclusion, we demonstrated the restriction of MED12 exon 2 mutation to PTs (73.6%, 39/53) and its absence in other SNB. 26860948 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 Biomarker disease BEFREE MED12 was not significantly different between fibroadenomas and phyllodes tumours. 27056456 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE MED12 exon 1 and 2 mutation status and some of the altered genes identified in this study could constitute useful diagnostic or prognostic markers, and form the basis for novel therapeutic strategies for PTs. 27806318 2016
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE Recent developments have significantly expanded our understanding of the pathogenesis of fibroepithelial lesions, highlighting fibroadenomas as true neoplasms and underscoring a commonality with phyllodes tumors in the form of recurrent MED12 exon 2 mutations. 28688536 2017
CUI: C0010701
Disease: Phyllodes Tumor
Phyllodes Tumor
0.400 GeneticVariation disease BEFREE This study has shown that MED12 mutations can be heterogeneous in both synchronous and recurrent PTs unlike TERT mutations. 29315289 2018