MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Disease: Carcinogenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE Somatic mutations in the mediator complex subunit 12 (MED12) gene play a critical role in fibroepithelial tumorigenesis. 30230586 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype 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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE Although the effect of MED12-mediated tumorigenesis appears significant irrespective of race, other genetic events such as the distribution of karyotypic abnormalities appear differently in black women. 29666002 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE These results show the critical importance of Med12 in reproductive tract development and that Med12 loss of function does not cause tumorigenesis in reproductive tissues. 29126187 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE MED12 mutations are associated with altered expressions of the genes involved in the WNT (PAX3, WNT3A, AXIN2), TGFB (TAGLN, TGFBR2, CTGF) and THRA (RXRA, THRA) signaling pathways.In conclusion, this study confirmed that MED12 plays a central oncogenic role in breast fibroepithelial tumorigenesis and identified a limited number of altered signaling pathways that maybe associated with MED12 mutations. 27806318 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE To elucidate the molecular mechanisms leading to tumorigenesis in prostate cancer, we analyzed global interaction profiles of wild-type and L1224F mutant MED12 with quantitative affinity purification-mass spectrometry (AP-MS). 26383637 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE MED12 and uterine smooth muscle oncogenesis: State of the art and perspectives. 26037152 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE Recent identification of somatic MED12 mutations in most uterine leiomyomas brings a new venue for the study of the tumorigenesis of leiomyomas. 24390224 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 GeneticVariation phenotype BEFREE Contrary to the findings of Barbieri et al, our data indicate either that the p.L1224F mutation in the MED12 gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours. 23661306 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 AlteredExpression phenotype 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
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE Mutations in CRC samples indicate that MED12 may, albeit rarely, contribute to CRC tumorigenesis. 23132392 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE All mutations resided in exon 2, suggesting that aberrant function of this region of MED12 contributes to tumorigenesis. 21868628 2011