Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44A
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MED12

NM_005120.3:p.G44A

Associated Papers

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

UTERINE FIBROIDS.

Bulun SE et al.

Physiological Reviews, 2025

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Jokinen V et al.

Bjc Reports, 2025

40016412 (PubMed )
Supplement: 44276_2025_127_MOESM3_ESM.xlsx › Sheet1

Differential Expression of Small Non-Coding RNAs in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2025

The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.

Chuang TD et al.

International Journal of Molecular Sciences, 2024

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2023

MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.

Nagai K et al.

American Journal of Obstetrics and Gynecology, 2023

Are both distinct epithelial and stromal cells molecular analysis from phyllodes tumors versus fibroadenoma components affected in breast fibroepithelial progression?

Waitzberg ÂFL et al.

Acta Cirurgica Brasileira, 2023

Further characterization of tryptophan metabolism and its dysregulation in fibroids.

Chuang TD et al.

F&s Science, 2022

Comparison of MED 12 gene mutation and microRNA-124 expression in leiomyoma and myometrium of Turkish patients.

Demiroglu C et al.

Ginekologia Polska, 2022

Long Noncoding RNA MIAT Modulates the Extracellular Matrix Deposition in Leiomyomas by Sponging MiR-29 Family.

Chuang TD et al.

Endocrinology, 2021

Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases.

Srivastava S et al.

Journal of Cellular Physiology, 2021

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Hotspot_Mutations

Droplet-digital PCR reveals frequent mutations in TERT promoter region in breast fibroadenomas and phyllodes tumours, irrespective of the presence of MED12 mutations.

Otsuji K et al.

British Journal of Cancer, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Ectopic expression of CYP24A1 circular RNA hsa_circ_0060927 in uterine leiomyomas.

Fazeli E et al.

Journal of Clinical Laboratory Analysis, 2020

The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis.

Xie SN et al.

Cancer Medicine, 2019

Mediator Kinase Disruption in MED12-Mutant Uterine Fibroids From Hispanic Women of South Texas.

Park MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.

Jamaluddin MFB et al.

Endocrinology, 2018

Integrative genomic and transcriptomic analysis of leiomyosarcoma.

Chudasama P et al.

Nature Communications, 2018

29321523 (PubMed )
Supplement: 41467_2017_2602_MOESM4_ESM.xlsx › 4_Somatic_SNVs

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

Garcia-Dios DA et al.

British Journal of Cancer, 2018

Analysis of MED12 Mutation in Multiple Uterine Leiomyomas in South Korean patients.

Lee M et al.

International Journal of Medical Sciences, 2018

Expanded Somatic Mutation Spectrum of MED12 Gene in Uterine Leiomyomas of Saudi Arabian Women.

Ajabnoor GMA et al.

Frontiers in Genetics, 2018

Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast.

Geyer FC et al.

Molecular Oncology, 2017

28267263 (PubMed )
Supplement: MOL2-11-913-s007.pdf

Prevalence and clinical significance of mediator complex subunit 12 mutations in 362 Han Chinese samples with uterine leiomyoma.

Wu J et al.

Oncology Letters, 2017

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Mäkinen N et al.

Molecular Cancer, 2017

28592321 (PubMed )
Supplement: 12943_2017_672_MOESM5_ESM.xlsx › Table_S3.

Factors affecting the loss of MED12-mutated leiomyoma cells during in vitro growth.

Bloch J et al.

Oncotarget, 2017

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Heinonen HR et al.

Scientific Reports, 2017

28432313 (PubMed )
Supplement: 41598_2017_1199_MOESM1_ESM.pdf

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays.

Yatsenko SA et al.

Fertility and Sterility, 2017

MED12 mutations in breast phyllodes tumors: evidence of temporal tumoral heterogeneity and identification of associated critical signaling pathways.

Laé M et al.

Oncotarget, 2016

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K et al.

British Journal of Cancer, 2016

27187686 (PubMed )
Supplement: bjc2016130x3.pdf

Frequency of MED12 mutations in phyllodes tumors: Inverse correlation with histologic grade.

Yoon N et al.

Genes, Chromosomes & Cancer, 2016

Mutational analysis of MED12 exon 2 in a spectrum of fibroepithelial tumours of the breast: implications for pathogenesis and histogenesis.

Lien HC et al.

Histopathology, 2016

Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in TP53, ATRX, and MED12.

Mäkinen N et al.

Plos Genetics, 2016

26891131 (PubMed )
Supplement: pgen.1005850.s004.pdf

MED12 somatic mutations in fibroadenomas and phyllodes tumours of the breast.

Piscuoglio S et al.

Histopathology, 2015

MED12 is frequently mutated in breast phyllodes tumours: a study of 112 cases.

Ng CC et al.

Journal of Clinical Pathology, 2015

MED12 exon 2 mutations in phyllodes tumors of the breast.

Nagasawa S et al.

Cancer Medicine, 2015

Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast--implications for tumor biology and pathological diagnosis.

Pfarr N et al.

Genes, Chromosomes & Cancer, 2015

Mutational analysis of MED12 in fibroadenomas and phyllodes tumors of the breast by means of targeted next-generation sequencing.

Mishima C et al.

Breast Cancer Research and Treatment, 2015

Frequent MED12 mutations in phyllodes tumours of the breast.

Yoshida M et al.

British Journal of Cancer, 2015

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids.

Halder SK et al.

Molecular Genetics and Genomics : Mgg, 2015

MED12 mutation frequency in unselected sporadic uterine leiomyomas.

Heinonen HR et al.

Fertility and Sterility, 2014

MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.

Bertsch E et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."