Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44R
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MED12

NM_005120.3:p.G44R

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

Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.

Albitar L et al.

Scientific Reports, 2025

Somatic MED12 Mutations in Myometrial Cells.

Li Y et al.

Cells, 2024

39273004 (PubMed )
Supplement: cells-13-01432-s001.zip › cells-3133120-supplementary.pdf

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

Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women.

Jamaluddin MFB et al.

Frontiers in Reproductive Health, 2023

Further characterization of tryptophan metabolism and its dysregulation in fibroids.

Chuang TD et al.

F&s Science, 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

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

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

Xie SN et al.

Cancer Medicine, 2019

Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults.

Pareja F et al.

Journal of Clinical Pathology, 2019

MED12 somatic mutations encompassing exon 2 associated with benign breast fibroadenomas and not breast carcinoma in Indian women.

Darooei M et al.

Journal of Cellular Biochemistry, 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

Novel Richter Syndrome Xenograft Models to Study Genetic Architecture, Biology, and Therapy Responses.

Vaisitti T et al.

Cancer Research, 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

Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.

Hayden MA et al.

Cancer Genetics, 2018

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

Jamaluddin MFB et al.

Endocrinology, 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

Global metabolomic profiling of uterine leiomyomas.

Heinonen HR et al.

British Journal of Cancer, 2017

29073636 (PubMed )
Supplement: bjc2017361x2.xlsx › Supplementary_Table_S1

MED12 mutations and NOTCH signalling in chronic lymphocytic leukaemia.

Wu B et al.

British Journal of Haematology, 2017

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.

Comprehensive genomic profiling of malignant phyllodes tumors of the breast.

Nozad S et al.

Breast Cancer Research and Treatment, 2017

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

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

Yoon N et al.

Genes, Chromosomes & Cancer, 2016

MED12 exon 2 mutation as a highly sensitive and specific marker in distinguishing phyllodes tumours from other spindle neoplasms of the breast.

Lien HC et al.

Apmis : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica, 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

The study of MED12 gene mutations in uterine leiomyomas from Iranian patients.

Sadeghi S et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2016

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

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

MED12 mutation in patients with hysteromyoma.

Ye J et al.

Oncology Letters, 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

Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.

Cani AK et al.

Molecular Cancer Research : Mcr, 2015

Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia.

Kämpjärvi K et al.

Oncotarget, 2015

25595892 (PubMed )
Supplement: oncotarget-06-1884-s002.xlsx › Sheet1
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