Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44C
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MED12

NM_005120.3:p.G44C

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

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

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

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

Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas.

Goad J et al.

Human Reproduction (oxford, England), 2022

Myometrial oxidative stress drives MED12 mutations in leiomyoma.

Li Y et al.

Cell & Bioscience, 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

MED12 exon 2 and TERT promoter mutations in primary and recurrent breast fibroepithelial lesions.

Hu Y et al.

Pathology International, 2021

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

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

Corachán A et al.

Fertility and Sterility, 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

Ectopic expression of CYP24A1 circular RNA hsa_circ_0060927 in uterine leiomyomas.

Fazeli E et al.

Journal of Clinical Laboratory Analysis, 2020

The emerging role of mediator complex subunit 12 in tumorigenesis and response to chemotherapeutics.

Zhang S et al.

Cancer, 2020

Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations.

Inoue S et al.

Nature Communications, 2019

31857578 (PubMed )
Supplement: 41467_2019_13708_MOESM11_ESM.xlsx › SD8_SNV_LM

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

Xie SN et al.

Cancer Medicine, 2019

Proteomic Analysis Identifies Tenascin-C Expression Is Upregulated in Uterine Fibroids.

Jamaluddin MFB et al.

Reproductive Sciences (thousand Oaks, Calif.), 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

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

Pareja F et al.

Journal of Clinical Pathology, 2019

LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the MED12 mutation pattern.

Akbari M et al.

International Journal of Women's Health, 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

Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers.

Pozdeyev N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s022.xlsx › CRC.Drivers.Edited

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

Molecular pathology of thyroid tumours of follicular cells: a review of genetic alterations and their clinicopathological relevance.

Acquaviva G et al.

Histopathology, 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

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R et al.

Acta Neuropathologica Communications, 2017

29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG6

Genomic Alterations in Fatal Forms of Non-Anaplastic Thyroid Cancer: Identification of MED12 and RBM10 as Novel Thyroid Cancer Genes Associated with Tumor Virulence.

Ibrahimpasic T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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.

Molecular alterations in lesions of anogenital mammary-like glands and their mammary counterparts including hidradenoma papilliferum, intraductal papilloma, fibroadenoma and phyllodes tumor.

Konstantinova AM et al.

Annals of Diagnostic Pathology, 2017

Recurrent NAB2-STAT6 gene fusions and oestrogen receptor-α expression in pulmonary adenofibromas.

Fusco N et al.

Histopathology, 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

Comprehensive genomic profiling of malignant phyllodes tumors of the breast.

Nozad S et al.

Breast Cancer Research and Treatment, 2017

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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."