Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44V
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MED12

NM_005120.3:p.G44V

Associated Papers

UTERINE FIBROIDS.

Bulun SE et al.

Physiological Reviews, 2025

Massively parallel immunopeptidome by DNA sequencing provides insights into cancer antigen presentation.

Shi Q et al.

Nature Genetics, 2025

Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.

Kamdee K et al.

Scientific Reports, 2025

40181060 (PubMed )
Supplement: 41598_2025_95834_MOESM2_ESM.xlsx › S._Data_4.

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

Durable disease regression with copanlisib treatment in PI3K-mutated metastasizing ameloblastoma: A case report.

Lynch MM et al.

Rare Tumors, 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

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

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

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

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

Two progressed malignant phyllodes tumors of the breast harbor alterations in genes frequently involved in other advanced cancers.

Reinisch M et al.

Orphanet Journal of Rare Diseases, 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

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

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

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

Genomic characterisation of breast fibroepithelial lesions in an international cohort.

Md Nasir ND et al.

The Journal of Pathology, 2019

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

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

Molecular insights into paediatric breast fibroepithelial tumours.

Tay TKY et al.

Histopathology, 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

Global metabolomic profiling of uterine leiomyomas.

Heinonen HR et al.

British Journal of Cancer, 2017

29073636 (PubMed )
Supplement: bjc2017361x2.xlsx › Supplementary_Table_S1

Leiomyoma with bizarre nuclei: a morphological, immunohistochemical and molecular analysis of 31 cases.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

28664937 (PubMed )
Supplement: NIHMS883213-supplement-3.xlsx › Sheet1

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.

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

Fusco N et al.

Histopathology, 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

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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."