Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.L36R
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MED12

NM_005120.3:p.L36R

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

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

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

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

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

Osteosarcoma's genetic landscape painted by genes' mutations.

Urban W et al.

Acta Biochimica Polonica, 2023

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

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

Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Mancikova V et al.

Molecular Oncology, 2023

36334078 (PubMed )
Supplement: MOL2-17-82-s003.pdf

Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast.

da Silva EM et al.

Journal of Clinical Pathology, 2022

Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Massoth LR et al.

The Oncologist, 2021

33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants

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

Structure and noncanonical Cdk8 activation mechanism within an Argonaute-containing Mediator kinase module.

Li YC et al.

Science Advances, 2021

A precisely positioned MED12 activation helix stimulates CDK8 kinase activity.

Klatt F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia.

Ghia EM et al.

Blood, 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

Adenomatoid tumors of the male and female genital tract are defined by TRAF7 mutations that drive aberrant NF-kB pathway activation.

Goode B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018

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

Hayden MA et al.

Cancer Genetics, 2018

Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.

Park MJ et al.

The Journal of Biological Chemistry, 2018

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

Garcia-Dios DA et al.

British Journal of Cancer, 2018

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

Ajabnoor GMA et al.

Frontiers in Genetics, 2018

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

Comprehensive screening for MED12 mutations in gynaecological mesenchymal tumours identified morphologically distinctive mixed epithelial and stromal tumours.

Yuan CT 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

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

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

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

Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.

Kämpjärvi K et al.

The Prostate, 2016

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

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

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

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

Mediator kinase module and human tumorigenesis.

Clark AD et al.

Critical Reviews in Biochemistry and Molecular Biology, 2015

Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.

Kämpjärvi K et al.

Human Mutation, 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

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

Lim WK et al.

Nature Genetics, 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."