Varaico: Literature-Extracted Genetic Variants

Gene:DGCR8
Variant:p.E518K
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DGCR8

NM_022720.7:p.E518K

Associated Papers

Canonical microRNA loss drives tumor development implicating therapeutic efficacy of enoxacin in angiosarcoma.

Liu B et al.

Rna (new York, N.y.), 2026

Tracing the molecular route to progression in miRNA-biogenesis-defective thyroid lesions.

Chong AS et al.

Jci Insight, 2026

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.

Nogué C et al.

Familial Cancer, 2025

Progression of Follicular Thyroid Carcinomas to Anaplastic Thyroid Carcinomas: Molecular and Clinicopathologic Characteristics with Comparison to Papillary Thyroid Carcinoma-Derived Anaplastic Thyroid Carcinomas.

Odate T et al.

Endocrine Pathology, 2025

Assessing Microprocessor complex mutations with a Microsensor system.

Bao S et al.

Rna (new York, N.y.), 2025

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

Somatic copy number deletion of chromosome 22q in papillary thyroid carcinoma.

Lee OW et al.

European Thyroid Journal, 2025

Wilms tumor primary cultures capture phenotypic heterogeneity and facilitate preclinical screening.

Götz L et al.

Translational Oncology, 2025

MicroRNA regulator gene mutations in thyroid follicular nodular disease and thyroid cancer: does it all come down to timing?

Condello V et al.

European Thyroid Journal, 2024

MicroRNA and Rare Human Diseases.

Goel H et al.

Genes, 2024

Prevalence, Molecular Landscape, and Clinical Impact of DICER1 and DGCR8 Mutated Follicular-Patterned Thyroid Nodules.

Condello V et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

DGCR8 Microprocessor Subunit Mutation and Expression Deregulation in Thyroid Lesions.

Rodrigues L et al.

International Journal of Molecular Sciences, 2022

Screening of potential novel candidate genes in schwannomatosis patients.

Perez-Becerril C et al.

Human Mutation, 2022

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

Plotkin SR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

MicroRNAs in kidney development and disease.

Cerqueira DM et al.

Jci Insight, 2022

The DGCR8 E518K mutation found in Wilms tumors leads to a partial miRNA processing defect that alters gene expression patterns and biological processes.

Vardapour R et al.

Carcinogenesis, 2022

Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.

Paulsson JO et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.

Perez-Becerril C et al.

Human Mutation, 2021

A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2021

Regulatory Mechanism of MicroRNA Expression in Cancer.

Ali Syeda Z et al.

International Journal of Molecular Sciences, 2020

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

Rivera B et al.

The Journal of Clinical Investigation, 2020

Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.

Murphy AJ et al.

Nature Communications, 2019

31862972 (PubMed )
Supplement: 41467_2019_13646_MOESM6_ESM.xlsx › WES_SNV

DICER1 somatic mutations strongly impair miRNA processing even in benign thyroid lesions.

Poma AM et al.

Oncotarget, 2019

The genetic factors contributing to the development of Wilm's tumor and their clinical utility in its diagnosis and prognosis.

Bahrami A et al.

Journal of Cellular Physiology, 2018

A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor.

Gadd S et al.

Nature Genetics, 2017

MLLT1 YEATS domain mutations in clinically distinctive Favourable Histology Wilms tumours.

Perlman EJ et al.

Nature Communications, 2015

26635203 (PubMed )
Supplement: ncomms10013-s1.pdf

Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.

Walz AL et al.

Cancer Cell, 2015

Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors.

Wegert J et al.

Cancer Cell, 2015

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.

Torrezan GT et al.

Nature Communications, 2014

Dysregulation of microRNA biogenesis machinery in cancer.

Hata A et al.

Critical Reviews in Biochemistry and Molecular Biology, 0

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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."