Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1813V
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DICER1

NM_177438.3:p.E1813V

Associated Papers

Mutation-tissue specificity in DICER1 syndrome: insights from familial pleuropulmonary blastoma and a pan-tumour hotspot analysis.

Yang G et al.

Pathology, 2026

YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class "embryonal tumor with multilayered rosettes, non-C19MC-altered" in the Heidelberg central nervous system tumor classifier and "embryonal tumor with multilayered rosettes-DICER" in the NIH classifier.

Godfraind C et al.

Acta Neuropathologica Communications, 2025

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

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

Prognostic Significance of Germline DICER1 Pathogenic or Likely Pathogenic Variants in Outcomes of Ovarian Sertoli-Leydig Cell Tumor.

Nelson AT et al.

Jco Precision Oncology, 2025

Embryonal tumor with multilayered rosettes arising from the internal auditory canal of an adult: Illustrative case with molecular investigations.

Sheriff A et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024

Thyroid nodules with DICER1 mutation or PTEN alteration: A comparative cytologic, clinical, and molecular study of 117 FNA cases.

Jitpasutham T et al.

Cancer Cytopathology, 2024

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Kommoss FKF et al.

Nature Communications, 2023

36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM6_ESM.xlsx › Tabelle1

PRAME protein expression in DICER1-related tumours.

Thorner PS et al.

The Journal of Pathology. Clinical Research, 2022

PRAME protein expression in DICER1-related tumours.

Thorner PS et al.

The Journal of Pathology. Clinical Research, 2022

35297207 (PubMed )
Supplement: CJP2-8-294-s001.pdf

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Vibert R et al.

Clinical Chemistry, 2022

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.

Yoon JY et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2021

Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Ni Y et al.

Pharmacogenomics and Personalized Medicine, 2021

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

de Kock L et al.

Human Mutation, 2019

Multinodular goitre is a gateway for molecular testing of DICER1 syndrome.

Oliver-Petit I et al.

Clinical Endocrinology, 2019

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome.

van der Tuin K et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

DICER1 gene mutations in endocrine tumors.

Solarski M et al.

Endocrine-related Cancer, 2018

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

Saskin A et al.

Pediatric Blood & Cancer, 2018

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter.

de Kock L et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Gene mutations in Cushing's disease.

Xiong Q et al.

Biomedical Reports, 2016

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease.

Sahakitrungruang T et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

de Kock L et al.

Acta Neuropathologica, 2014

DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Schultz KA et al.

Pathology Case Reviews, 2014

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