Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1813K
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DICER1

NM_177438.3:p.E1813K

Associated Papers

Molecular Relationship Between Ovarian Sertoli-Leydig Cell Tumors and Their Heterologous Elements: Emphasis on the Possible Prognostic Significance of TERT Pathogenic Variants.

Trecourt A et al.

The American Journal of Surgical Pathology, 2026

Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.

Yin L et al.

Virchows Archiv : an International Journal of Pathology, 2026

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

Yang G et al.

Pathology, 2026

Unusual Cytology Features of A DICER1-Mutated Thyroid Nodule: Raising Awareness of A Potential Diagnostic Pitfall During Fine Needle Aspiration.

Dai W et al.

Cytopathology : Official Journal of the British Society for Clinical Cytology, 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

Fumarate hydratase-mutant glioma with giant-cell histology, MSH6 mutation, and hypermutation.

Mafficini A et al.

Journal of Neuropathology and Experimental Neurology, 2025

Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely Pathogenic.

Walpole S et al.

Clinical Genetics, 2025

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1 -Associated Entity, a Case Report and Literature Review.

Razack R et al.

Diagnostic Cytopathology, 2025

DICER1 mutations in Bethesda III/IV thyroid cytology samples: A multicenter observational study.

Karimkhan A et al.

Cancer Cytopathology, 2025

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Somatic DICER1-Mutant Benign Thyroid Nodules in Adults: A Group of Follicular Nodular Disease With Continuous Growth.

Meng L et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism.

Salvador L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.

Lyu Z et al.

Diagnostic Pathology, 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

Identification of Oncogenic Alterations in 124 Cases of Pediatric Papillary Thyroid Carcinoma: BEND7::ALK, DLG5::RET, and CCDC30::ROS1 Fusions Induce MAPK Pathway Activation.

Liu Y et al.

Endocrine Pathology, 2025

Diagnosis and treatment of thyroblastoma: a case report and review of literature.

Chen X et al.

Frontiers in Oncology, 2025

Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.

Whaley RD et al.

Endocrine Pathology, 2024

DICER1 Mutations Define the Landscape of Poorly Differentiated Thyroid Carcinoma in Children and Young Adults : Case Report and Literature Review.

Ver Berne J et al.

The American Journal of Surgical Pathology, 2024

DICER1-sarcomas of GYN tract: Expanding on an emerging entity.

Dashti NK et al.

Human Pathology, 2024

Small Multi-Gene DNA Panel Can Aid in Reducing the Surgical Resection Rate and Predicting the Malignancy Risk of Thyroid Nodules.

Oh MY et al.

Endocrinology and Metabolism (seoul, Korea), 2024

Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype-phenotype correlation study.

Condello V et al.

Virchows Archiv : an International Journal of Pathology, 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

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

Pelletier D et al.

Virchows Archiv : an International Journal of Pathology, 2024

Comprehensive evaluation of cytomorphologic, histologic, and molecular features of DICER1-altered thyroid lesions on FNA: A multipractice experience.

Lengyel K et al.

Cancer Cytopathology, 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

Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study.

Alexiev BA et al.

Pathology, Research and Practice, 2024

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

38898688 (PubMed )
Supplement: CAM4-13-e7340-s001.docx

Synchronous papillary and follicular thyroid carcinomas: the first retrospective cohort study and literature review.

Ye WD et al.

Translational Cancer Research, 2024

Shedding light on the DICER1 mutational spectrum of uncertain significance in malignant neoplasms.

Bug DS et al.

Frontiers in Molecular Biosciences, 2024

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility.

Pelletier D et al.

Nar Cancer, 2023

DICER1 Mutations Do Not Always Indicate Dismal Prognosis in Pediatric Poorly Differentiated Thyroid Carcinomas.

Yegen G et al.

Endocrine Pathology, 2023

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.

Fraire CR et al.

Jco Precision Oncology, 2023

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.

Spinelli C et al.

Cancers, 2023

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

DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.

Ricarte-Filho JC et al.

Frontiers in Endocrinology, 2023

Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.

Leelatian N et al.

Journal of Neuropathology and Experimental Neurology, 2022

An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.

McCluggage WG et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2F

Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.

Roy P et al.

Pediatric Blood & Cancer, 2022

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

Vibert R et al.

Clinical Chemistry, 2022

Expanding the spectrum of thyroid carcinoma with somatic DICER1 mutation: a survey of 829 thyroid carcinomas using MSK-IMPACT next-generation sequencing platform.

Ghossein CA et al.

Virchows Archiv : an International Journal of Pathology, 2022

Anaplastic sarcoma of the kidney with DICER1 mutation: A case report.

Yamaoka T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring Clinicopathologic Features and Utility of Molecular Profiling.

Baran JA et al.

Hormone Research in Paediatrics, 2022

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Barresi V et al.

Acta Neuropathologica Communications, 2021

34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.

Azzollini J et al.

Tumori, 2021

Molecular characterization of DICER1-mutated pituitary blastoma.

Nadaf J et al.

Acta Neuropathologica, 2021

Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

De Paolis E et al.

Journal of Clinical Medicine, 2021

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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."