Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1705K
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DICER1

NM_177438.3:p.E1705K

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

Oncogenic NRAS Mutation in Incipient Sarcomatous Transformation of Cystic Nephroma From a Patient With DICER1-Related Tumor Predisposition Syndrome.

Cortes-Santiago N et al.

Pediatric Blood & Cancer, 2026

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Evaluation of the genetic alterations landscape of differentiated thyroid cancer in children.

Çetiner EB et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

Ovarian Sertoli-Leydig cell tumors with heterologous rhabdomyosarcoma: Clinicopathologic features and molecular analysis highlighting recurrent genetic alterations.

Zou YS et al.

Histopathology, 2025

[Clinical and pathological characteristics of pediatric tumors with DICER1 mutations detected by Sanger sequencing].

Zhang M et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of Pathology, 2025

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

Primary Intracranial Sarcoma, DICER1-Mutant, Diagnosed by DNA Methylation Profiling in an Adult Patient with Germline DICER1 Mutation: A Case Report.

Koleják R et al.

International Journal of Surgical Pathology, 2025

Molecular Characterization and Phenotype-Genotype Correlation of Childhood Thyroid Nodules and Cancers: A Study of 62 Patients.

Aycan Z et al.

Hormone Research in Paediatrics, 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

Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2025

Primary Intracranial Sarcoma, DICER1-Mutant, With Prominent Chondroid Differentiation: Case Report and Summary of Reported Patients in Literature.

Karia K et al.

International Journal of Surgical Pathology, 2025

DICER1 mutations in Bethesda category II, III, and IV thyroid nodules: A mutually exclusive relationship with BRAFV600E mutation.

Wang Y et al.

Cancer Cytopathology, 2025

A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.

Němejcová K et al.

Virchows Archiv : an International Journal of Pathology, 2025

39592485 (PubMed )
Supplement: 428_2024_3984_MOESM3_ESM.xlsx › all_detected_pathogenic_m.

Focal High-Grade Areas with a Tumor-in-Tumor Pattern: Another Feature of Pediatric DICER1-Associated Thyroid Carcinoma?

Schiavo Lena M et al.

Endocrine Pathology, 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

DICER1 Mutation-Associated Follicular Thyroid Tumor With Bizarre and Pleomorphic Nuclei.

Tran MT et al.

Cureus, 2025

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Fiorica PN et al.

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

39992227 (PubMed )
Supplement: ccr-24-2785_supplementary_data_1_suppds1.xlsx › Supplemental_Table_6

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

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

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

Götz L et al.

Translational Oncology, 2025

39740515 (PubMed )
Supplement: mmc6.xlsx › Non_Wilms_tumor_cultures

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

Chen X et al.

Frontiers in Oncology, 2025

Whole genome profiling of rare pediatric thoracic tumors elucidates a YAP1::LEUTX fusion in an unclassified biphasic embryonal neoplasm.

Lukose G et al.

Pathology, Research and Practice, 2024

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

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules.

Mastnikova K et al.

Thyroid : Official Journal of the American Thyroid Association, 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

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

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

Pathogenic Somatic Mutation of DICER1 and Clinicopathological Features in Nasal Chondromesenchymal Hamartomas: A Series of Nine Cases.

Hu C et al.

The American Journal of Surgical Pathology, 2024

Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors.

Alturkustani M et al.

Translational Pediatrics, 2024

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

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

Bug DS et al.

Frontiers in Molecular Biosciences, 2024

DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.

Lethongsavarn V et al.

Genes, Chromosomes & Cancer, 2023

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.

Apellaniz-Ruiz M et al.

Familial Cancer, 2023

Targeting mutant dicer tumorigenesis in pleuropulmonary blastoma via inhibition of RNA polymerase I.

Wong MRE et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2023

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.

Spinelli C et al.

Cancers, 2023

Bilateral Ovarian Sertoli-Leydig Cell Tumors Harboring DICER1 Germline and Distinct Somatic Mutations: Case Report and Literature Review.

Hughes CE et al.

Fetal and Pediatric Pathology, 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

DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

Stambouli A et al.

Frontiers in Pediatrics, 2023

Mutational profiling of Chinese patients with thyroid cancer.

Du Y et al.

Frontiers in Endocrinology, 2023

37465126 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_2

DICER1 Mutations Occur in More Than One-Third of Follicular-Patterned Pediatric Papillary Thyroid Carcinomas and Correlate with a Low-Risk Disease and Female Gender Predilection.

Onder S et al.

Endocrine Pathology, 2022

PRAME protein expression in DICER1-related tumours.

Thorner PS et al.

The Journal of Pathology. Clinical Research, 2022

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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."