Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1810H
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DICER1

NM_177438.3:p.D1810H

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

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

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

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

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

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 Mutational Spectrum in Intracranial CNS-Neoplasias-A Review and a Report from the CNS-InterREST GPOH Study Center.

Manea S et al.

Cancers, 2025

40361440 (PubMed )
Supplement: cancers-17-01513-s001.zip › cancers-3488083-supplementary.xlsx › Blatt_1_-_Tabelle_1

Clinicopathologic and Genomic Analysis of Uterine Serous Carcinomas Arising From Endometrial Hyperplasia.

Sia TY et al.

The American Journal of Surgical Pathology, 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

DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.

Sergi CM et al.

Biology, 2025

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

Chen X et al.

Frontiers in Oncology, 2025

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1E_Excluded_datasets

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

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

Ye WD et al.

Translational Cancer Research, 2024

DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.

Lethongsavarn V et al.

Genes, Chromosomes & Cancer, 2023

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 Syndrome: A Multicenter Surgical Experience and Systematic Review.

Spinelli C et al.

Cancers, 2023

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

Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Affinito O et al.

Cancer Cell International, 2022

35996174 (PubMed )
Supplement: 12935_2022_2680_MOESM5_ESM.xlsx › Stage1

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

Recurrence of Papillary Thyroid Cancer: A Systematic Appraisal of Risk Factors.

Nieto HR et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Kommoss FKF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

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

De Paolis E et al.

Journal of Clinical Medicine, 2021

Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology.

Chong AS et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract: Pathology, molecular genetics, and indications for molecular testing.

Apellaniz-Ruiz M et al.

Genes, Chromosomes & Cancer, 2021

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

Galka-Marciniak P et al.

Nucleic Acids Research, 2021

33406242 (PubMed )
Supplement: gkaa1223_supplemental_files.zip › GalkaMarciniak_Suppl_Table_S3.xlsx › Supplementare_TAble_S3

An autopsy case of prostatic rhabdomyosarcoma with DICER1 hotspot mutation.

Miyama Y et al.

Pathology International, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab3

Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate?

Agaimy A et al.

Virchows Archiv : an International Journal of Pathology, 2020

Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation.

Schultz KAP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Clinical Characteristics and Mutation Analyses of Ovarian Sertoli-Leydig Cell Tumors.

Yuan Z et al.

The Oncologist, 2020

Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations.

McCluggage WG et al.

The American Journal of Surgical Pathology, 2020

Macrofollicular Variant of Follicular Thyroid Carcinoma: A Rare Underappreciated Pitfall in the Diagnosis of Thyroid Carcinoma.

Bongiovanni M et al.

Thyroid : Official Journal of the American Thyroid Association, 2020

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

de Kock L et al.

Human Mutation, 2019

Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".

Sakaguchi M et al.

Brain Tumor Pathology, 2019

TRIM28 haploinsufficiency predisposes to Wilms tumor.

Diets IJ et al.

International Journal of Cancer, 2019

Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.

de Kock L et al.

Genes, Chromosomes & Cancer, 2019

DICER1 and FOXL2 Mutation Status Correlates With Clinicopathologic Features in Ovarian Sertoli-Leydig Cell Tumors.

Karnezis AN et al.

The American Journal of Surgical Pathology, 2019

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

Poma AM et al.

Oncotarget, 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

30260442 (PubMed )
Supplement: jc.2018-00774.sd1.pdf

DICER1 mutations are frequent in müllerian adenosarcomas and are independent of rhabdomyosarcomatous differentiation.

Bean GR et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

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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."