Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1810V
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DICER1

NM_177438.3:p.D1810V

Associated Papers

The molecular profile of ovarian struma ovarii.

Calejero I et al.

Human 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

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

Germline DICER1 variants and thyroblastoma: caution is needed in classifying variants as likely pathogenic or pathogenic.

Pelletier D et al.

Virchows Archiv : an International Journal of Pathology, 2026

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

Karimkhan A et al.

Cancer Cytopathology, 2025

DICER1-Related Pediatric Thyroid Neoplasm with Follicular and Morular Growth: A Tumor that Did Not Read the Textbook.

Cameselle-Teijeiro JM et al.

Endocrine 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

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

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

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.

Innella G et al.

Clinical Genetics, 2025

39707869 (PubMed )
Supplement: CGE-107-570-s004.docx

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

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

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

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

Ye WD et al.

Translational Cancer Research, 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

Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors.

Minna E et al.

Frontiers in Endocrinology, 2023

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

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

Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.

Garcia A et al.

Cancer Genetics, 2022

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

Vibert R et al.

Clinical Chemistry, 2022

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

A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Mirshahi UL et al.

Jama Network Open, 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

Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Tan LC et al.

Frontiers in Oncology, 2021

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).

Li MM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

A Japanese Family with DICER1 Syndrome Found in Childhood-Onset Multinodular Goitre.

Nagasaki K et al.

Hormone Research in Paediatrics, 2020

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

de Kock L et al.

Human Mutation, 2019

Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Vedanayagam J et al.

Nature Communications, 2019

31417090 (PubMed )
Supplement: 41467_2019_11610_MOESM4_ESM.xlsx › Sheet1

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

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

Apellaniz-Ruiz M et al.

European Journal of Endocrinology, 2018

DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.

de Kock L et al.

The American Journal of Surgical Pathology, 2017

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L et al.

British Journal of Cancer, 2017

28524158 (PubMed )
Supplement: bjc2017147x1.pdf

Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.

Khan NE et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Role of Dicer1 in thyroid cell proliferation and differentiation.

Penha RCC et al.

Cell Cycle (georgetown, Tex.), 2017

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

DICER1: mutations, microRNAs and mechanisms.

Foulkes WD et al.

Nature Reviews. Cancer, 2014

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.

Klein S et al.

Journal of Medical Genetics, 2014

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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."