Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1810N
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DICER1

NM_177438.3:p.D1810N

Associated Papers

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

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

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

Karimkhan A et al.

Cancer Cytopathology, 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

Widening the spectrum of players affected by genetic changes in Wilms tumor relapse.

Ciceri S et al.

Iscience, 2024

39262773 (PubMed )
Supplement: mmc1.xlsx › per_paper

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

Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Mancikova V et al.

Molecular Oncology, 2023

36334078 (PubMed )
Supplement: MOL2-17-82-s003.pdf

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

Vibert R et al.

Clinical Chemistry, 2022

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.

Pontén E et al.

Journal of Medical Genetics, 2022

33208384 (PubMed )
Supplement: jmedgenet-2020-107385supp002.pdf

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

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

The prevalence of germline DICER1 pathogenic variation in cancer populations.

Kim J et al.

Molecular Genetics & Genomic Medicine, 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

Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations.

Gullo I et al.

American Journal of Clinical Pathology, 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

The oncogenic roles of DICER1 RNase IIIb domain mutations in ovarian Sertoli-Leydig cell tumors.

Wang Y et al.

Neoplasia (new York, N.y.), 2015

26408257 (PubMed )
Supplement: mmc2.pdf

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour.

Torrezan GT et al.

Nature Communications, 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

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

Heravi-Moussavi A et al.

The New England Journal of Medicine, 2012

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