Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1705Q
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DICER1

NM_177438.3:p.E1705Q

Associated Papers

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

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

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules.

Mastnikova K et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

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

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

Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Ni Y et al.

Pharmacogenomics and Personalized Medicine, 2021

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_MOESM5_ESM.xlsx › msk_clinical_2

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

Apellaniz-Ruiz M et al.

The New England Journal of Medicine, 2019

DICER1 gene mutations in endocrine tumors.

Solarski M et al.

Endocrine-related Cancer, 2018

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

Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers.

Yoo SK et al.

Plos Genetics, 2016

Recurrent DICER1 hotspot mutations in endometrial tumours and their impact on microRNA biogenesis.

Chen J et al.

The Journal of Pathology, 2015

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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."