Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1705V
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DICER1

NM_177438.3:p.E1705V

Associated Papers

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 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

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

Establishment and Characterization of a Novel Pleuropulmonary Blastoma Cell Line.

Kato K et al.

Genes, Chromosomes & Cancer, 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

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

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

DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

Apellaniz-Ruiz M et al.

The Journal of Pathology. Clinical Research, 2020

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

DICER1 hot-spot mutations in ovarian gynandroblastoma.

Wang Y et al.

Histopathology, 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

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.

Sahm F et al.

Genes, Chromosomes & Cancer, 2016

Targeted genomic analysis of Müllerian adenosarcoma.

Howitt BE et al.

The Journal of Pathology, 2015

Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.

Seki M et al.

Cancer Research, 2014

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