Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1709G
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DICER1

NM_177438.3:p.D1709G

Associated Papers

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

Ahmed A et al.

Bjc Reports, 2025

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

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

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

Clinicopathologic and Molecular Characteristics of Resected Thoracic Mass Lesions in the Pediatric Population: A 25-Year Institutional Experience From a Tertiary Care Center.

Villalba JA et al.

Archives of Pathology & Laboratory Medicine, 2024

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules.

Mastnikova K et al.

Thyroid : Official Journal of the American Thyroid Association, 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

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

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

Radiation-induced osteosarcoma in a patient with DICER1 syndrome.

Tanimura K et al.

Pediatric Blood & Cancer, 2022

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

Morphological and Molecular Characteristics in Low Grade Fetal Adenocarcinoma of the Lung: Two Case Reports and Literature Review.

Yanagawa N et al.

International Journal of Surgical Pathology, 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

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

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

Macrofollicular variant follicular thyroid tumors are DICER1 mutated and exhibit distinct histological features.

Juhlin CC et al.

Histopathology, 2021

NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake.

Lee YA et al.

The Journal of Clinical Investigation, 2021

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.

Yoon JY et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2021

Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse.

Ciceri S et al.

Cancer Gene Therapy, 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

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Rare DICER1 and Absent FOXL2 Mutations Characterize Ovarian Juvenile Granulosa Cell Tumors.

Baillard P et al.

The American Journal of Surgical Pathology, 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

Cytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology-histopathology correlation in 7 patients.

Darbinyan A et al.

Cancer Cytopathology, 2020

Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Li J et al.

Journal of Translational Medicine, 2020

32738923 (PubMed )
Supplement: 12967_2020_2449_MOESM2_ESM.xlsx › Supplementary_Table_S1

Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.

Lee YA et al.

Thyroid : Official Journal of the American Thyroid Association, 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_MOESM5_ESM.xlsx › msk_clinical_2

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

[Sex cord-stromal tumors of the ovary : Current aspects with a focus on granulosa cell tumors, Sertoli-Leydig cell tumors, and gynandroblastomas].

Kommoss F et al.

Der Pathologe, 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

Distinct DICER1 Hotspot Mutations Identify Bilateral Tumors as Separate Events.

Chen KS et al.

Jco Precision Oncology, 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

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

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

Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung.

de Kock L et al.

Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016

DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.

Rutter MM et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_10.xlsx › CCF_DP_clustering
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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."