Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1810Y
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DICER1

NM_177438.3:p.D1810Y

Associated Papers

The molecular profile of ovarian struma ovarii.

Calejero I et al.

Human Pathology, 2026

Molecular Relationship Between Ovarian Sertoli-Leydig Cell Tumors and Their Heterologous Elements: Emphasis on the Possible Prognostic Significance of TERT Pathogenic Variants.

Trecourt A et al.

The American Journal of Surgical 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

Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline DICER1 Pathogenic Variant.

Pho DH et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2026

Ovarian Sertoli-Leydig cell tumors with heterologous rhabdomyosarcoma: Clinicopathologic features and molecular analysis highlighting recurrent genetic alterations.

Zou YS et al.

Histopathology, 2025

A Distinctive DICER1-Related Wilms-Like Uterine Tumor: A Report of Eight Cases.

Turashvili G et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

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

Contribution of Germline Predisposition to Pediatric Thyroid Cancer.

Harrison C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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

Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma.

Fang X et al.

Clinical Endocrinology, 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

A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.

Němejcová K et al.

Virchows Archiv : an International Journal of Pathology, 2025

39592485 (PubMed )
Supplement: 428_2024_3984_MOESM3_ESM.xlsx › all_detected_pathogenic_m.

Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults.

Han Y et al.

Endocrine Connections, 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

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

Correction to: "Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With DICER1 Gene Variants".

Unknown Author

Jcem Case Reports, 2025

Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.

Whaley RD et al.

Endocrine Pathology, 2024

Presentation and Management of Highly Differentiated Follicular Carcinoma of Ovarian Origin With DICER1 Gene Variants.

Seav S et al.

Jcem Case Reports, 2024

The coexistence of a BRCA2 germline and a DICER1 somatic variant in two first-degree cousins suggests their potential synergic effect.

Del Baldo G et al.

Scientific Reports, 2024

DICER1 syndrome with an intronic germline variant causing splice alteration.

Inoue S et al.

Pediatric Blood & Cancer, 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

Teratoma-associated and so-called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features.

Kommoss FKF et al.

Histopathology, 2024

An integrative morpho-molecular approach in malignant ectomesenchymoma diagnosis: report of a new paediatric case and a review of the literature.

Pellegrino F et al.

Frontiers in Oncology, 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

DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility.

Pelletier D et al.

Nar Cancer, 2023

Targeting mutant dicer tumorigenesis in pleuropulmonary blastoma via inhibition of RNA polymerase I.

Wong MRE et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2023

DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.

Spinelli C et al.

Cancers, 2023

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Kommoss FKF et al.

Nature Communications, 2023

36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM6_ESM.xlsx › Tabelle1

DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.

Ricarte-Filho JC et al.

Frontiers in Endocrinology, 2023

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

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.

Golmard L et al.

Journal of Medical Genetics, 2022

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

Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung.

Li Y et al.

The American Journal of Surgical Pathology, 2021

Novel genetic characteristics in low-grade fetal adenocarcinoma of the lung.

Zhang S et al.

Thoracic Cancer, 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

Primary uterine ectomesenchymoma harboring a DICER1 mutation: case report with molecular analysis.

Davidson B et al.

Virchows Archiv : an International Journal of Pathology, 2021

Clinicopathologic and molecular analysis of embryonal rhabdomyosarcoma of the genitourinary tract: evidence for a distinct DICER1-associated subgroup.

Kommoss FKF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 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

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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."