Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1813G
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DICER1

NM_177438.3:p.E1813G

Associated Papers

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

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Thyroblastoma as a manifestation of DICER1 syndrome with confirmed germline mutation and comprehensive literature review.

Yin L et al.

Virchows Archiv : an International Journal of 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

Mutation-tissue specificity in DICER1 syndrome: insights from familial pleuropulmonary blastoma and a pan-tumour hotspot analysis.

Yang G et al.

Pathology, 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 Primary CNS Sarcoma of the Spinal Cord with DICER1 Mutation: Expanding the Spectrum of DICER1-Driven CNS Sarcomas.

Pasarikovski CR et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025

DICER1 and DGCR8 in thyroid tumorigenesis: miRNA biogenesis and histopathologic diversity.

Rodrigues L et al.

European Thyroid Journal, 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

DICER1 hotspot mutation induces 3p microRNA gain of function via Argonaute strand switch.

Malagobadan S et al.

Nature Structural & Molecular Biology, 2025

41188596 (PubMed )
Supplement: 41594_2025_1671_MOESM2_ESM.pdf

Primary Intracranial Sarcoma, DICER1-Mutant, Diagnosed by DNA Methylation Profiling in an Adult Patient with Germline DICER1 Mutation: A Case Report.

Koleják R et al.

International Journal of Surgical Pathology, 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

Molecular Characterization and Phenotype-Genotype Correlation of Childhood Thyroid Nodules and Cancers: A Study of 62 Patients.

Aycan Z et al.

Hormone Research in Paediatrics, 2025

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1 -Associated Entity, a Case Report and Literature Review.

Razack R et al.

Diagnostic Cytopathology, 2025

Ciliary Body Medulloepithelioma: Clinical and Pathologic Challenges with a Focus on Molecular Genetics.

August AH et al.

Seminars in Ophthalmology, 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.

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

Stratified Medicine Pediatrics: Cell-Free DNA and Serial Tumor Sequencing Identifies Subtype-Specific Cancer Evolution and Epigenetic States.

George SL et al.

Cancer Discovery, 2025

39693475 (PubMed )
Supplement: cd-24-0916_supplementary_table_2_suppst2.xlsx › Sheet1

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

Alternative driver pathways in peripheral nerve sheath tumors - including DICER1 and/or KRAS alterations.

Chang HY et al.

The Journal of Pathology, 2025

DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.

Sergi CM et al.

Biology, 2025

Primary intracranial sarcoma associated with DICER1 mutant: a case report and preclinical investigation.

Honma H et al.

Brain Tumor Pathology, 2025

Diagnosis and treatment of thyroblastoma: a case report and review of literature.

Chen X et al.

Frontiers in Oncology, 2025

Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.

Küçükosmanoglu A et al.

Molecular Oncology, 2024

38757376 (PubMed )
Supplement: MOL2-18-2407-s001.xlsx › 1E_Excluded_datasets

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

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

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

38898688 (PubMed )
Supplement: CAM4-13-e7340-s001.docx

Pathogenic Somatic Mutation of DICER1 and Clinicopathological Features in Nasal Chondromesenchymal Hamartomas: A Series of Nine Cases.

Hu C et al.

The American Journal of Surgical Pathology, 2024

A rare case of an adult primary intracranial sarcoma associated with a DICER1 mutation.

Robinson LJ et al.

Journal of Neuropathology and Experimental Neurology, 2024

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B et al.

The Lancet Regional Health. Europe, 2024

38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_4

Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution.

Yang B et al.

The American Journal of Surgical Pathology, 2024

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › COG

DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.

Lethongsavarn V et al.

Genes, Chromosomes & Cancer, 2023

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

Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.

Fraire CR et al.

Jco Precision Oncology, 2023

Cervical Pleuropulmonary Blastoma-like Tumor Associated With DICER1 and TP53 Mutations.

Stolnicu S et al.

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

A Rare Adult Primary Intracranial Sarcoma, DICER1-Mutant Identified by Epigenomic Profiling: A Case Report.

Marinelli A et al.

Brain Sciences, 2023

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

Evolution of intra-tumoral heterogeneity across different pathological stages in papillary thyroid carcinoma.

Affinito O et al.

Cancer Cell International, 2022

35996174 (PubMed )
Supplement: 12935_2022_2680_MOESM5_ESM.xlsx › Stage1

An Unusual Enteric Yolk Sac Tumor: First Report of an Ovarian Germ Cell Tumor Associated With a Germline Pathogenic Variant in DICER1.

McCluggage WG et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features: a novel clinicopathologic diagnosis.

Mitchell SG et al.

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

Expanding the clinical and molecular spectrum of pituitary blastoma.

Liu AP et al.

Acta Neuropathologica, 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

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

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

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