Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.D1709N
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DICER1

NM_177438.3:p.D1709N

Associated Papers

A case of ovarian Sertoli-Leydig cell tumor with high grade transformation harbouring DICER1 and TP53 mutations.

Němejcová K et al.

Virchows Archiv : an International Journal of Pathology, 2026

[Sertoli-leydig cell tumor of the ovary with rare DICER1 mutation locus: report of a case].

Xu C et al.

Zhonghua Bing Li Xue Za Zhi = Chinese Journal of 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

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

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

STK11 mutations and deletions define a distinct subtype of cervical adenocarcinoma.

Robinson E et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Adult Patient with Primary Intracranial Sarcoma DICER1 Mutated: Therapy Leading to Prolonged Survival and Local Control.

Toma C et al.

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

YAP1::MAML2 fusion, a newly identified genetic anomaly in a posterior fossa infant tumor, associated with the methylation class "embryonal tumor with multilayered rosettes, non-C19MC-altered" in the Heidelberg central nervous system tumor classifier and "embryonal tumor with multilayered rosettes-DICER" in the NIH classifier.

Godfraind C et al.

Acta Neuropathologica Communications, 2025

Diagnosing Thyroid Lesions Through A Morphology-Molecular Lens: Four Case-Based Lessons From 22nd International Congress of Cytology-Florence 2025.

Canberk S et al.

Diagnostic Cytopathology, 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

Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.

Liu L et al.

Medcomm, 2025

41346570 (PubMed )
Supplement: MCO2-6-e70483-s002.xlsx › Tumour_cellularity

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

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

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

Embryonal tumor with multilayered rosettes, DICER1-mutated, showing histologically unique neuronal differentiation after chemoradiotherapy.

Yamazaki A et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

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

August AH et al.

Seminars in Ophthalmology, 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.

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 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

Pathological and clinical insights into DICER1 hotspot mutated Sertoli-Leydig cell tumors: a comparative analysis.

Lyu Z et al.

Diagnostic Pathology, 2025

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

DICER1 associated cervical embryonal rhabdomyosarcoma in a 59-year-old woman.

Alfaraidi M et al.

Gynecologic Oncology Reports, 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

Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.

Huang J et al.

Frontiers in Immunology, 2025

39931062 (PubMed )
Supplement: Table1.xlsx › Sheet1

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

Chen X et al.

Frontiers in Oncology, 2025

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

40160862 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Anaplastic Sarcoma of the Kidney in a Child with DICER1 Syndrome: A Case Report.

Nagasaki-Maeoka E et al.

Surgical Case Reports, 2025

DICER1 Mutations Define the Landscape of Poorly Differentiated Thyroid Carcinoma in Children and Young Adults : Case Report and Literature Review.

Ver Berne J et al.

The American Journal of Surgical Pathology, 2024

DICER1-sarcomas of GYN tract: Expanding on an emerging entity.

Dashti NK et al.

Human Pathology, 2024

DICER1 Variants in Pediatric and Young Adult Thyroid Nodules.

Mastnikova K et al.

Thyroid : Official Journal of the American Thyroid Association, 2024

Liver-specific DICER1 syndrome model mice develop cystic liver tumors with defective primary cilia.

Oikawa K et al.

The 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

Extraskeletal chondroma of the toe in a child with DICER1 tumor predisposition syndrome: support for a dominant negative mechanism.

Pelletier D 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

Non-C19MC-altered embryonal tumor with multilayered rosettes in a young woman with DICER1 syndrome: case report and review of the literature.

Campos Mármol MC et al.

Pathologica, 2024

RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.

Windrich J et al.

American Journal of Respiratory and Critical Care Medicine, 2024

Sertoli-Leydig cell tumor with DICER1 mutation.

Jansen SN et al.

Gynecologic Oncology Reports, 2024

Testicular Neoplasms With Sex Cord and Stromal Components Harbor a Recurrent Pattern of Chromosomal Gains.

Acosta AM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

Genomic landscape and tumor mutational features of resected preinvasive to invasive lung adenocarcinoma.

Lin Y et al.

Frontiers in Oncology, 2024

38803537 (PubMed )
Supplement: Table_1.xlsx › Table_S4

DICER1-mutated rhabdomyosarcoma of the ovary with teratoid features.

Lethongsavarn V et al.

Genes, Chromosomes & Cancer, 2023

Biallelic Dicer1 Mutations in the Gynecologic Tract of Mice Drive Lineage-Specific Development of DICER1 Syndrome-Associated Cancer.

Wang Y et al.

Cancer Research, 2023

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis.

Apellaniz-Ruiz M et al.

Familial Cancer, 2023

A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors.

Marques Da Costa ME et al.

Communications Biology, 2023

37723198 (PubMed )
Supplement: 42003_2023_5320_MOESM4_ESM.xlsx › Suppl._Data_1

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

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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."