Varaico: Literature-Extracted Genetic Variants

Gene:DICER1
Variant:p.E1813A
Back to variants list

DICER1

NM_177438.3:p.E1813A

Associated Papers

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

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

Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review.

Durden AA et al.

The Journal of Obstetrics and Gynaecology Research, 2024

Histone H3 trimethylation on lysine 27 immunostaining pattern in DICER1-associated tumors.

Alturkustani M et al.

Translational Pediatrics, 2024

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 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

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 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

Primary Intracranial Sarcoma, DICER1-Mutant Presenting as a Pineal Region Tumor Mimicking Pineoblastoma: Case Report and Review of the Literature.

Leelatian N et al.

Journal of Neuropathology and Experimental Neurology, 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

High Prevalence of Gene Fusions and Copy Number Alterations in Pediatric Radiation Therapy-Induced Papillary and Follicular Thyroid Carcinomas.

Hess JR et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

Phenotypic similarities within the morphologic spectrum of DICER1-associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting.

Roy P et al.

Pediatric Blood & Cancer, 2022

Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

Vibert R et al.

Clinical Chemistry, 2022

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.

Azzollini J et al.

Tumori, 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

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

Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

De Paolis E et al.

Journal of Clinical Medicine, 2021

A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.

Galka-Marciniak P et al.

Nucleic Acids Research, 2021

33406242 (PubMed )
Supplement: gkaa1223_supplemental_files.zip › GalkaMarciniak_Suppl_Table_S3.xlsx › Supplementare_TAble_S3

Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.

McCluggage WG et al.

Histopathology, 2020

Practical roles for molecular diagnostic testing in ovarian adult granulosa cell tumour, Sertoli-Leydig cell tumour, microcystic stromal tumour and their mimics.

Rabban JT et al.

Histopathology, 2020

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

de Kock L et al.

Human Mutation, 2019

Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant".

Sakaguchi M et al.

Brain Tumor Pathology, 2019

Germline DICER1-mutant intracranial sarcoma with dual chondroid and spindle cell morphology and pulmonary metastases treated with multimodal therapy.

Das A et al.

Pediatric Blood & Cancer, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Detection of the DICER1 hotspot mutation alongside immunohistochemical analysis may provide a better diagnostic measure for ovarian Sertoli-Leydig cell tumors.

Zhang X et al.

Pathology, Research and Practice, 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

DICER1 hotspot mutations in ovarian Sertoli-Leydig cell tumors: a potential association with androgenic effects.

Kato N et al.

Human Pathology, 2017

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

Sahm F et al.

Genes, Chromosomes & Cancer, 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 and FOXL2 mutations in ovarian sex cord-stromal tumours: a GINECO Group study.

Goulvent T et al.

Histopathology, 2016

A survey of DICER1 hotspot mutations in ovarian and testicular sex cord-stromal tumors.

Conlon N et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.

Stewart DR et al.

Human Genetics, 2014

Mutation analysis of DICER1 gene in hematologic tumors.

Lee SH et al.

Leukemia & Lymphoma, 2013

Biallelic DICER1 mutations occur in Wilms tumours.

Wu MK et al.

The Journal of Pathology, 2013

Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage.

Anglesio MS et al.

The Journal of Pathology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COBR

A forward genetic screen to study mammalian RNA interference: essential role of RNase IIIa domain of Dicer1 in 3' strand cleavage of dsRNA in vivo.

Ohishi K et al.

The Febs Journal, 2012

Homodimeric structure and double-stranded RNA cleavage activity of the C-terminal RNase III domain of human dicer.

Takeshita D et al.

Journal of Molecular Biology, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."