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
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.
Nelson AT et al.
Thorax, 2024
DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility.
Pelletier D et al.
Nar Cancer, 2023
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN et al.
Human Mutation, 2023
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
Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).
Diquigiovanni C et al.
Cancers, 2021
Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.
De Paolis E et al.
Journal of Clinical Medicine, 2021
Predominant DICER1 Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.
Lee YA et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.
McCluggage WG et al.
Histopathology, 2020
A Germline CHEK2 Mutation in a Family with Papillary Thyroid Cancer.
Zhao Y et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.
Hińcza K et al.
Genes, 2019
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
DICER1 Syndrome: DICER1 Mutations in Rare Cancers.
Robertson JC et al.
Cancers, 2018
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
Functional characterization of multiple DICER1 mutations in an adolescent.
Wu MK et al.
Endocrine-related Cancer, 2016
High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.
de Kock L et al.
Journal of Medical Genetics, 2016
DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association.
Rutter MM et al.
The Journal of Clinical Endocrinology and Metabolism, 2016