Associated Papers
Multi-center multi-omics integration predicts individualized prognosis in medullary thyroid carcinoma.
Zhou Y et al.
Nature Communications, 2026
Sporadic medullary thyroid carcinoma with a rare RET transmembrane domain mutation (A641R) that responds to selpercatinib.
Fukuda N et al.
The Oncologist, 2025
Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.
Srivastava A et al.
European Journal of Endocrinology, 2025
Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.
Frank-Raue K et al.
Recent Results in Cancer Research. Fortschritte Der Krebsforschung. Progres Dans Les Recherches Sur Le Cancer, 2025
A novel patient-derived cutaneous melanoma cell line reveals key features of metastatic melanoma.
Tomás A et al.
Frontiers in Oncology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
Multiple endocrine neoplasia type 2: towards a risk-based approach integrating molecular and biomarker results.
Machens A et al.
Current Opinion in Oncology, 2024
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
Alonso-Luna O et al.
Molecular Genetics & Genomic Medicine, 2024
Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova M et al.
Frontiers in Oncology, 2024
Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.
Wallen ZD et al.
Frontiers in Oncology, 2024
Novel, clinically relevant genomic patterns identified by comprehensive genomic profiling in ATRX-deficient IDH-wildtype adult high-grade gliomas.
Bedics G et al.
Scientific Reports, 2023
Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.
Zhunussova G et al.
Oncotarget, 2023
RET-Altered Cancers-A Tumor-Agnostic Review of Biology, Diagnosis and Targeted Therapy Activity.
Desilets A et al.
Cancers, 2023
Looking for RET alterations in thyroid cancer: clinical relevance, methodology and timing.
Elisei R et al.
Endocrine, 2023
Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.
Kommoss FKF et al.
Nature Communications, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database.
Margraf RL et al.
Human Mutation, 2022
Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.
Tabata J et al.
Cancer Research, 2022
Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.
Tarawneh TS et al.
Cancers, 2022
An integrative pan cancer analysis of RET aberrations and their potential clinical implications.
Zhou L et al.
Scientific Reports, 2022
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
Next-Generation Sequencing in Lung Cancer Patients: A Comparative Approach in NSCLC and SCLC Mutational Landscapes.
Pop-Bica C et al.
Journal of Personalized Medicine, 2022
Distribution of RET proto-oncogene variants in children with appendicitis.
Schultz J et al.
Molecular Genetics & Genomic Medicine, 2022
Precision cancer genome testing needs proficiency testing involving all stakeholders.
Maekawa M et al.
Scientific Reports, 2022
Circulating Cell-Free DNA-Based Comprehensive Molecular Analysis of Biliary Tract Cancers Using Next-Generation Sequencing.
Csoma SL et al.
Cancers, 2022
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
Targeted Quantification of Carbon Metabolites Identifies Metabolic Progression Markers and an Undiagnosed Case of SDH-Deficient Clear Cell Renal Cell Carcinoma in a German Cohort.
William D et al.
Metabolites, 2021
Clinicopathological and molecular characteristics of endometrial neuroendocrine carcinomas reveal preexisting endometrial carcinoma origin.
Ono K et al.
Pathology International, 2021
Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.
Milićević S et al.
Croatian Medical Journal, 2021
Germline RET variants underlie a subset of paediatric osteosarcoma.
Kovac M et al.
Journal of Medical Genetics, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.
Yalcintepe S et al.
Journal of Kidney Cancer and Vhl, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
A Novel Germline c.1267T>A MEN1 Mutation in MEN1 Family-from Phenotype to Gene and Back.
Gierlikowski W et al.
Genes, 2020
Results and Clinical Interpretation of Germline RET Analysis in a Series of Patients with Medullary Thyroid Carcinoma: The Challenge of the Variants of Uncertain Significance.
Innella G et al.
Cancers, 2020
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.
Tedaldi G et al.
Cancers, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Long-term outcome after DNA-based prophylactic neck surgery in children at risk of hereditary medullary thyroid cancer.
Machens A et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
Mutational load in carotid body tumor.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2019
Metabolomics signatures of a subset of RET variants according to their oncogenic risk level.
Veyrat-Durebex C et al.
Endocrine-related Cancer, 2019
Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.
Buckingham L et al.
Hereditary Cancer in Clinical Practice, 2019
Dual MAPK Inhibition Is an Effective Therapeutic Strategy for a Subset of Class II BRAF Mutant Melanomas.
Dankner M et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
[Familial medullary thyroid carcinoma: case report and literature review.]
Barletta Carrillo CF et al.
Revista De La Facultad De Ciencias Medicas (cordoba, Argentina), 2018
Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.
Clark TA et al.
The Journal of Molecular Diagnostics : Jmd, 2018