Associated Papers
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Tumor microenvironment-preserving gliosarcoma organoids as an in vitro preclinical platform: a comparative analysis with glioblastoma models.
Park J et al.
Journal of Translational Medicine, 2025
Establishment and rescue of fibroblast cell lines carrying a nonsense mutation of RB1 by CRISPR-based base editing.
Jung Y et al.
Scientific Reports, 2025
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
Comprehensive germline and somatic profiling of high-risk Thai breast cancer via next-generation sequencing.
Kamdee K et al.
Scientific Reports, 2025
MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.
Kaczorowski M et al.
The Journal of Pathology. Clinical Research, 2025
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Gomez-Mariano G et al.
Experimental Eye Research, 2025
The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.
Nguyen DD et al.
Nature, 2024
Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.
Meel R et al.
Indian Journal of Ophthalmology, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
NGS detection of gene rearrangements and METexon14 mutations in liquid biopsy of advanced NSCLC patients: A study of two Italian centers.
Verzè M et al.
The Journal of Liquid Biopsy, 2024
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 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
Clinical utility of Next Generation Sequencing of plasma cell-free DNA for the molecular profiling of patients with NSCLC at diagnosis and disease progression.
Del Re M et al.
Translational Oncology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma.
Yousef YA et al.
Frontiers in Medicine, 2024
Mutation spectrum of retinoblastoma patients in Vietnam.
Linh DNH et al.
Molecular Genetics & Genomic Medicine, 2023
Genetics in ophthalmology: molecular blueprints of retinoblastoma.
Marković L et al.
Human Genomics, 2023
Non-synonymous, synonymous, and non-coding nucleotide variants contribute to recurrently altered biological processes during retinoblastoma progression.
Stachelek K et al.
Genes, Chromosomes & Cancer, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients.
Zhang Y et al.
Ophthalmic Genetics, 2022
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies.
Sahoo SS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality.
Rojanaporn D et al.
Translational Vision Science & Technology, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Endometrial Carcinoma: Molecular Cytogenetics and Transcriptomic Profile.
Brunetti M et al.
Cancers, 2022
Characterization of the Portuguese population diagnosed with retinoblastoma.
Castela G et al.
Scientific Reports, 2022
Targeting Oncogenic Pathways in the Era of Personalized Oncology: A Systemic Analysis Reveals Highly Mutated Signaling Pathways in Cancer Patients and Potential Therapeutic Targets.
Karagiannakos A 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
Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.
Alekseeva EA et al.
Cancers, 2021
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.
Liu J et al.
Nature Communications, 2021
Retinoblastoma from human stem cell-derived retinal organoids.
Norrie JL et al.
Nature Communications, 2021
Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib.
Fujii Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2021
Breast cancer and DDT: putative interactions, associated gene alterations, and molecular pathways.
Jayaseelan VP et al.
Environmental Science and Pollution Research International, 2021
Distinct mutational backgrounds and clonal architectures implicated prognostic discrepancies in small-cell carcinomas of the esophagus and lung.
Song Z et al.
Cell Death & Disease, 2021
Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.
Hoefflin R et al.
Cancers, 2021
Molecular Changes in Retinoblastoma beyond RB1: Findings from Next-Generation Sequencing.
Francis JH et al.
Cancers, 2021
Spectrum of germline mutations in RB1 in Chinese patients with retinoblastoma: Application of targeted next-generation sequencing.
Zou Y et al.
Molecular Vision, 2021
Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.
Yuan T et al.
Frontiers in Oncology, 2021
The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.
Xie Y et al.
Risk Management and Healthcare Policy, 2021