Associated Papers
Molecular characterization of clear cell adenocarcinoma of the urinary bladder.
Jha S et al.
Histopathology, 2026
Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.
Colin-Leitzinger C et al.
Human Genomics, 2025
Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.
Da Cruz Paula A et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.
Esai Selvan M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.
Nedjadi T et al.
Scientific Reports, 2025
Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.
Hiitola E et al.
Science Advances, 2025
Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.
Colin-Leitzinger C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.
Cheo SW et al.
Esmo Open, 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
Comprehensive analysis of clinical phenotype and genetic characteristics of retinoblastoma caused by RB1 gene mutation: a case series.
Fu Z et al.
American Journal of Cancer Research, 2025
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 2024
Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.
Hu B et al.
Journal of Pediatric Hematology/oncology, 2024
Genomic alteration discordance in the paired primary-recurrent ovarian cancers: based on the comprehensive genomic profiling (CGP) analysis.
Dong J et al.
Journal of Ovarian Research, 2024
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Germline HPF1 retrogene insertion in RB1 gene involved in cancer predisposition.
Le Gall J et al.
Journal of Medical Genetics, 2023
TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.
Zhou Y et al.
Journal of Translational Medicine, 2023
The Use of rAAV2-RB1-Mediated Gene Therapy in Retinoblastoma.
Shi H et al.
Investigative Ophthalmology & Visual Science, 2023
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
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
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies.
Aktas T et al.
Frontiers in Bioscience (landmark Edition), 2023
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.
Schraml P et al.
The Journal of Pathology. Clinical Research, 2023
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 2023
Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants.
Vural Ö et al.
International Journal of Ophthalmology, 2023
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma.
Li L et al.
International Ophthalmology, 2022
Implementation of computational approaches to explore the deleterious effects of non-synonymous SNPs on pRB protein.
Rahaman MM et al.
Journal of Biomolecular Structure & Dynamics, 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
Characterization of somatic mutations and pathway alterations during hepatocellular carcinoma vascular invasion using next-generation sequencing.
Li Q et al.
Journal of Gastrointestinal Oncology, 2022
Neuroendocrine transformation from EGFR/ALK-wild type or TKI-naïve non-small cell lung cancer: An under-recognized phenomenon.
Chu X et al.
Lung Cancer (amsterdam, Netherlands), 2022
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero A et al.
International Journal of Clinical Oncology, 2022
Identification of novel RB1 genetic variants in Retinoblastoma patients and their impact on clinical outcome.
Manukonda R et al.
Ophthalmic Genetics, 2022
Genomic And Tumor Microenvironment Differences Between Cell Cycle Progression Pathway Altered/Non-Altered Patients With Lung Adenocarcinoma.
Shan G et al.
Frontiers in Oncology, 2022
Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.
Zhang Y et al.
Cell Reports, 2021
Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma.
Alekseeva EA et al.
Cancers, 2021
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.
Hoang CQ et al.
Molecular and Clinical Oncology, 2021
Multiple malignant tumors in a patient with familial chordoma, a case report.
Sumransub N et al.
Bmc Medical Genomics, 2021
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.
Wong EY et al.
Npj Precision Oncology, 2021
Retinoblastoma genetics screening and clinical management.
Gupta H et al.
Bmc Medical Genomics, 2021