Associated Papers
Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.
Kagami LAT et al.
Npj Precision Oncology, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
[Retinoblastoma in Argentina: study of germline variants of the RB1 gene].
Ducatelli ME et al.
Medicina, 2026
Mapping RB1 gene mutations in retinoblastoma: a study of 200 cases from North India.
Ratna R et al.
Ophthalmic Genetics, 2025
Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.
Abujamous L et al.
The Oncologist, 2025
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
Gao C et al.
Jama Ophthalmology, 2025
Pancreatic adenocarcinoma in a patient with a germline RB1 pathogenic variant.
Patel R et al.
Familial Cancer, 2025
Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study.
Faranoush M et al.
Cancer Medicine, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 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
Impact of RB1 gene screening from blood collected on a single day from 411 family members of 113 Retinoblastoma survivors in India.
Vanniarajan A et al.
Eye (london, England), 2024
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort.
Gerrish A et al.
Cancers, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 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
Diffuse Infiltrating Retinoblastoma with Anterior Chamber Involvement: Conservative Management and Identification of RB1 Alterations in Aqueous Humor.
Cassoux N et al.
Ocular Oncology and Pathology, 2023
Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.
Bang S et al.
Cancers, 2023
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 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
Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.
Kim YS et al.
Experimental Dermatology, 2023
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients.
Zhang Y et al.
Ophthalmic Genetics, 2022
Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.
Wu H et al.
Cancer Communications (london, England), 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
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences.
Serio PAMP et al.
Cells, 2021
Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.
Wang P et al.
Signal Transduction and Targeted Therapy, 2021
Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma.
Hoang CQ et al.
Molecular and Clinical Oncology, 2021
Comparison of Resistance Spectra after First and Second Line Osimertinib Treatment Detected by Liquid Biopsy.
Jóri B et al.
Cancers, 2021
Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.
Barakeh DH et al.
Oncotarget, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 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
Retinoblastoma in a child with tuberous sclerosis complex.
Zhang C et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2020
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Scholl SM et al.
Ebiomedicine, 2020
Phase and context shape the function of composite oncogenic mutations.
Gorelick AN et al.
Nature, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma.
Lan X et al.
Frontiers in Genetics, 2020
Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.
Su D et al.
Nature Communications, 2019
Altered Rb, p16, and p53 expression is specific for porocarcinoma relative to poroma.
Zahn J et al.
Journal of Cutaneous Pathology, 2019
Retinoblastoma mutation predicts poor outcomes in advanced non small cell lung cancer.
Bhateja P et al.
Cancer Medicine, 2019
Analysis of error profiles in deep next-generation sequencing data.
Ma X et al.
Genome Biology, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019