Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Genetic Associations of Ocular Cancers
University of Washington
100 participants
Mar 16, 2026
OBSERVATIONAL
Conditions
Summary
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Eligibility
Plain Language Summary
Simplified for easier understanding
This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.
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Interventions
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Locations(1)
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NCT06725173