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Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Sponsor: University of Washington
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.
Official title: Genetic Associations of Ocular Cancers
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2026-03-16
Completion Date
2031-01-01
Last Updated
2026-03-18
Healthy Volunteers
Yes
Conditions
Interventions
Targeted Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Locations (1)
University of Washington
Seattle, Washington, United States