Genetic Associations of Ocular Cancers
Overview
- Phase
- Not Applicable
- Intervention
- Targeted Long-read sequencing
- Conditions
- Retinoblastoma Bilateral
- Sponsor
- University of Washington
- Enrollment
- 100
- Locations
- 1
- Primary Endpoint
- Epigenomic and genomic profiling of the RB1 gene
- Status
- Recruiting
- Last Updated
- last month
Overview
Brief 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.
Investigators
Debarshi Mustafi
Assistant Professor: School of Medicine, Ophthalmology
University of Washington
Eligibility Criteria
Inclusion Criteria
- •Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
- •Able to give consent/parent or guardian able to give consent.
Exclusion Criteria
- •Patients unable or unwilling to undertake consent or clinical testing.
- •Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
Arms & Interventions
Patients with presumed germline retinoblastoma due to RB1 mutation
Intervention: Targeted Long-read sequencing
Outcomes
Primary Outcomes
Epigenomic and genomic profiling of the RB1 gene
Time Frame: 5 years
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1