Genetic Associations of Ocular Cancers
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.
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
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.
Interventions
- GeneticTargeted Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Location
- University of WashingtonSeattle, Washington