Retinoblastoma, Retinoblastoma Bilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma Unilateral
Conditions
Keywords
retinoblastoma, parent-of-origin
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.
Interventions
GENETICTargeted Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Sponsors
University of Washington
National Eye Institute (NEI)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Epigenomic and genomic profiling of the RB1 gene | 5 years | Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1 |
Countries
United States
Contacts
CONTACTDebarshi Mustafi, MD PhD
PRINCIPAL_INVESTIGATORDebarshi Mustafi, MD PhD
University of Washington
PRINCIPAL_INVESTIGATORAndrew W Stacey, MD
University of Washington
Outcome results
None listed