Study of Genetic Changes in Patients with Retinoblastoma and Related Cancers Using Targeted Long-Read Sequencing to Understand RB1 Gene Mutations

What this Trial Is About

Researchers are studying patients with ocular cancers and secondary cancers linked to mutations in the RB1 gene. This observational study aims to gain a detailed understanding of how genetic changes in RB1 relate to the development and spread of these cancers. By exploring the relationship between genetic information and disease traits, the study seeks to provide valuable insights into this cancer syndrome. All participants will undergo targeted long-read sequencing to analyze the genetic and epigenetic features of the RB1 gene. This advanced genetic testing helps to identify and understand the specific mutations involved. The study focuses on patients who have retinoblastoma caused by RB1 mutations or who show typical signs of retinoblastoma while awaiting genetic confirmation. Participants will provide consent and donate saliva or blood samples for genetic analysis. Researchers will perform detailed genetic and epigenetic profiling over a five-year period to understand the RB1 genes role in these cancers. The study includes patients with various forms of retinoblastoma, including bilateral, unilateral, extraocular, and recurrent types, and involves no treatment interventions. Participants involvement includes genetic testing and follow-up for outcome measurements.

Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.