Genetic Associations of Ocular Cancers
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Epigenomic and genomic profiling of the RB1 gene
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Patients with presumed germline retinoblastoma due to RB1 mutation
干预措施: Targeted Long-read sequencing (Genetic)
结局指标
主要结局
Epigenomic and genomic profiling of the RB1 gene
时间窗: 5 years
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
次要结局
未报告次要终点
研究者
Debarshi Mustafi
Assistant Professor: School of Medicine, Ophthalmology
University of Washington