Article

Prevalence and Penetrance of Heritable Retinoblastoma in Two Adult Population Cohorts: Implications for genomic newborn screening

2025-12-17

Abstract excerpt

Retinoblastoma (Rb) is a rare childhood eye cancer. Almost half of cases are heritable, associated with germline RB1 pathogenic variants that pre-dispose to Rb and extraocular cancers. This study aimed to investigate the prevalence and penetrance of RB1 -heritable Rb in two adult population cohorts. We screened participants with whole genome sequencing in the UK Biobank (UKB) (n=490,413) and All of Us (AoU) (n=3...

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Literature Corpus work: 6931e042-998f-5f24-b6f2-91f89da03748
DOI: 10.64898/2025.12.16.25342350

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