Association Between Genotype and Phenotype in Consecutive Unrelated Individuals With Retinoblastoma.

ABSTRACT:

Importance

Retinoblastoma (RB) is the most common pediatric intraocular neoplasm. RB is a complex model in which atypical pathogenic variants, modifier genes, imprinting, and mosaicism are known to be associated with the phenotype. In-depth understanding of RB therefore requires large genotype-phenotype studies.

Objective

To assess the association between genotype and phenotype in patients with RB.

Design, setting, and participants

This single-center, retrospective cohort study, conducted from January 1, 2000, to September 30, 2017, enrolled 1404 consecutive ascertained patients with RB who consulted an oncogeneticist. All patients had their genotype and phenotype recorded. Statistical analysis was performed from July 1, 2018, to December 31, 2018.

Main outcomes an

SUBMITTER: Salviat F 

PROVIDER: S-EPMC7303903 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature