Salviat F, Gauthier-Villars M, Carton M, et al. - Researchers conducted this single-center, retrospective cohort study to explore the connection between genotype and phenotype in patients with retinoblastoma (RB). The sample consisted of 1,404 consecutive ascertained patients (734 [52.3%] female; mean [SD] age, 20.2 [21.2] months) with RB who consulted an oncogeneticist. Germline pathogenic variants inducing the absence of RB protein were related to more severe disease compared with germline pathogenic variants maintaining RB protein. Female predominance among nongermline carriers was observed, and males were at greater risk of bilateral RB compared with females. Such findings indicate that the risk of RB is associated with the germline pathogenic variant and with the maintenance of RB protein, and that a sex-linked mechanism exists for nongermline carriers.