Screening of<i>RB1</i>Alterations in Brazilian Patients With Retinoblastoma and Relatives With Retinoma: Phenotypic and Genotypic Associations

Abstract

Fifteen substitutions (4 intronic and 11 exonic) were identified as probably or likely pathogenic. Four of these 11 exonic substitutions were novel. Survival rates, however, were not affected by presence of these probably or likely pathogenic alterations, most of which not found in patients with retinoblastoma from other Latin American countries. These differences might be related to the different ethnic composition of the Latin American cohorts. Portuguese Abstract.