Article
Novel RB1 germline mutation in a healthy man.
Ophthalmic genetics - 1 Aug 2022
Ramos-Dávila Eugenia M, Garza-Garza Lucas A, Villafuerte-de la Cruz Rocío, Aguilar-Y-Mendez Dione, Morales-Garza Héctor J, Garza-Leon Manuel, Ruiz-Lozano Raul E, Ancona-Lezama David
Abstract excerpt
BACKGROUND: Retinoblastoma (Rb) most frequently presents as a unilateral sporadic disease up to 40% of cases, however, arise from a monoallelic germline pathogenic variant. Only 10% of the germline mutations are inherited, and high penetrance is seen in up to 90% of these cases. As an effort to optimize counseling and screening, mutations are classified according to inheritance patterns. However, RB1 spectrum is...
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