Novel RB1 germline mutation in a healthy man

Eugenia M. Ramos-Dávila, Lucas A. Garza-Garza, Rocío Villafuerte-de la Cruz, Dione Aguilar-Y-Mendez, Héctor J. Morales-Garza, Manuel Garza-Leon, Raul E. Ruiz-Lozano, David Ancona-Lezama

Resultado de la investigaciónrevisión exhaustiva

Resumen

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 highly heterogeneous, and information for unaffected carriers remains scarce.
Idioma originalEnglish
PublicaciónOphthalmic Genetics
DOI
EstadoPublished - 11 abr. 2022

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