TY - JOUR
T1 - Novel RB1 germline mutation in a healthy man
AU - Ramos-Dávila, Eugenia M.
AU - Garza-Garza, Lucas A.
AU - Cruz, Rocío Villafuerte-de la
AU - Aguilar-Y-Mendez, Dione
AU - Morales-Garza, Héctor J.
AU - Garza-Leon, Manuel
AU - Ruiz-Lozano, Raul E.
AU - Ancona-Lezama, David
PY - 2022/4/11
Y1 - 2022/4/11
N2 - 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.
AB - 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.
UR - https://doi.org/10.1080/13816810.2022.2062390
U2 - 10.1080/13816810.2022.2062390
DO - 10.1080/13816810.2022.2062390
M3 - Article
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
ER -