Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma. Cancers. 2021, № 13, P.5068.-72. https://doi.org/10.3390/cancers13205068

Alekseeva, E.A.; Babenko, O.V.; Kozlova, V.M.; Ushakova, T.L.; Kazubskaya, T.P.; Nemtsova, M.V.; Chesnokova, G.G.; Mikhaylenko, D.S.; Bure, I.V.; Kalinkin, A.I.; Kuznetsova, E.B.; Tanas, A.S.; Kutsev, S.I.; Zaletaev, D.V.; Strelnikov, V.V.

Авторы: Alekseeva E.A., Babenko O.V., Kozlova V.M., Ushakova T.L., Kazubskaya T.P., Nemtsova M.V., Chesnokova G.G., Mikhaylenko D.S., Bure I.V., Kalinkin A.I., Kuznetsova E.B., Tanas A.S., Kutsev S.I., Zaletaev D.V., Strelnikov V.V.
Журнал: Cancers
Том: 13
Номер: 5068
Год издания: 2021
Издательство: MDPI
Местоположение издательства: Basel, Switzerland
Первая страница: 1
Последняя страница: 14
Аннотация: Abstract: Our aim was to identify RB1 alterations causing hereditary low penetrance retinoblastoma and to evaluate how the parental origin of an RB1 mutation affects its phenotypic expression. By NGS and MLPA, RB1 mutations were found in 191 from 332 unrelated retinoblastoma patients. Among patients with identified RB1 mutations but without clinical family history of retinoblastoma, 7% (12/175) were found to have hereditary disease with one of the parents being an asymptomatic carrier of an RB1 mutation. Additionally, in two families with retinoblastoma history, mutations were inherited by probands from unaffected parents. Overall, nine probands inherited RB1 mutations from clinically unaffected fathers and five, from mothers. Yet, we gained explanations of maternal “unaffectedness” in most cases, either as somatic mosaicism or as clinical presentation of retinomasin involution, rendering the proportion of paternal to maternal truly asymptomatic mutation carriers as 9:1 (p = 0.005). This observation supports an assumption that parental origin of an RB1 mutation influences the likelihood of developing retinoblastoma. Additionally, our study revealed a relatively high frequency of asymptomatic carriage of the RB1 mutations among the parents of retinoblastomapatients, highlighting the utmost necessity of molecular analysis among the probands’ relatives irrespective of their clinical status and family history of retinoblastoma. Keywords: hereditary retinoblastoma; RB1; penetrance; expressivity; parental origin; low penetrance mutation; NGS
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Parental Origin of the RB1 Gene Mutations in Families with Low Penetrance Hereditary Retinoblastoma. Cancers. 2021, № 13, P.5068.-72. https://doi.org/10.3390/cancers13205068статья