Genetyka siatkówczaka w praktyce klinicznej - przegląd nowych zagadnień
Retinoblastoma Genetics in Clinical Practice - New Data and Informations
Zakład Genetyki i Patomorfologii Pomorskiej Akademii Medycznej w Szczecinie Kierownik: prof. dr hab. n. med. Jan Lubiński
Summary: In the paper new data about retinoblastoma genetics are discussed. Better knowledge of their molecular nature is important for family diagnosis and counseling improvement; it is also significant factor lowering the cost and shortening the time of family diagnosis. The molecular testing of RB1 gene in search for constitutional mutations led to the detection of ~900 mutations. This testing showed, that great part of them completely inactivate one copy of the gene. Near 40% of the observed mutations are preferentially localized in some hot spots. Part of the constitutional mutations may be germinal de novo, or germ-line mosaic; they are observed in “false - sporadic” cases. Some type of mutations (“low penetrant”) acts by diminishing the gene activity only; pedigrees of those families may differ from typically observed and familial counseling in such families may be difficult.
Keywords: gretinoblastoma, inheritance, mutations screening, low-penetrance mutations, mosaicism, familial diagnosis and counselling.