Aspekty genetyczne wybranych dziedzicznych nowotworów oka
Autorzy: Anna Wawrocka, Maciej R. Krawczyński.

Genetic Aspects of Selected Hereditary Eye Cancers

Wydanie 4/2020
str. 13-16

Autorzy: Anna Wawrocka1, Maciej R. Krawczyński1,2

1. Katedra i Zakład Genetyki Medycznej Uniwersytetu Medycznego im. Karola Marcinkowskiego w Poznaniu.
Kierownik: prof. dr hab. n. med. Anna Latos-Bieleńska .
2. Centra Genetyki Medycznej GENESIS w Poznaniu.


Hereditary cancer syndromes are responsible for approximately 5–10% of all cases of cancers. Majority of them are caused by germinal mutations
in tumor suppressor genes and are inherited in autosomal dominant mode, although the cellular mechanism of tumor development is recessive (s.c. loss of heterozygosity). In this work the main hereditary predispositions to eye tumors, such as hereditary forms of retinoblastoma, neurofibromatosis, tuberous sclerosis and von Hippel-Lindau disease, are depicted. The clinical diagnostic criteria are discussed and the role of RB1, NF1, NF2, TSC1, TSC2 and VHL genes, as well as the methods of their molecular diagnostics are described.

Keywords: hereditary cancers, ocular tumors, tumor suppressor genes.
Słowa kluczowe: nowotwory dziedziczne, nowotwory oka, geny supresorowe.