Wydanie 1/2017
str. 49 - 51

Genetyczne aspekty siatkówczaka

Genetic Aspects of Retinoblastoma

Krzysztof Morawski 1 , Justyna Jędrychowska-Jamborska 1 , Agnieszka Kubicka-Trząska1,2 , Bożena Romanowska-Dixon 1,2

1 Oddział Kliniczny Okulistyki i Onkologii Okulistycznej Szpitala Uniwersyteckiego w Krakowie
Kierownik: prof. dr hab. n. med. Bożena Romanowska-Dixon
2 Klinika Okulistyki i Onkologii Okulistycznej Katedry Okulistyki Uniwersytetu Jagiellońskiego Collegium Medicum w Krakowie
Kierownik: prof. dr hab. n med. Bożena Romanowska-Dixon

Summary: The tumor arises from cells that have lost their ability for self-testing of the process of growth and differentiation. RB1 gene located on chromosome 13q in band 14 consists of 27 exons, is known for its full DNA sequence and is the first cloned suppressor gene. RB1 gene encodes a pRB protein that plays an essential role in the regulation of the cell cycle by blocking the uncontrolled transition from G1 to S phase, the pRb protein thus acts as a brake on the cell cycle and mutations in the gene that encodes it results in the release of E2F transcription complex and divide uncontrollably. Damage to the RB1 gene may be of a somatic mutation in sporadic cases or germinal in the case of hereditary retinoblastoma. To prevent the development of cancer just one normal allele of the tumor suppressor gene RB1, and its development is necessary second mutation. Patients with hereditary retinoblastoma character who has a constitutional mutation in the RB1 gene present in every cell in the body are at risk for developing other secondary cancer. The main group of mutations leading to gene inactivation RB1 consist of deletions and nonsense mutations. Many studies indicate the origin of retinoblastoma cells of the newly formed post-mitotic cells of the retina.

Słowa kluczowe: siatkówczak, geny supresorowe, gen RB1.

Keywords: retinoblastoma, suppressor gene, RB1 gene.