Genetics of Retinoblastoma | ||
| Middle East Journal of Medical Genetics | ||
| Volume 12, Issue 2, July 2023, Pages 1-16 PDF (544.09 K) | ||
| Document Type: Review Article | ||
| DOI: 10.21608/MXE.2024.377820 | ||
| Authors | ||
| Amal Mohamed* 1; Ola M Eid1; Alaa K Kamel1; Hanan H. Afifi2 | ||
| 1Human Cytogenetics Department, National Research Centre, Cairo, Egypt. | ||
| 2Clinical Genetics Department, National Research Centre, Cairo, Egypt. | ||
| Abstract | ||
| Background: Retinoblastoma (Rb) is the most common primary intraocular tumor in childhood. This review covers the causes, modes of inheritance, genetic testing, and recurrence risk of retinoblastoma, as well as disease management and the experience of the Centre of Excellence for Human Genetics at the National Research Centre in dealing with Rb. The incidence of Rb is approximately one in every 16,000-18,000 live births, affecting around 8,000 children worldwide each year. More than 80% of these cases are from low- and middle-income countries, with 50% of patients in Asia and 25% in Africa. The survival rate exceeds 95% in high-income countries, while the mortality rate can reach up to 70% in low-income countries. Rb can affect one or both eyes. In hereditary cases, there is a 50% chance of transmitting the affected allele to the next generation. The primary gene responsible for Rb is the retinoblastoma gene (RB1), located on chromosome 13q14. Most mutations causing Rb are within the RB1 gene, a tumor suppressor gene. Retinoblastoma requires mutations in both alleles (biallelic mutation) to develop into cancer. The RB1 gene product, retinoblastoma protein, plays several roles in retina development, cell division checkpoints, DNA replication, and apoptosis. In some cases, other genes such as MYCN and BCOR, as well as epigenetic factors, may contribute to Rb. Early diagnosis and appropriate treatment significantly improve survival rates. Recent advancements in molecular diagnosis have greatly impacted Rb management. This review aims to raise awareness about the disease, emphasizing the importance of early diagnosis and management to provide affected children and their families with better outcomes and the possibility of a complete cure. | ||
| Keywords | ||
| Hereditary; Mosaic cell line; RB1 gene; Retinoblastoma; Retinoblastoma protein; Tumor suppressor gene | ||
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