Abstract

Cancer is ninth among the leading causes of mortality for children in India between the ages of five and fourteen. Retinoblastoma (RB), an intraocular childhood cancer that affects 1 in 15,000 live births in India, accounts for 3% of all childhood cancer cases. In India, the majority of patients arrive at a later stage of their illness, leaving them with little alternatives for saving their lives and vision. Numerous lives and visions may be saved if the genetics of the RB were understood. In RB, autosomal dominant inheritance with varying penetrance was noted. Individuals who are heterozygous carriers of a germline mutation and have a favorable family history (6–10%) are more likely to develop melanomas, osteosarcoma, and soft tissue sarcoma in the future. Germline mutations might account for around 15% of unilateral patient’s varied penetrance of RB. RB1 gene, which is 180 kb long and has 27 exons, is the cause of RB. It was originally cloned and discovered to be a tumor suppressor gene in humans and situated on chromosome 13q14. There have been few reports of certain variants having varied penetrance and expressivity, despite the fact that the majority of patients with RB1 mutations have significant penetrance with clinical symptoms. Understanding the carcinogenesis and variability in the illness phenotype requires studying the transcript of RB1 and other tumor-related genes. The genetic and transcriptional research might be enhanced by epigenetic investigations of RB1 and associated genes.

Key words: Retinoblastoma; RB1 gene; paediatric cancer; genetic modifications; mutation