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Related Concept Videos

Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Jul 8, 2026

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
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Genetics of Retinoblastoma - An Update.

Adwaita Nag1, Vikas Khetan2

  • 1Vitreoretina & Ocular Oncology, Susrut Eye Foundation & Research Centre, Kolkata, West Bengal, India.

Seminars in Ophthalmology
|April 16, 2025
PubMed
Summary

Genetic and epigenetic changes drive retinoblastoma (RB) development. Understanding these alterations, including RB1 gene mutations, offers new precision therapy targets and improved treatment outcomes for this eye cancer.

Keywords:
Epigeneticsgeneticsoncogenesretinoblastomatumor suppressor gene

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Area of Science:

  • Oncology
  • Genetics
  • Epigenetics

Background:

  • Retinoblastoma (RB) is a pediatric eye cancer.
  • Tumorigenesis involves complex genetic and epigenetic alterations.

Purpose of the Study:

  • To provide an exhaustive overview of genetic and epigenetic changes in retinoblastoma (RB) tumorigenesis.
  • To explore the real-world applications of these genetic and epigenetic findings.

Main Methods:

  • Literature review using PubMed.
  • Keywords: retinoblastoma, genetics, epigenetics, oncogenes, tumor suppressor genes, target genes.

Main Results:

  • RB oncogenesis initiated by biallelic RB1 gene mutation.
  • Progression involves additional genetic mutations (nonsense, insertions/deletions, splice) and epigenetic events (microRNA dysregulation, differential methylation).
  • Identified potential target genes for precision therapy.

Conclusions:

  • Genetic testing, counseling, and risk stratification are crucial for RB management.
  • Recent genetic advancements promise new therapeutic strategies and improved outcomes for RB patients.