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Related Concept Videos

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

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,...

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Related Experiment Video

Updated: Jun 29, 2026

Reconstruct Human Retinoblastoma In Vitro
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Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Retinoblastoma in Great Britain 1963-2002.

A MacCarthy1, J M Birch, G J Draper

  • 1Childhood Cancer Research Group, University of Oxford, 57 Woodstock Road, Oxford OX2 6HJ, UK. angela.maccarthy@ccrg.ox.ac.uk

The British Journal of Ophthalmology
|October 8, 2008
PubMed
Summary

At least 41% of retinoblastoma cases are heritable, with bilateral cases often diagnosed earlier. Understanding genetic factors is crucial for diagnosis and genetic counseling in children with this eye cancer.

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Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
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Published on: August 4, 2011

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Last Updated: Jun 29, 2026

Reconstruct Human Retinoblastoma In Vitro
06:52

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
07:55

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice

Published on: August 4, 2011

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatric Oncology

Background:

  • Retinoblastoma is a pediatric eye cancer with both sporadic and heritable forms.
  • Family history and tumor laterality are key indicators of heritability.
  • Advances in molecular genetics impact diagnosis and genetic counseling.

Purpose of the Study:

  • To analyze the epidemiology and family history of 1601 children diagnosed with retinoblastoma in Great Britain between 1963 and 2002.
  • To summarize the implications of molecular genetics for the diagnosis and counseling of retinoblastoma.
  • To assess the heritability of retinoblastoma based on laterality and family history.

Main Methods:

  • Retinoblastoma cases (n=1601) diagnosed from 1963-2002 were reviewed.
  • Incidence rates were analyzed by diagnosis year and tumor laterality.
  • Cases were classified as heritable or non-heritable based on laterality and family history.

Main Results:

  • Of 1601 cases, 998 were unilateral, 581 bilateral, and 22 of unknown laterality.
  • Bilateral retinoblastoma cases were diagnosed at a younger age than unilateral cases.
  • At least 41% of cases were estimated as heritable (all bilateral, 7% of unilateral with family history); this is an underestimate due to incomplete family history data.

Conclusions:

  • A significant proportion of retinoblastoma cases are heritable, necessitating genetic evaluation.
  • Early diagnosis, particularly for unilateral cases under one year, shows an increasing incidence trend.
  • Molecular genetics advancements are vital for improving diagnostic accuracy and providing genetic counseling for retinoblastoma patients and families.