Genetics of Retinoblastoma for Patients and Their Families

  • Carol Lam Po Sang
  • Jaime Jessen
  • Hilary Racher
  • Brenda L. GallieEmail author


Good understanding of the genetics causing retinoblastoma improves outcomes for patients and families. Accurate and easily understood genetic counseling is important to help families embrace the opportunity of accurate care and surveillance. The 8th edition of the AJCC cancer staging for retinoblastoma includes heritability (H) and simplifies discussion and planning. This chapter describes the state-of-the-art scientific knowledge of the retinoblastoma tumor suppressor gene (RB1), the types of RB1 pathogenic variants that lead to retinoblastoma, and how to apply this knowledge to individual members of a family affected by retinoblastoma. A checklist is provided to assist genetic counselors and all in the circle of care to assure that each family member clearly understands the essential elements of retinoblastoma genetics in order to achieve optimal outcomes.


Retinoblastoma RB1 gene RB1 pathogenic variant RB1 variant of uncertain significance Retinoma Cancer staging Mosaicism Genetic counseling 


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Copyright information

© Springer Nature Singapore Pte Ltd. 2020

Authors and Affiliations

  • Carol Lam Po Sang
    • 1
    • 2
  • Jaime Jessen
    • 3
  • Hilary Racher
    • 3
  • Brenda L. Gallie
    • 4
    • 5
    • 6
    • 7
    • 8
    Email author
  1. 1.Hong Kong Eye HospitalHo Man TinHong Kong
  2. 2.Chinese University of Hong KongSha TinHong Kong
  3. 3.Impact GeneticsBowmanvilleCanada
  4. 4.Hospital for Sick ChildrenTorontoCanada
  5. 5.Techna Institute, University Health NetworkTorontoCanada
  6. 6.Department of OphthalmologyUniversity of TorontoTorontoCanada
  7. 7.Department of Medical BiophysicsUniversity of TorontoTorontoCanada
  8. 8.Department of Molecular GeneticsUniversity of TorontoTorontoCanada

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