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Genetics of Retinoblastoma for Patients and Their Families

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Intraocular Tumors

Abstract

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.

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Author information

Authors and Affiliations

  1. Hong Kong Eye Hospital, Ho Man Tin, Hong Kong

    Carol Lam Po Sang

  2. Chinese University of Hong Kong, Sha Tin, Hong Kong

    Carol Lam Po Sang

  3. Impact Genetics, Bowmanville, ON, Canada

    Jaime Jessen & Hilary Racher

  4. Hospital for Sick Children, Toronto, ON, Canada

    Brenda L. Gallie

  5. Techna Institute, University Health Network, Toronto, ON, Canada

    Brenda L. Gallie

  6. Department of Ophthalmology, University of Toronto, Toronto, ON, Canada

    Brenda L. Gallie

  7. Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada

    Brenda L. Gallie

  8. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

    Brenda L. Gallie

Authors
  1. Carol Lam Po Sang
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  2. Jaime Jessen
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  3. Hilary Racher
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  4. Brenda L. Gallie
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Corresponding author

Correspondence to Brenda L. Gallie .

Editor information

Editors and Affiliations

  1. Sankara Nethralaya, Chennai, Tamil Nadu, India

    Vikas Khetan

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Sang, C.L.P., Jessen, J., Racher, H., Gallie, B.L. (2020). Genetics of Retinoblastoma for Patients and Their Families. In: Khetan, V. (eds) Intraocular Tumors. Springer, Singapore. https://doi.org/10.1007/978-981-15-0395-5_2

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  • DOI: https://doi.org/10.1007/978-981-15-0395-5_2

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-15-0394-8

  • Online ISBN: 978-981-15-0395-5

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