Genetics of Retinoblastoma for Patients and Their Families

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.