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Approximately 10–15% of pediatric malignancies can be attributed to an underlying cancer predisposition syndrome (CPS). Heritable conditions arise in the germline as a result of a pathogenic variant (mutation) in a cancer predisposition gene/s and confer an increased cancer risk across a child’s lifespan. In this chapter, we discuss how to identify children at risk to have a CPS based on their personal, medical, and family history and we give examples from common cancers, namely Wilms tumor, soft tissue sarcoma, neuroblastoma, and hepatoblastoma.

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Indications for Gene Testing for At Risk Families and Genetic Risk Calculation

  • 工具书词条

  • 发表日期：

    2025年

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  • Kanika Bhatia,
  • Nisreen Amayiri

摘要

Approximately 10–15% of pediatric malignancies can be attributed to an underlying cancer predisposition syndrome (CPS). Heritable conditions arise in the germline as a result of a pathogenic variant (mutation) in a cancer predisposition gene/s and confer an increased cancer risk across a child’s lifespan. In this chapter, we discuss how to identify children at risk to have a CPS based on their personal, medical, and family history and we give examples from common cancers, namely Wilms tumor, soft tissue sarcoma, neuroblastoma, and hepatoblastoma.