Laboratory director Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States
Description: Over 2000 pediatric patients with solid tumors have undergone tumor testing at the Children’s Hospital of Philadelphia. Germline variants associated with cancer predisposition were identified through tumor-only sequencing followed by confirmatory germline testing or through paired tumor-normal analysis. This presentation will share findings from both approaches, highlight key challenges, and discuss their clinical implications.
Learning Objectives: - Understand the rationale and clinical importance of identifying cancer predisposition in pediatric patients with solid tumors. - Describe current strategies for detecting germline variants through tumor testing, incorporating findings from a pediatric cohort and discussing associated challenges.