Germline Pathogenic/Likely Pathogenic Mutations and Subsequent Neoplasms Among Childhood Cancer Survivors: A Report From the Children’s Oncology Group ALTE03N1 Study

Zhou L, Singh P, Crossman D, Richman J, Trainor P, Cheng C, Wang X, Sharafeldin N, Hageman L, Sheikh M, Richard MA, Friedman DN, Neglia JP, Wang Z, Hudson MM, Armenian SH, Hawkins D, Bhatia R, Landier W, Bhatia S. Germline Pathogenic/Likely Pathogenic Mutations and Subsequent Neoplasms Among Childhood Cancer Survivors: A Report From the Children’s Oncology Group ALTE03N1 Study. J Clin Oncol. 2025 Sep 20;43(27):3011-3020. doi: 10.1200/JCO-25-00542. Epub 2025 Aug 19. PMID: 40829087; PMCID: PMC12367065.

There is emerging evidence that germline pathogenic/likely pathogenic (P/LP) mutations in cancer predisposition genes (CPGs) increase the risk of subsequent neoplasms (SNs) in childhood cancer survivors. However, clinical application of this observation is hampered by the lack of knowledge regarding subpopulations at risk for SNs who could potentially benefit from genetic screening.