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

ABSTRACT:

Purpose

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.

Patients and methods

Whole-exome sequencing was performed using germline DNA from 499 survivors with SNs (cases) and 625 survivors without (matched controls) in a Children's Oncology Group study. Using conditional logistic regression, we estimated demographic/clinical/therapeutic characteristics and P/LP mutations associated with SN risk. We then randomly partitioned the case-control data

SUBMITTER: Zhou L 

PROVIDER: S-EPMC12367065 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature