Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers.

ABSTRACT:

Background

Second malignant neoplasms (SMNs) are one of the most severe late complications after pediatric cancer treatment. However, the effect of genetic variation on SMNs remains unclear. In this study, we revealed germline genetic factors that contribute to the development of SMNs after treatment of pediatric solid tumors.

Methods

We performed whole-exome sequencing in 14 pediatric patients with SMNs, including three brain tumors.

Results

Our analysis revealed that five of 14 (35.7%) patients had pathogenic germline variants in cancer-predisposing genes (CPGs), which was significantly higher than in the control cohort (p < 0.01). The identified genes with variants were TP53 (n = 2), DICER1 (n = 1), PMS2 (n = 1), and PTCH1 (n = 1). In terms of the type of subsequen

SUBMITTER: Yoshida M 

PROVIDER: S-EPMC10242325 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature