Germline rare variants in cancer susceptibility genes and subsequent neoplasm risk after childhood cancer.

ABSTRACT:

Background

Among childhood cancer survivors, germline rare variants in autosomal dominant cancer susceptibility genes could increase the risk of subsequent neoplasms, but risks for rarer subsequent neoplasms and by age at onset are not well understood.

Methods

We pooled the Childhood Cancer Survivor Study and St Jude Lifetime Cohort (median follow-up = 29.7 years [range = 7.1-55.6 years]) to identify rare deleterious germline variants across 150 literature-based cancer susceptibility genes using the ClinVar (National Library of Medicine) and SnpEff tools. Conditional logistic regression evaluated overall and subsequent neoplasm-specific risk, matching up to 100 subsequent neoplasm-free control individuals to participants by age, sex, childhood cancer type, radiation dose, ch

SUBMITTER: Zamani SA 

PROVIDER: S-EPMC12628269 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature