Year: 2025
Type: article
Study design: Observational Study
Abstract: Childhood cancer survivors (CCS) often face late-onset adverse effects, with pulmonary complications being particularly common. In this study, we analyzed 104 CCS with pulmonary issues post-treatment using a genome-wide association study (GWAS) to identify genetic susceptibility markers. Among the cohort, 20% were diagnosed with interstitial lung disease (ILD), while other complications included pulmonary fibrosis (3%) and bronchiolitis obliterans (3%). Pulmonary function test (PFT) impairments were present in 74% of patients, with symptoms such as exertional dyspnea (14%) and chronic cough (9%). Imaging revealed bronchiectasis in 7% of patients. Although no genome-wide significant loci were identified, several loci of suggestive significance were detected, including rs6804526 (P = 6.21 × 10-5) and rs117985268 (P = 2.98 × 10-5), which are previously associated with breast cancer and respiratory failure, respectively. Additionally, copy number variation (CNV) analysis identified a 21q22.3 deletion in one patient, a region linked to lung cancer. While no genome-wide significant loci were found, these suggestive loci and CNV findings highlight potential genetic modifiers of pulmonary risk in CCS, warranting further investigation in larger cohorts to confirm these associations.
Source: Scientific Reports
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,690
OpenAlex ID: W4410026376