High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations

CONCLUSIONS: This study revealed that P/LP CNVs were common in a large cohort of BD patients with high rate of pediatric cancers. We present a comprehensive spectrum of P/LP CNVs in patients with BDs and various cancers. Notably, deletions involving E2F target genes and genes implicated in mitotic spindle assembly and G2/M checkpoint were identified, potentially disrupting cell-cycle progression and providing mechanistic insights into the concurrent occurrence of BDs and cancers.PMID:37989391 | DOI:10.1016/j.trsl.2023.11.004

Source: Translational Research : the journal of laboratory and clinical medicine - November 21, 2023 Category: Laboratory Medicine Authors: Hui-Qi Qu Joseph T Glessner Jingchun Qu Yichuan Liu Deborah Watson Xiao Chang Amir Hossein Saeidian Haijun Qiu Frank D Mentch John J Connolly Hakon Hakonarson Source Type: research