What is it about?
This study investigates the genetic relationship between birth defects and pediatric cancers. By analyzing the genomes of 1,454 children with birth defects, researchers focused on copy number variations (CNVs) – changes in the number of copies of a particular gene.
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Why is it important?
This research found that pathogenic or likely pathogenic copy number variations (P/LP CNVs) are common in children with birth defects (BDs) who also have a high rate of pediatric cancers. The study provides a detailed look at these P/LP CNVs in such patients, uncovering important genetic changes. Specifically, it identified deletions in genes related to cell cycle regulation and cell division. These findings shed light on why birth defects and cancers might occur together and could lead to new ways to treat or even prevent both conditions.
Perspectives
Moving forward, this study opens new paths in both healthcare and scientific research. For healthcare providers, it could provide a way to track children with birth defects for early signs of cancer by using the CNV markers identified in the study. For researchers, it stresses the need for more in-depth exploration into the exact genetic changes that might lead to both birth defects and cancer. This kind of research could ultimately result in the development of tailored treatments that specifically address these genetic abnormalities.
Dr. Hui-Qi Qu
Children's Hospital of Philadelphia
Read the Original
This page is a summary of: High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations, Translational Research, November 2023, Elsevier,
DOI: 10.1016/j.trsl.2023.11.004.
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