October 13, 2025- Researchers at Cleveland Clinic Children’s have helped identify a previously unknown gene that increases the risk of developing osteosarcoma, the most common type of malignant bone tumor in children and young adults.
Recently published in the Journal of Clinical Oncology, researchers analyzed genetic information from nearly 6,000 children with cancer and compared it to more than 14,000 adults without cancer. Utilizing databases and prediction tools, the study authors focused on 189 genes that participate in several DNA repair pathways.
The results showed that some children with cancer had inherited changes in certain DNA repair genes, that may raise their risk of developing particular cancers. One gene in particular, SMARCAL1 was flagged as a significant risk factor for osteosarcoma. Approximately 2.6% of children with osteosarcoma carry these inherited mutations in SMARCAL1, which may weaken DNA repair and promote tumor growth.
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