Role of DNA damage repair genes in pediatric cancer risk
Dr. Richa Sharma
A study at St. Jude Childrens Research Hospital (Memphis, TN) confirmed the relevance of DNA damage repair (DDR) genetic variation in pediatric cancer risk, and identified four novel associations of germline pathogenic variants in DDR genes with pediatric cancer: SMARCAL1 in osteosarcoma, BRCA1 in ependymoma, SPIDR in high-grade glioma, and SMC5 in medulloblastoma. The authors conclude that the study provides insights into tumor biology and creates opportunities to optimize care for pediatric patients with challenging tumors.
