Germline variation in DNA damage repair genes in children with cancer: Unveiling SMARCAL1 as novel osteosarcoma predisposition gene
Ninad Oak, Wenan Chen, Alise K. Blake, Lynn H. Harrison, Martha O'Brien, Christopher Previti, Gnanaprakash Balasubramanian, Kendra K. Maaß, Steffen Hirsch, Judith Penkert, Barbara C. Jones, Kathrin Schramm, Michaela Nathrath, Kristian W. Pajtler, David Jones, , Richa Sharma
The paper identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.
Journal of Clinical Oncology · Oct 9, 2025Peer-reviewedGenetic & Genomic Medicine