Germline pathogenic variants in 786 neuroblastoma patients
Jung Kim, Zalman Vaksman, Laura E. Egolf, Rebecca Kaufman, Perry Evans, Karina L. Conkrite, Arnavaz Danesh, Gonzalo López, Michael P. Randall, Maiah H. Dent, Lance M. Farra, Neil Menghani, Malwina Dymek, Heena Desai, Ryan M. Hausler, , Sharon J. Diskin
This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.
medRxiv · Jan 23, 2023 · PreprintGenetic & Genomic Medicine