Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genes
Riaz Gillani, Sabrina Yvonne Camp, Seunghun Han, Jill K. Jones, Hoyin Chu, Schuyler O’Brien, Erin L. Young, Lucy Hayes, Gareth Mitchell, Trent Fowler, Alexander Gusev, Junne Kamihara, Katherine A. Janeway, Joshua David Schiffman, Brian D. Crompton, , Eliezer M. Van Allen
This study identifies inherited pathogenic variants in DNA damage repair genes as a distinct germline risk factor for Ewing sarcoma, with FANCC showing significant enrichment.
The American Journal of Human Genetics · May 4, 2022Peer-reviewedGenetic & Genomic Medicine