Ewing Sarcoma Genome-wide Association Study
Ewing sarcoma (EWS) is a pediatric bone and soft tissue tumor for which genetic risk factors remain poorly understood. DCEG investigators are studying inherited genetic variation to identify regions in the genome associated with increased risk of EWS. They accomplish this by comparing the frequency of genotyped genetic variants between EWS cases and ancestry-matched, cancer-free controls to identify genomic regions that are important for EWS susceptibility.
This large (2,000+ cases), international consortium combines previously published data with new EWS cases to perform integrative analyses of newly discovered genetic susceptibility regions to identify local genomic structures and nearby target genes that may be important for EWS risk. The overall goal of the study is to expand understanding of EWS etiology and provide insight into improved treatment and potentially preventative measures to reduce the overall burden of EWS.
For more information, contact Mitchell Machiela.
- Comparative international incidence of Ewing sarcoma 1988 to 2012. Int J Cancer 2021; Spector LG, Hubbard AK, Diessner BJ, et al.
- Germline variation and somatic alterations in Ewing sarcoma. Methods Mol Biol 2021; Machiela MJ, Grünewald TGP.
- Low-frequency variation near common germline susceptibility loci are associated with risk of Ewing sarcoma. PLoS One 2020; Lin S, Sampson JN, Grünewald TGP, et al.
- Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility. Nat Commun 2018; Machiela MJ, Grünewald TGP, Surdez D, et al.
- Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite. Nat Genet 2015; Grünewald TGP, Bernard V, Gilardi-Hebenstreit P, et al.