US Flag logoAn official website of the United States government
Kids First: Ewing Sarcoma - Genetic Risk
Kids First Data Resource
Data Resource:  Kids First Data Resource
Point of Contact:  
Allison Heath,  
Project

About This Dataset
Ewing sarcoma (EWS) is a deadly bone cancer that occurs in children and adolescents. Mounting evidence suggests that a genetic predisposition exists for this pediatric cancer, although the specific genetic contribution has yet to be identified. EWS has never been linked to a specific cancer predisposition syndrome, although several case reports have been published that describe siblings and cousins with EWS. Furthermore, neuroectodermal tumors appear to occur more commonly in families with EWS. The two consistent epidemiology findings in EWS include a very strong Caucasian predilection and increased rates of hernia in EWS patients and their family members. Finally, the role of genetic microsatellite repeats in EWS tumorigenesis has been recently described, and these GGAA microsatellites are polymorphic in repeat size and location across the genome. The study goals of this Kids First project include (1) To identify cancer predisposition genes in EWS trios increasing disease risk, (2) To identify genome-wide GGAA microsatellite repeats in EWS trios increasing disease risk, and (3) To identity de novo mutation and structural variant rates in EWS trios reflecting underlying DNA repair defects that increase disease risk. As part of the Kids First Common Fund initiative, this study proposal will further elucidate the genetic contribution to pediatric cancer development. Around 375 of these trios were selected for whole genome sequencing as part of the Gabriella Miller Kids First fund. The EWS trios have been collected as part of the Children's Oncology Group's AEPI10N5 Study ("Genetic Epidemiology of Ewing Sarcoma"), and each trio has associated phenotypic data including a detailed family history. We will interrogate the sequence data using our genomic analysis pipeline at the University of Utah and the Utah Science Technology and Research initiative's (USTAR) Center for Genetic Discovery. We will look for the genetic contribution to ES and the sequence data with be shared in a repository designated by the Kids First Common Fund.
Core Data Elements
Number of Cases
1,287
Case Sex
Female (615); Male (672)
Case Age At Diagnosis
0 to 4 years (45); 5 to 9 years (110); 10 to 14 years (206); 15 to 19 years (161); 20 to 24 years (26); 25 to 29 years (6); 30 to 34 years (1); 35 to 39 years (1); Pediatric and Young Adult (<40 years) (731)
Case Race
American Indian or Alaska Native (3); Asian (5); Black or African American (5); More Than One Race (1); Native Hawaiian or Other Pacific Islander (1); White (229); Not Reported (1,011); Unknown (32)
Case Ethnicity
Hispanic or Latino (34); Not Hispanic or Latino (228); Not Reported (1,011); Unknown (14)
Case Disease Diagnosis
Ewing Sarcoma (563); Peripheral Primitive Neuroectodermal Tumor (1); Primitive Neuroectodermal Tumor (2); Rhabdomyosarcoma (1); Sarcoma (1); Soft Tissue Sarcoma (1); Not Reported (718)
Case Proband
Yes (670); No (617)
Number of Samples
1,460
Sample Assay Method
RNA Sequencing (77); Whole Genome Sequencing (1,383)
Additional Data Elements
DBGAP STUDY IDENTIFIER
DATA REPOSITORY
Grant Information
R01CA161780
Genetic Risk Factors for Ewing's Sarcoma
Charts
Male (672); Female (615)
672Male