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Targeted Long-Read Sequencing of the Ewing Sarcoma 6p25.1 Susceptibility Locus
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Mitchell Machiela,  
Project

About This Dataset
Ewing Sarcoma (EwS) is rare but the second most common cancer in children, adolescents and young adults. Recent studies suggest germline variation in or around GGAA microsatellites may interact with fusion oncoprotein binding causing changes in binding affinity and potentially impacting enhancer activity on nearby target genes. This study aims to better understand germline variation around EwS susceptibility regions by performing long-range haplotype sequencing of these regions using PacBio sequencing. Our analysis focused on characterizing variation in GGAA microsatellite length as well as germline variants in or around the microsatellite and their association with EwS risk.
Core Data Elements
Number of Cases
231
Case Sex
Female (127); Male (100); Unknown (4)
Case Age At Diagnosis
Pediatric and Young Adult (<40 years) (231)
Case Race
White (231)
Case Ethnicity
Not Reported (231)
Case Disease Diagnosis
Control (114); Ewing Sarcoma (117)
Number of Samples
462
Sample Analyte Type
DNA (462)
Sample Anatomic Site
Peripheral Blood (462)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
P30CA086862
Cancer Center Support Grant
Published In
https://doi.org/10.1038/s41467-018-05537-2
Charts
Female (127); Male (100); Unknown (4)
127Female