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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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.
- Study Design:
- Case-Control
- Study Type:
- Case-Control
- Total number of consented subjects: 231
- Subject Sample Telemetry Report (SSTR)
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- Authorized Access
- Publicly Available Data (Public ftp)
- Study Inclusion/Exclusion Criteria
Blood-derived DNA samples of European ancestry Ewing sarcoma cases and ancestry-matched controls with PacBio circular consensus sequencing read data with accuracy greater than 99% and a minimum coverage depth of 15 reads after sequencing and mapping were included in the study.
- Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: Sarcoma, Ewing
- Links to Related Genes
- Links to Related Resources
- Authorized Data Access Requests
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See research articles citing use of the data from this study
- Study Attribution
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Principal Investigator
- Mitchell Machiela. National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
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Principal Investigator