CCDC - Childhood Cancer Data Catalog

INCLUDE: The Epidemiology of Transient Leukemia in Newborns with Down Syndrome

dbGaP

Data Resource: dbGaP

Point of Contact:

Adam de Smith,

desmith@usc.edu

Project

About This Dataset

The INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project is an NIH-wide collaboration that seeks to improve health and quality-of-life for people with Down syndrome. The INCLUDE Project Data Coordinating Center and partners created the INCLUDE Data Hub, a centralized data resource that allows access to large-scale clinical and multi-omics datasets specific to Down syndrome and supports collaborative, cloud-based analysis to accelerate scientific discoveries related to Down syndrome and its co-occurring conditions. Down syndrome (DS) is associated with a remarkably high risk of childhood acute myeloid leukemia (AML), with an approximately 500-fold increased risk of the rare subtype acute megakaryoblastic leukemia. Though largely treatable, a proportion of myeloid leukemia in DS (ML-DS) patients relapse with dismal survival. To address this, the main aim of this X01 study is to perform the first genetic association study of GATA1 mutations in DS, through whole-genome sequencing (WGS) of 470 DS newborns in the Oxford Down Syndrome Cohort Study (ODSCS). Whole genome sequencing data in DS newborns from the ODSCS will provide a rich resource for the DS research community.

Core Data Elements

Number of Cases

436

Case Sex

Female (218); Male (215); Unknown (3)

Case Age At Diagnosis

Pediatric and Young Adult (<40 years) (436)

Case Race

Not Reported (436)

Case Ethnicity

Not Reported (436)

Case Disease Diagnosis

Acute Myeloid Leukemia (436)

Case Tumor Site

Not Reported (436)

Number of Samples

436

Additional Data Elements

DBGAP STUDY IDENTIFIER

Grant Information

X01HD107380

Charts

Female (218); Male (215); Unknown (3)