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Genomic landscape of Ewing sarcoma (ICGC project)

The Ewing sarcoma project aims to sequence 100 complete genomes of cells of patients suffering from this disease. It is an initiative of great projection, since this is the second most common bone tumor in children and teenagers. The goal of the project is to establish the catalogue of somatic mutations that may cooperate with EWS-ETS fusion in the development of the tumor. The Ewing sarcoma project aims to perform 100 whole genome sequencing of germline and tumor DNA as well as at least 50 RNA-seq from tumors. Correlations between molecular profiles and clinical features will be established. The mutated genes will be further validated in a series of 500 Ewing sarcoma cases from our Tumor Bank.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001001051 Illumina HiSeq 2000 200
Publications Citations
Genomic landscape of Ewing sarcoma defines an aggressive subtype with co-association of STAG2 and TP53 mutations.
Cancer Discov 4: 2014 1342-1353
The Childhood Solid Tumor Network: A new resource for the developmental biology and oncology research communities.
Dev Biol 411: 2016 287-293
Sequencing Overview of Ewing Sarcoma: A Journey across Genomic, Epigenomic and Transcriptomic Landscapes.
Int J Mol Sci 16: 2015 16176-16215
Activation of PTHrP-cAMP-CREB1 signaling following p53 loss is essential for osteosarcoma initiation and maintenance.
Elife 5: 2016 e13446
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Genet Med 19: 2017 955-958
DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma.
Nat Med 23: 2017 386-395
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors.
Science 361: 2018 eaam8419
Comprehensive analysis of mutational signatures reveals distinct patterns and molecular processes across 27 pediatric cancers.
Nat Cancer 4: 2023 276-289