The clinical utility of genomics in childhood cancer extends beyond targetable mutations

Study ID Alternative Stable ID Type
EGAS00001006034 Other

Study Description

Survival of children with relapsed cancer remains unacceptably low. Cancer genomic profiling may identify new therapeutic options, enhance diagnostic accuracy, and improve understanding of tumors’ origins and continued evolution. We deeply sequenced 864 cancer-associated genes and the complete genomes and transcriptomes for 300 pediatric and adolescent/young adult (AYA) patients with poor prognosis or rare tumors. Using integrative somatic-germline analyses, we assessed the clinical utility of cancer genomics in this population. We analyzed tumor mutational signatures and burden to interrogate the relevance of germline variants in DNA repair genes and the impact of therapeutic exposures on tumor evolution. We also evaluated the frequency of changes to tumor drivers and therapeutic targets at relapse in those with serial samples. Integrative analysis yielded clinically actionable variants in a majority of patients. Improved diagnostic accuracy led to modified management in a subset. Therapeutically targetable variants were of unanticipated timing and type, with many of these ... (Show More)

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
RNA-Seq transcriptome data is only for academic use.
NextSeq 500 2
RNA-Seq data for both Academic and For-profit use
Illumina HiSeq 2500,Illumina NovaSeq 6000,NextSeq 500 221

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