Radiation-related genomic profile of papillary thyroid cancer after the Chernobyl accident

Science. Volume 372, Issue 6543, 14 May 2021 10.1126/science.abg2538

The 1986 Chernobyl nuclear power plant accident increased papillary thyroid cancer (PTC) incidence in surrounding regions, particularly for I-131-exposed children. We analyzed genomic, transcriptomic, and epigenomic characteristics of 440 PTCs from Ukraine (359 with estimated childhood I-131 exposure and 81 unexposed children born after 1986). PTCs displayed radiation dose-dependent enrichment of fusion drivers, nearly all in the mitogen-activated protein kinase pathway, and increases in small deletions and simple/balanced structural variants that were clonal and bore hallmarks of non-homologous end-joining repair. Radiation-related genomic alterations were more pronounced for those younger at exposure. Transcriptomic and epigenomic features were strongly associated with driver events but not radiation dose. Our results point to DNA double-strand breaks as early carcinogenic events that subsequently enable PTC growth following environmental radiation exposure.

Data in the GDC

• GDC Manifests
  • WGS Data - Download Manifest (1089 Files, BAM)
  • RNA-Seq Data - Download Manifest (1662 Files, FASTQ)
  • miRNA-Seq Data - Download Manifest (826 Files, FASTQ)

  Note: Users will require dbGaP access to project phs001134 to download the data files from the above manifests. These files have not yet been harmonized by the GDC and will become available through the GDC Data Portal after harmonization is complete.

• Additional sample information available at dbGaP and the Chernobyl Tissue Bank.

Instructions for Data Download

Open Access Data

1. Download the appropriate manifest file from the publication page
2. Use the manifest file to download data using the GDC Data Transfer Tool (DTT) or the GDC API
   • GDC DTT ( Download, User's Guide)
   • GDC API ( User’s Guide)

Controlled Access Data

1. Download the appropriate manifest file from the publication page
2. Download a token from the GDC Data Portal
   • GDC Data Portal ( Launch, User’s Guide)
3. Use the manifest file and token to download data using the GDC DTT or the GDC API
   • GDC DTT ( Download, User’s Guide)
   • GDC API ( User’s Guide)

For assistance, please contact the GDC Help Desk: support@nci-gdc.datacommons.io.