NCI Expanded Genome-Wide Association Study of Renal Cell Carcinoma

The National Cancer Institute (NCI) expanded genome-wide association study (GWAS) of renal cell carcinoma (RCC) was a 2nd GWAS of this cancer performed by NCI to further investigate common genetic variants associated with RCC risk. The GWAS includes 2,781 cases and 2,940 controls of European background from 13 studies conducted in the US and Finland (10 cohorts, 2 case series, 1 hospital biorepository), scanned using the Illumina OmniExpress and Omni2.5 SNP arrays.

SNP-level results from this GWAS were combined by meta-analysis with results from the earlier NCI RCC GWAS (phs000351.v1.p1; 1,311 cases and 3,424 controls) and others conducted by the International Agency for Research on Cancer (scan 1: 2,438 cases and 5,071 controls; scan 2: 2,781 cases and 2,940 controls), The University of Texas MD Anderson Cancer Center (893 cases and 556 controls) and the Institute for Cancer Research, UK (944 cases and 4,024 controls).

Note: summary statistics from the GWAS analysis are freely available for download from the dbGaP public ftp site (under the directory “FullData”).

Only data from the second NCI scan are included in this dbGaP submission. Data from 239 cases and 229 controls from this scan will be deposited in dbGaP separately under the Women's Health Initiative (phs000200).

• Study Design:
  • Case Set
• Study Type:
  • Case Set
  • Cohort
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 2385
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• PMC

Cases included adult patients diagnosed with kidney cancer (International Classification of Disease for Oncology 2nd and 3rd Edition topography code C64) ) diagnosed among participants of European ancestry with stored DNA source specimens. Controls were subjects of European ancestry with no history of RCC who have been previously scanned as controls in another GWAS project using an Omni-generation beadchip (an exception to this is for the Vanderbilt BioVU study, from which 350 controls were scanned).

• Primary Phenotype: Carcinoma, Renal Cell

• Principal Investigator
  • Mark Purdue, PhD. National Institutes of Health, Bethesda, MD, USA.
• Funding Source
  • National Cancer Institute Intramural Research Program. National Institutes of Health, Bethesda, MD, USA.