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Principal Investigator
Mark Purdue
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health
Position Title
Senior Investigator
About this CDAS Project
PLCO (Learn more about this study)
Project ID
Initial CDAS Request Approval
Jul 1, 2022
Expanded Genome-Wide Association Study of Renal Cell Carcinoma
Renal cell carcinoma (RCC) comprises over 90% of kidney cancers and clear cell RCC (ccRCC) is the major histological subtype, accounting for approximately 80% of RCC cases. The contribution of common low-penetrance genetic variants to RCC heritability has become increasingly apparent through genome-wide association studies (GWAS). In particular, RCC GWAS investigations organized by our research group at the U.S. National Cancer Institute have made fundamental contributions to our understanding of genetic susceptibility for this malignancy.

To identify additional genetic susceptibility loci for this malignancy, we have genotyped approximately 12,000 cases using the Illumina Global Screening Array and plan to select PLCO participants genotyped using the same SNP array for use as controls for the association analysis. SNP imputation will be performed using case and control genotype data for SNPs of minor allele frequency ≥0.01 and the TOPMed reference panel. We will combine SNP summary association results form these subjects with those of past RCC GWAS through meta-analysis.

1. Identifying additional RCC risk loci at genome-wide significance;
2. Exploring susceptibility loci for RCC of papillary and chromophobe histology;
3. Conducting GWAS investigations among subjects of African ancestry which were previously underrepresented in our prior analysis;
4. Investigating genetic interactions with RCC risk factors (obesity, smoking, hypertension, and others as numbers permit); and
5. Among cases, conducting GWAS analyses investigating associations with survival and recurrence.


Mitch Machiela
Stephen Chanock