Skip to Content

Genomic Studies

DCEG investigates the biological basis of inherited and acquired genetic variants associated with cancer susceptibility, utilizing genome-wide association studies, exome sequencing, and candidate gene studies. DCEG scientists and their collaborators employ and array of advanced statistical methods to support these studies.

Genome-wide Association Studies

A genome-wide association study (GWAS) is an approach that involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. The goal is to understand how genes contribute to the disease and to use that understanding to help develop better prevention and treatment strategies. 

Having large-scale consortia of cohort and case-control studies has enabled DCEG to conduct large, comprehensive genome-wide association studies of specific cancers.  The Cancer Genetic Markers of Susceptibility project (CGEMS) began with genomic studies of breast and prostate cancer, but has grown to include many more endpoints.

Exome Studies

Whole exome sequencing enables researchers to sequence all of the exons (protein coding parts of a gene) in the genome, with the goal of identifying the genetic cause of a specific disease.  

Candidate Gene Studies

A candidate gene is a gene suspected to be involved with a particular disease, condition, or abnormality, based on previous findings. Candidate gene studies test an identified gene and mutation in a group of subjects both with the disease (cases) and without the disease (controls).

Statistical Methods

DCEG investigators collaborate with scientists at the Cancer Genomics Research (CGR) Laboratory (formerly the Core Genotyping Facility) to formulate design and analysis strategies in support of genetic association. Such strategies include determining the number of SNPs to be followed in various stages of multistage GWAS; choosing association test statistics; analyzing and adjusting for population stratification using principal component methods; conducting haplotype-based association scans; and exploring genetic pathways and interactions.

In addition, investigators have developed a number of tools and resources that are made available to the general scientific public for download and use: