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Identification and Characterization of Genetic Variants Predisposing Cancer

Principal Investigator
Name
Jeffrey Smith
Degrees
M.D., Ph.D.
Institution
Vanderbilt University Medical Center
Position Title
Associate Professor
Email
About this CDAS Project
Study
PLCO (Learn more about this study)
Project ID
PLCO-918
Initial CDAS Request Approval
Feb 16, 2022
Title
Identification and Characterization of Genetic Variants Predisposing Cancer
Summary
We are conducting a genetic association studies of prostate cancer. The goal of our prostate cancer study is to identify genetic variants underlying predisposition to familial prostate cancer. The design is case-control, comparing cases with a family history of prostate cancer to controls without a personal or family history of prostate cancer. We will employ PLCO data as an additional frame of reference for comparison to our study, for replication of observations and assessment of relative effect size and significance.
Aims

1. To identify germline genetic variants that are enriched among men with a family history of prostate cancer and that carry substantial risk for the disease.
2. To delineate the ancestral haplotypes and their segregating pathogenic mutations.
3. To further discern how each may impact aggressiveness.

Collaborators

William Dupont, Ph.D.