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Identification and characterization of common genetic variants associated with circulating CA-125

Principal Investigator

Name
Hannah Yang

Institution
NCI, DCEG, HREB

Email
hannah.yang@nih.gov

About this CDAS Project

Study
PLCO (Learn more about this study)

Project ID
2010-0092

Initial CDAS Request Approval
Jul 1, 2010

Title
Identification and characterization of common genetic variants associated with circulating CA-125

Summary
Measurements of cancer antigen 125 (CA-125) along with transvaginal ultrasound and a pelvic exam are currently used for ovarian cancer detection. Although race has been associated with CA-125 levels, suggesting a potential genetic component, to date, no genome-wide association study (GWAS) has yet systematically evaluated the inherited determinants of CA-125 levels. Thus, we propose to conduct an exploratory genome-wide association study with baseline CA-125 levels as determined at the first screen and the genome-wide scan data from female subjects in the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial. We anticipate having at least 1,000 women with CA-125 measurements and genome-wide scan data for stage 1 of our study. Although not a part of this proposal, if approved by EEMS, we plan to replicate the top 10-15 findings in an additional 2,500 women from PLCO with CA-125 levels (stage 2). If successful, this study may provide a better understanding of inter-individual variation in CA-125 levels.

Aims

We propose to conduct an exploratory genome-wide association study utilizing a two-stage study design with the primary goal of identifying genome-wide single marker associations with baseline CA-125 levels as determined at the first screen using the genome-wide scan data from the female subjects in the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial.