Publication Abstract

Authors: Liu J, Page D, Peissig P, McCarty C, Onitilo AA, Trentham-Dietz A, Burnside E

Title: New genetic variants improve personalized breast cancer diagnosis.

Journal: AMIA Jt Summits Transl Sci Proc 2014:83-9

Date: 2014

Abstract: Recent large-scale genome-wide association studies (GWAS) have identified a number of new genetic variants associated with breast cancer. However, the degree to which these genetic variants improve breast cancer diagnosis in concert with mammography remains unknown. We conducted a case-control study and collected mammography features and 77 genetic variants which reflect the state of the art GWAS findings on breast cancer. A na´ve Bayes model was developed on the mammography features and these genetic variants. We observed that the incorporation of the genetic variants significantly improved breast cancer diagnosis based on mammographic findings.