Leveraging Interaction between Genetic Variants and Mammographic Findings for Personalized Breast Cancer Diagnosis

AMIA Jt Summits Transl Sci Proc. 2015 Mar 25:2015:107-11. eCollection 2015.


Recent large-scale genome-wide association studies (GWAS) have identified a number of genetic variants associated with breast cancer which showed great potential for clinical translation, especially in breast cancer diagnosis via mammograms. However, the amount of interaction between these genetic variants and mammographic features that can be leveraged for personalized diagnosis remains unknown. Our study utilizes germline genetic variants and mammographic features that we collected in a breast cancer case-control study. By computing the conditional mutual information between the genetic variants and mammographic features given the breast cancer status, we identified six interaction pairs which elevate breast cancer risk and five interaction pairs which reduce breast cancer risk.