AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:81-90. eCollection 2018.
Utility of Genetic Testing in Addition to Mammography for Determining Risk of Breast Cancer Depends on Patient Age.
While screening and treatment have sharply reduced breast cancer mortality in the past 50 years, more targeted diagnostic testing may improve the accuracy and efficiency of care. Our retrospective, age-matched, case-control study evaluated the differential value of mammography and genetic variants to predict breast cancer depending on patient age. We developed predictive models using logistic regression with group lasso comparing (1) diagnostic mammography findings, (2) selected genetic variants, and (3) a combination of both. For women older than 60, mammography features were most predictive of breast cancer risk (imaging AUC = 0.74, genetic variants AUC = 0.54, combined AUC = 0.71). For women younger than 60 there is additional benefit to obtaining genetic testing (imaging AUC = 0.69, genetic variants AUC = 0.70, combined AUC = 0.72). In summary, genetic testing supplements mammography in younger women while mammography appears sufficient in older women for breast cancer risk prediction.