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Evaluating the prognostic performance of a polygenic risk score for breast cancer risk stratification

BMC Cancer Dec 23, 2021

Olsen M, Fischer K, Bossuyt PM, et al. - Considering that improvement in breast cancer screening recommendations can be made by accounting polygenic risk scores (PRS), researchers herein evaluated Cox models including either age alone or PRS and age as predictors for 3- and 5-year breast cancer incidence for women without known current breast cancer nor history of breast cancer in the Estonian biobank (EstBB) cohort.

  • The models were assessed for their prognostic performance in terms of calibration, discrimination, and reclassification.

  • From the EstBB cohort, data on 30,312 women were analyzed.

  • Within 3 and 5 years, there were a total of 101 (3.33‰) and 185 (6.1‰) incident breast cancers, respectively.

  • Relative to the model based on age only, modest incremental performance was recorded for the one including PRS with age.

  • For all women, the model including PRS with age had AUC of 0.720 for 3-year and 0.704 for 5-year follow-up, respectively, which is just 0.022 and 0.023 higher than for the model with age alone.

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