Article
Potential of polygenic risk scores for improving population estimates of women's breast cancer genetic risks.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021
Wolfson Michael, Gribble Steve, Pashayan Nora, Easton Douglas F, Antoniou Antonis C, Lee Andrew, van Katwyk Sasha, Simard Jacques
Abstract excerpt
PURPOSE: Breast cancer risk has conventionally been assessed using family history (FH) and rare high/moderate penetrance pathogenic variants (PVs), notably in BRCA1/2, and more recently PALB2, CHEK2, and ATM. In addition to these PVs, it is now possible to use increasingly predictive polygenic risk scores (PRS) as well. The comparative population-level predictive capability of these three different indicators of...
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