Journal article

The role of polygenic risk and susceptibility genes in breast cancer over the course of life.

Nina Mars, Elisabeth Widén, Sini Kerminen, Tuomo Meretoja, Matti Pirinen, Pietro Della Briotta Parolo, Priit Palta, undefined FinnGen, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly, Samuli Ripatti

Nature Communications | Published : 2020


Polygenic risk scores (PRS) for breast cancer have potential to improve risk prediction, but there is limited information on their utility in various clinical situations. Here we show that among 122,978 women in the FinnGen study with 8401 breast cancer cases, the PRS modifies the breast cancer risk of two high-impact frameshift risk variants. Similarly, we show that after the breast cancer diagnosis, individuals with elevated PRS have an elevated risk of developing contralateral breast cancer, and that the PRS can considerably improve risk assessment among their female first-degree relatives. In more detail, women with the c.1592delT variant in PALB2 (242-fold enrichment in Finland, 336 car..

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University of Melbourne Researchers