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, Aarno Palotie, Jaakko Kaprio, Heikki Joensuu, Mark Daly and Samuli Ripatti ()
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Nina Mars: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Elisabeth Widén: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Sini Kerminen: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Tuomo Meretoja: Breast Surgery Unit, Comprehensive Cancer Center, Helsinki University Hospital
Matti Pirinen: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Pietro della Briotta Parolo: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Priit Palta: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Aarno Palotie: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Jaakko Kaprio: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Heikki Joensuu: University of Helsinki
Mark Daly: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki
Samuli Ripatti: Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki

Nature Communications, 2020, vol. 11, issue 1, 1-9

Abstract: Abstract 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 carriers) and an average PRS (10–90th percentile) have a lifetime risk of breast cancer at 55% (95% CI 49–61%), which increases to 84% (71–97%) with a high PRS ( > 90th percentile), and decreases to 49% (30–68%) with a low PRS (

Date: 2020
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DOI: 10.1038/s41467-020-19966-5

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