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

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Mars , N , Widen , E , Meretoja , T , Kerminen , S , Pirinen , M , Della Briotta Parolo , P , Palta , P , FinnGen , Palotie , A , Kaprio , J , Joensuu , H , Daly , M , Ripatti , S , Pärn , K & Tienari , P 2020 , ' The role of polygenic risk and susceptibility genes in breast cancer over the course of life ' , Nature Communications , vol. 11 , no. 1 , 6383 . https://doi.org/10.1038/s41467-020-19966-5

Title: The role of polygenic risk and susceptibility genes in breast cancer over the course of life
Author: Mars, Nina; Widen, Elisabeth; Meretoja, Tuomo; Kerminen, Sini; Pirinen, Matti; Della Briotta Parolo, Pietro; Palta, Priit; FinnGen; Palotie, Aarno; Kaprio, Jaakko; Joensuu, Heikki; Daly, Mark; Ripatti, Samuli; Pärn, Kalle; Tienari, Pentti
Contributor: University of Helsinki, Complex Disease Genetics
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, Statistical and population genetics
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Research Programs Unit
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, HUS Neurocenter
Date: 2020-12-14
Language: eng
Number of pages: 9
Belongs to series: Nature Communications
ISSN: 2041-1723
URI: http://hdl.handle.net/10138/323570
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 (10-90(th) percentile) have a lifetime risk of breast cancer at 55% (95% CI 49-61%), which increases to 84% (71-97%) with a high PRS (>90(th) percentile), and decreases to 49% (30-68%) with a low PRS (
Subject: 3122 Cancers
MUTATIONS
FAMILIES
BRCA2
WOMEN
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