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

Show simple item record

dc.contributor University of Helsinki, Complex Disease Genetics en
dc.contributor University of Helsinki, Centre of Excellence in Complex Disease Genetics en
dc.contributor University of Helsinki, HUS Comprehensive Cancer Center en
dc.contributor University of Helsinki, Statistical and population genetics en
dc.contributor University of Helsinki, Centre of Excellence in Complex Disease Genetics en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Centre of Excellence in Complex Disease Genetics en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Research Programs Unit en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, Institute for Molecular Medicine Finland en
dc.contributor University of Helsinki, HUS Neurocenter en
dc.contributor.author Mars, Nina
dc.contributor.author Widen, Elisabeth
dc.contributor.author Meretoja, Tuomo
dc.contributor.author Kerminen, Sini
dc.contributor.author Pirinen, Matti
dc.contributor.author Della Briotta Parolo, Pietro
dc.contributor.author Palta, Priit
dc.contributor.author FinnGen
dc.contributor.author Palotie, Aarno
dc.contributor.author Kaprio, Jaakko
dc.contributor.author Joensuu, Heikki
dc.contributor.author Daly, Mark
dc.contributor.author Ripatti, Samuli
dc.contributor.author Pärn, Kalle
dc.contributor.author Tienari, Pentti
dc.date.accessioned 2020-12-21T13:45:01Z
dc.date.available 2020-12-21T13:45:01Z
dc.date.issued 2020-12-14
dc.identifier.citation 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 en
dc.identifier.issn 2041-1723
dc.identifier.other PURE: 157913964
dc.identifier.other PURE UUID: 9309770d-03dc-41e8-a6cb-a0c40c5fcafd
dc.identifier.other ORCID: /0000-0003-0281-2507/work/85815112
dc.identifier.other ORCID: /0000-0002-1664-1350/work/85816106
dc.identifier.other ORCID: /0000-0001-6361-6759/work/85816296
dc.identifier.other ORCID: /0000-0001-9320-7008/work/85816327
dc.identifier.other ORCID: /0000-0002-2691-0710/work/85816564
dc.identifier.other WOS: 000600197300003
dc.identifier.other ORCID: /0000-0002-2527-5874/work/97266524
dc.identifier.uri http://hdl.handle.net/10138/323570
dc.description.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 ( en
dc.format.extent 9
dc.language.iso eng
dc.relation.ispartof Nature Communications
dc.rights en
dc.subject 3122 Cancers en
dc.subject MUTATIONS en
dc.subject FAMILIES en
dc.subject BRCA2 en
dc.subject WOMEN en
dc.title The role of polygenic risk and susceptibility genes in breast cancer over the course of life en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1038/s41467-020-19966-5
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl
dc.contributor.pbl

Files in this item

Total number of downloads: Loading...

Files Size Format View
s41467_020_19966_5.pdf 2.870Mb PDF View/Open

This item appears in the following Collection(s)

Show simple item record