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Article

Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.

Journal of medical genetics - 1 Apr 2023

Lakeman Inge M M, Rodríguez-Girondo Mar D M, Lee Andrew, Celosse Nandi, Braspenning Merel E, van Engelen Klaartje, van de Beek Irma, van der Hout Annemiek H, Gómez García Encarna B, Mensenkamp Arjen R, Ausems Margreet G E M, Hooning Maartje J, Adank Muriel A, Hollestelle Antoinette, Schmidt Marjanka K, van Asperen Christi J, Devilee Peter

Abstract excerpt

BACKGROUND: Common low-risk variants are presently not used to guide clinical management of familial breast cancer (BC). We explored the additive impact of a 313-variant-based Polygenic Risk Score (PRS313) relative to standard gene testing in non-BRCA1/2 Dutch BC families. METHODS: We included 3918 BC cases from 3492 Dutch non-BRCA1/2 BC families and 3474 Dutch population controls. The association of the...

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Identifiers

PMID: 36137616
DOI: 10.1136/jmg-2022-108502

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