Journal article

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Iris Kramer, Maartje J Hooning, Nasim Mavaddat, Michael Hauptmann, Renske Keeman, Ewout W Steyerberg, Daniele Giardiello, Antonis C Antoniou, Paul DP Pharoah, Sander Canisius, Zumuruda Abu-Ful, Irene L Andrulis, Hoda Anton-Culver, Kristan J Aronson, Annelie Augustinsson, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva Show all

American Journal of Human Genetics | CELL PRESS | Published : 2020


Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER st..

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