Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

I Kramer; MJ Hooning; N Mavaddat; M Hauptmann; R Keeman; EW Steyerberg; D Giardiello; AC Antoniou; PDP Pharoah; S Canisius; Z Abu-Ful; IL Andrulis; H Anton-Culver; KJ Aronson; A Augustinsson; H Becher; MW Beckmann; S Behrens; J Benitez; M Bermisheva; NV Bogdanova; SE Bojesen; MK Bolla; B Bonanni; H Brauch; M Bremer; SY Brucker; B Burwinkel; JE Castelao; TL Chan; J Chang-Claude; SJ Chanock; G Chenevix-Trench; JY Choi; CL Clarke; AL Børresen-Dale; K Sahlberg; L Ottestad; R Kåresen; E Schlichting; MM Holmen; T Sauer; V Haakensen; O Engebråten; B Naume; A Fosså; C Kiserud; K Reinertsen; Å Helland; M Riis; J Geisler; GG Alnæs; JM Collée; FJ Couch; A Cox; SS Cross; K Czene; MB Daly; P Devilee; T Dörk; I dos-Santos-Silva; AM Dunning; M Dwek; DM Eccles; DG Evans; PA Fasching; H Flyger; M Gago-Dominguez; M García-Closas; JA García-Sáenz; GG Giles; DE Goldgar; A González-Neira; CA Haiman; N Håkansson; U Hamann; M Hartman; BAM Heemskerk-Gerritsen; A Hollestelle; JL Hopper; MF Hou; A Howell; D Marsh; R Scott; R Baxter; D Yip; J Carpenter; A Davis; N Pathmanathan; P Simpson; JD Graham; M Sachchithananthan; D Amor; L Andrews; Y Antill; R Balleine; J Beesley; I Bennett; M Bogwitz

Journal article

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

I Kramer, MJ Hooning, N Mavaddat, M Hauptmann, R Keeman, EW Steyerberg, D Giardiello, AC Antoniou, PDP Pharoah, S Canisius, Z Abu-Ful, IL Andrulis, H Anton-Culver, KJ Aronson, A Augustinsson, H Becher, MW Beckmann, S Behrens, J Benitez, M Bermisheva Show all

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

DOI: 10.1016/j.ajhg.2020.09.001

Abstract

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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