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Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study

Yang, X; Leslie, G; Gentry-Maharaj, A; Ryan, A; Intermaggio, M; Lee, A; Kalsi, JK; ... Antoniou, AC; + view all (2018) Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study. Journal of Medical Genetics 10.1136/jmedgenet-2018-105313. (In press). Green open access

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BACKGROUND: Genome-wide association studies have identified >30 common SNPs associated with epithelial ovarian cancer (EOC). We evaluated the combined effects of EOC susceptibility SNPs on predicting EOC risk in an independent prospective cohort study. METHODS: We genotyped ovarian cancer susceptibility single nucleotide polymorphisms (SNPs) in a nested case-control study (750 cases and 1428 controls) from the UK Collaborative Trial of Ovarian Cancer Screening trial. Polygenic risk scores (PRSs) were constructed and their associations with EOC risk were evaluated using logistic regression. The absolute risk of developing ovarian cancer by PRS percentiles was calculated. RESULTS: The association between serous PRS and serous EOC (OR 1.43, 95% CI 1.29 to 1.58, p=1.3×10-11) was stronger than the association between overall PRS and overall EOC risk (OR 1.32, 95% CI 1.21 to 1.45, p=5.4×10-10). Women in the top fifth percentile of the PRS had a 3.4-fold increased EOC risk compared with women in the bottom 5% of the PRS, with the absolute EOC risk by age 80 being 2.9% and 0.9%, respectively, for the two groups of women in the population. CONCLUSION: PRSs can be used to predict future risk of developing ovarian cancer for women in the general population. Incorporation of PRSs into risk prediction models for EOC could inform clinical decision-making and health management.

Type: Article
Title: Evaluation of polygenic risk scores for ovarian cancer risk prediction in a prospective cohort study
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/jmedgenet-2018-105313
Publisher version: http://dx.doi.org/10.1136/jmedgenet-2018-105313
Language: English
Additional information: © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/
Keywords: evaluation, ovarian cancer, polygenic risk scores, prospective cohort study, risk prediction
URI: http://discovery.ucl.ac.uk/id/eprint/10048292
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