Volume 74, Issue 3, Pages (September 2018)

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Volume 74, Issue 3, Pages 248-252 (September 2018) Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology Chey Loveday, Philip Law, Kevin Litchfield, Max Levy, Amy Holroyd, Peter Broderick, Zsofia Kote-Jarai, Alison M. Dunning, Kenneth Muir, Julian Peto, Rosalind Eeles, Douglas F. Easton, Darshna Dudakia, Nick Orr, Nora Pashayan, Alison Reid, Robert A. Huddart, Richard S. Houlston, Clare Turnbull European Urology Volume 74, Issue 3, Pages 248-252 (September 2018) DOI: 10.1016/j.eururo.2018.05.036 Copyright © 2018 The Author(s) Terms and Conditions

Fig. 1 Testicular germ cell tumour (TGCT) risk alleles in TGCT cases and controls. Polygenic risk scores are plotted to show (A) probability density function (PDF) and (B) cumulative distribution function (CDF) for familial TGCT (green, n=236), sporadic TGCT (blue, n=3931), and controls (red, n=12,368). PDF and CDF are also shown for risk allele counts, unweighted by effect size, in (C) and (D), respectively. PRS=polygenic risk score; TGCT=testicular germ cell tumour. European Urology 2018 74, 248-252DOI: (10.1016/j.eururo.2018.05.036) Copyright © 2018 The Author(s) Terms and Conditions

Fig. 2 Relationship between ranked polygenic risk score and family history score. Spearman rank correlation showing the relationship between ranked polygenic risk score (y-axis) and ranked family history score (x-axis) for the 228 familial testicular germ cell tumour cases with a known pedigree structure. The underlying distributions of those data are shown, respectively, on the opposite axes. Rho=0.09; p=0.09. European Urology 2018 74, 248-252DOI: (10.1016/j.eururo.2018.05.036) Copyright © 2018 The Author(s) Terms and Conditions