Reliability of Ancestry-specific Prostate Cancer Genetic Risk Score in Four Racial and Ethnic Populations

Siegel, 2021, Cancer statistics, 2021, CA Cancer J Clin, 71, 7, 10.3322/caac.21654 National Cancer Institute. Cancer stat facts: prostate cancer 2022. https://seer.cancer.gov/statfacts/html/prost.html. Schroder, 2014, Screening and prostate cancer mortality: results of the European Randomised Study of Screening for Prostate Cancer (ERSPC) at 13 years of follow-up, Lancet, 384, 2027, 10.1016/S0140-6736(14)60525-0 Kilpelainen, 2011, False-positive screening results in the European randomized study of screening for prostate cancer, Eur J Cancer, 47, 2698, 10.1016/j.ejca.2011.06.055 U. S. Preventive Services Task Force, 2018, Screening for prostate cancer: US Preventive Services Task Force recommendation statement, JAMA, 319, 1901, 10.1001/jama.2018.3710 Carroll, 2016, NCCN guidelines insights: prostate cancer early detection, version 2.2016, J Natl Compr Canc Netw, 14, 509, 10.6004/jnccn.2016.0060 Wei, 2021, Observed evidence for guideline-recommended genes in predicting prostate cancer risk from a large population-based cohort, Prostate, 81, 1002, 10.1002/pros.24195 Conti, 2021, Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction, Nat Genet, 53, 65, 10.1038/s41588-020-00748-0 Zheng, 2008, Cumulative association of five genetic variants with prostate cancer, N Engl J Med, 358, 910, 10.1056/NEJMoa075819 Kader, 2012, Potential impact of adding genetic markers to clinical parameters in predicting prostate biopsy outcomes in men following an initial negative biopsy: findings from the REDUCE trial, Eur Urol, 62, 953, 10.1016/j.eururo.2012.05.006 Chen, 2016, Adding genetic risk score to family history identifies twice as many high-risk men for prostate cancer: results from the prostate cancer prevention trial, Prostate, 76, 1120, 10.1002/pros.23200 Shi, 2021, Performance of three inherited risk measures for predicting prostate cancer incidence and mortality: a population-based prospective analysis, Eur Urol, 79, 419, 10.1016/j.eururo.2020.11.014 Darst, 2021, Combined effect of a polygenic risk score and rare genetic variants on prostate cancer risk, Eur Urol, 80, 134, 10.1016/j.eururo.2021.04.013 Seibert, 2018, Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts, BMJ, 360, j5757, 10.1136/bmj.j5757 Na, 2019, Single-nucleotide polymorphism-based genetic risk score and patient age at prostate cancer diagnosis, JAMA Netw Open, 2, e1918145, 10.1001/jamanetworkopen.2019.18145 Xu, 2022, Inherited risk assessment and its clinical utility for predicting prostate cancer from diagnostic prostate biopsies, Prostate Cancer Prostatic Dis, 25, 422, 10.1038/s41391-021-00458-6 Martin, 2019, Clinical use of current polygenic risk scores may exacerbate health disparities, Nat Genet, 51, 584, 10.1038/s41588-019-0379-x Wei, 2022, Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB, J Med Genet, 59, 243, 10.1136/jmedgenet-2020-107286 Fritsche, 2021, On cross-ancestry cancer polygenic risk scores, PLoS Genet, 17, e1009670, 10.1371/journal.pgen.1009670 Plym, 2022, Evaluation of a multiethnic polygenic risk score model for prostate cancer, J Natl Cancer Inst, 114, 771, 10.1093/jnci/djab058 Howlader N, Noone AM, Krapcho M, et al. SEER Cancer Statistics Review (CSR) 1975–2018. 2021. https://seer.cancer.gov/csr/1975_2018/. Fuchsberger, 2015, minimac2: faster genotype imputation, Bioinformatics, 31, 782, 10.1093/bioinformatics/btu704 Durand, 2014, Ancestry composition: a novel, efficient pipeline for ancestry deconvolution, bioRxiv, 010512 Yu, 2019, Concept and benchmarks for assessing narrow-sense validity of genetic risk score values, Prostate, 79, 1099, 10.1002/pros.23821 Platt, 1999, Probabilistic outputs for support vector machines and comparisons to regularized likelihood methods, Adv Large Margin Classifiers, 10, 61 Yu, 2020, Broad- and narrow-sense validity performance of three polygenic risk score methods for prostate cancer risk assessment, Prostate, 80, 83, 10.1002/pros.23920 Schumacher, 2018, Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci, Nat Genet, 50, 928, 10.1038/s41588-018-0142-8 Karunamuni, 2022, Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24, Prostate Cancer Prostatic Dis, 25, 229, 10.1038/s41391-021-00403-7 Karunamuni, 2021, Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer, Prostate Cancer Prostatic Dis, 24, 532, 10.1038/s41391-020-00311-2 Vilhjalmsson, 2015, Modeling linkage disequilibrium increases accuracy of polygenic risk scores, Am J Hum Genet, 97, 576, 10.1016/j.ajhg.2015.09.001 Ge, 2019, Polygenic prediction via Bayesian regression and continuous shrinkage priors, Nat Commun, 10, 1776, 10.1038/s41467-019-09718-5 Khera, 2018, Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations, Nat Genet, 50, 1219, 10.1038/s41588-018-0183-z Hosmer, 1997, A comparison of goodness-of-fit tests for the logistic regression model, Stat Med, 16, 965, 10.1002/(SICI)1097-0258(19970515)16:9<965::AID-SIM509>3.0.CO;2-O Tung, 2011, Efficient replication of over 180 genetic associations with self-reported medical data, PLoS One, 6, e23473, 10.1371/journal.pone.0023473