Cited by 918Genetic Associations and EpidemiologyProstate Cancer Treatment and ResearchProstate Cancer Diagnosis and Treatment

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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

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The Profile Study, Schumacher, Fredrick R., Australian Prostate Cancer BioResource (APCB), The IMPACT Study, Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, Cancer of the Prostate in Sweden (CAPS), Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, Al Olama, Ali Amin, Berndt, Sonja I., Benlloch, Sara, Ahmed, Mahbubl, Saunders, Edward J., Dadaev, Tokhir, Leongamornlert, Daniel, Anokian, Ezequiel, Cieza-Borrella, Clara, Goh, Chee, Brook, Mark N., Sheng, Xin, Fachal, Laura, Dennis, Joe, Tyrer, Jonathan, Muir, Kenneth, Lophatananon, Artitaya, Stevens, Victoria L., Gapstur, Susan M., Carter, Brian D., Tangen, Catherine M., Goodman, Phyllis J., Thompson, Ian M., Batra, Jyotsna, Chambers, Suzanne, Moya, Leire, Clements, Judith, Horvath, Lisa, Tilley, Wayne, Risbridger, Gail P., Gronberg, Henrik, Aly, Markus, Nordström, Tobias, Pharoah, Paul, Pashayan, Nora, Schleutker, Johanna, Tammela, Teuvo L. J., Sipeky, Csilla, Auvinen, Anssi, Albanes, Demetrius, Weinstein, Stephanie, Wolk, Alicja, Håkansson, Niclas, West, Catharine M. L., Dunning, Alison M., Burnet, Neil, Mucci, Lorelei A., Giovannucci, Edward, Andriole, Gerald L., Cussenot, Olivier, Cancel-Tassin, Géraldine, Koutros, Stella, Beane Freeman, Laura E., Sorensen, Karina Dalsgaard, Orntoft, Torben Falck, Borre, Michael, Maehle, Lovise, Grindedal, Eli Marie, Neal, David E., Donovan, Jenny L., Hamdy, Freddie C., Martin, Richard M., Travis, Ruth C., Key, Tim J., Hamilton, Robert J., Fleshner, Neil E., Finelli, Antonio, Ingles, Sue Ann, Stern, Mariana C., Rosenstein, Barry S., Kerns, Sarah L., Ostrer, Harry, Lu, Yong-Jie, Zhang, Hong-Wei, Feng, Ninghan, Mao, Xueying, Guo, Xin, Wang, Guomin, Sun, Zan, Giles, Graham G., Southey, Melissa C., MacInnis, Robert J., FitzGerald, Liesel M., Kibel, Adam S., Drake, Bettina F., Vega, Ana, Gómez-Caamaño, Antonio, Szulkin, Robert, Eklund, Martin, Kogevinas, Manolis, Llorca, Javier, Castaño-Vinyals, Gemma, Penney, Kathryn L., Stampfer, Meir, Park, Jong Y., Sellers, Thomas A., Lin, Hui-Yi, Stanford, Janet L., Cybulski, Cezary, Wokolorczyk, Dominika, Lubinski, Jan, Ostrander, Elaine A., Geybels, Milan S., Nordestgaard, Børge G., Nielsen, Sune F., Weischer, Maren, Bisbjerg, Rasmus, Røder, Martin Andreas, Iversen, Peter, Brenner, Hermann, Cuk, Katarina, Holleczek, Bernd, Maier, Christiane, Luedeke, Manuel, Schnoeller, Thomas, Kim, Jeri, Logothetis, Christopher J., John, Esther M., Teixeira, Manuel R., Paulo, Paula, Cardoso, Marta, Neuhausen, Susan L., Steele, Linda, Ding, Yuan Chun, De Ruyck, Kim, De Meerleer, Gert, Ost, Piet, Razack, Azad, Lim, Jasmine, Teo, Soo-Hwang, Lin, Daniel W., Newcomb, Lisa F., Lessel, Davor, Gamulin, Marija, Kulis, Tomislav, Kaneva, Radka, Usmani, Nawaid, Singhal, Sandeep, Slavov, Chavdar, Mitev, Vanio, Parliament, Matthew, Claessens, Frank, Joniau, Steven, Van den Broeck, Thomas, Larkin, Samantha, Townsend, Paul A., Aukim-Hastie, Claire, Gago-Dominguez, Manuela, Castelao, Jose Esteban, Martinez, Maria Elena, Roobol, Monique J., Jenster, Guido, van Schaik, Ron H. N., Menegaux, Florence, Truong, Thérèse, Koudou, Yves Akoli, Xu, Jianfeng, Khaw, Kay-Tee, Cannon-Albright, Lisa, Pandha, Hardev, Michael, Agnieszka, Thibodeau, Stephen N., McDonnell, Shannon K., Schaid, Daniel J., Lindstrom, Sara, Turman, Constance, Ma, Jing, Hunter, David J., Riboli, Elio, Siddiq, Afshan, Canzian, Federico, Kolonel, Laurence N., Le Marchand, Loic, Hoover, Robert N., Machiela, Mitchell J., Cui, Zuxi, Kraft, Peter, Amos, Christopher I., Conti, David V., Easton, Douglas F., Wiklund, Fredrik, Chanock, Stephen J., Henderson, Brian E., Kote-Jarai, Zsofia, Haiman, Christopher A., Eeles, Rosalind A.·2018·Nature Genetics

DOI 10.1038/s41588-018-0142-8PMC PMC6568012

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Abstract

Genome-wide association studies (GWAS) and fine-mapping efforts to date have identified more than 100 prostate cancer (PrCa)-susceptibility loci. We meta-analyzed genotype data from a custom high-density array of 46,939 PrCa cases and 27,910 controls of European ancestry with previously genotyped data of 32,255 PrCa cases and 33,202 controls of European ancestry. Our analysis identified 62 novel loci associated (P < 5.0 × 10-8) with PrCa and one locus significantly associated with early-onset PrCa (≤55 years). Our findings include missense variants rs1800057 (odds ratio (OR) = 1.16; P = 8.2 × 10-9; G>C, p.Pro1054Arg) in ATM and rs2066827 (OR = 1.06; P = 2.3 × 10-9; T>G, p.Val109Gly) in CDKN1B. The combination of all loci captured 28.4% of the PrCa familial relative risk, and a polygenic risk score conferred an elevated PrCa risk for men in the ninetieth to ninety-ninth percentiles (relative risk = 2.69; 95% confidence interval (CI): 2.55-2.82) and first percentile (relative risk = 5.71; 95% CI: 5.04-6.48) risk stratum compared with the population average. These findings improve risk prediction, enhance fine-mapping, and provide insight into the underlying biology of PrCa 1.

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Use of polygenic risk scores to assess weight loss after bariatric surgery: a 5-year follow-up study
Peña, E., Mas-Bermejo, P., Lecube, A., Ciudin, A., Arenas, C., Simó, R., Rigla, M., Caixàs, A., & Rosa, A. (2024) · Journal of Gastrointestinal Surgery · doi:10.1016/j.gassur.2024.05.029 · Cited by 7
“Some studies have shown that PRSs are able to predict disease risk in individuals with disorders with high-impact disease-causing genetic variants, such as breast and prostate cancers and type 1 diabetes mellitus [25–27].”
Deciphering the Causal Relationship between Sodium-glucose Cotransporter 2 Inhibition and Cancer Risks: A Comprehensive Mendelian Randomization Study
Zhang, L., Xue, B., Yu, F., Yin, Y., & Jin, S. (2024) · Journal of Cancer · doi:10.7150/jca.96435 · Cited by 7
Associations between genetically predicted concentrations of plasma proteins and the risk of prostate cancer
Sun, W., Li, H., Shi, W., Lv, Q., & Zhang, W. (2024) · BMC Cancer · doi:10.1186/s12885-024-12659-y · Cited by 7
“The GWAS summary data of PCa were retrieved from the study of PRACTICAL Consortium [14], which meta-analyzed genotype data from 79,148 PCa cases and 61,106 controls of European ancestry.”
Method
Oncogenic regulatory circuits driven by 19q13 rs11672691 underlies prostate cancer aggressiveness
Xia, J., & Wei, G. (2018) · Molecular & Cellular Oncology · doi:10.1080/23723556.2018.1516451 · Cited by 7
Genome-wide association study of germline copy number variations reveals an association with prostate cancer aggressiveness
Brezina, S., Feigl, M., Gumpenberger, T., Staudinger, R., Baierl, A., & Gsur, A. (2020) · Mutagenesis · doi:10.1093/mutage/geaa010 · Cited by 7
A genetic risk assessment for prostate cancer influences patients’ risk perception and use of repeat PSA testing: a cross-sectional study in Danish general practice
Fredsøe, J., Kirkegaard, P., Edwards, A., Vedsted, P., Sørensen, K. D., & Bro, F. (2020) · BJGP Open · doi:10.3399/bjgpopen20x101039 · Cited by 7
A Hierarchical Approach Using Marginal Summary Statistics for Multiple Intermediates in a Mendelian Randomization or Transcriptome Analysis
Jiang, L., Xu, S., Mancuso, N., Newcombe, P. J., & Conti, D. V. (2020) · American Journal of Epidemiology · doi:10.1093/aje/kwaa287 · Cited by 7
Self-citation
Instrumental Heterogeneity in Sex-Specific Two-Sample Mendelian Randomization: Empirical Results From the Relationship Between Anthropometric Traits and Breast/Prostate Cancer
Gao, Y., Zhang, J., Zhao, H., Guan, F., & Zeng, P. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.651332 · Cited by 7
Associations Between Genetically Predicted Plasma N-Glycans and Prostate Cancer Risk: Analysis of Over 140,000 European Descendants
Liu, D., Zhu, J., Zhao, T., Sharapov, S., Tiys, E., & Wu, L. (2021) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s319308 · Cited by 7
“The overall meta summary association statistics as described in Schumacher et al 2018 are available at http://practical.icr.ac.uk/blog/? page_id=8164.”
Method
Clinical Utility of Germline Genetic Testing in Japanese Men Undergoing Prostate Biopsy
Akamatsu, S., Terada, N., Takata, R., Kinoshita, H., Shimatani, K., Momozawa, Y., Yamamoto, M., Tada, H., Kawamorita, N., Narita, S., et al. (2022) · JNCI Cancer Spectrum · doi:10.1093/jncics/pkac001 · Cited by 7
Analysis of Tryptophan and Its Main Metabolite Kynurenine and the Risk of Multiple Cancers Based on the Bidirectional Mendelian Randomization Analysis
Li, R., Wang, X., Zhang, Y., Xu, X., Wang, L., Wei, C., Liu, L., Wang, Z., & Li, Y. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.852718 · Cited by 9
Application of European‐specific polygenic risk scores for predicting prostate cancer risk in different ancestry populations
Ruan, X., Huang, D., Huang, J., Xu, D., & Na, R. (2022) · The Prostate · doi:10.1002/pros.24431 · Cited by 7
Genetically Predicted Circulating Concentrations of Alanine and Alanine Aminotransferase Were Associated with Prostate Cancer Risk
Yang, S., Song, J., Yang, H., Liu, W. Y., Jiang, Y., Sun, X., Ding, Y., Xu, S., & Mao, Y. (2022) · Clinical Epidemiology · doi:10.2147/clep.s382116 · Cited by 7
Self-citation
Genetic proxies for calcium channel blockers and cancer: a Mendelian randomization study
Fan, B., Schooling, C. M., & Zhao, J. V. (2023) · Journal of Human Hypertension · doi:10.1038/s41371-023-00835-9 · Cited by 7
“…Alterations in the Genome consortium (PRACTICAL, 79,148 cases and 61,106 controls, adjusted for principal components and study-relevant covariates) [24], lung cancer from the International Lung Cancer consortium (ILCCO, 11,348 cases and 15,861 controls, adjusted for principal components) [25], and…”
Background
Drug‐target Mendelian randomization revealed a significant association of genetically proxied metformin effects with increased prostate cancer risk
Sun, X., Ping, J., Guo, X., Long, J., Cai, Q., Shu, X., & Shu, X. (2024) · Molecular Carcinogenesis · doi:10.1002/mc.23692 · Cited by 8
“23 In the MR analysis, we evaluated the impact of genetically proxied metformin target ‐ related HbA 1c reduction on prostate cancer risk.”
MethodSelf-citation
Fast and scalable ensemble learning method for versatile polygenic risk prediction
Chen, T., Zhang, H., Mazumder, R., & Lin, X. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2403210121 · Cited by 7
“We used built - in European LD provided from the package GitHub repository, using 1000 Genomes Project for simulations and UK Biobank for real data analysis.”
InfluentialSelf-citation
Post Genome-Wide Gene–Environment Interaction Study Using Random Survival Forest: Insulin Resistance, Lifestyle Factors, and Colorectal Cancer Risk
Jung, S. Y., Papp, J. C., Sobel, E. M., & Zhang, Z. (2019) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-19-0278 · Cited by 7
Broad‐ and narrow‐sense validity performance of three polygenic risk score methods for prostate cancer risk assessment
Yu, H., Shi, Z., Lin, X., Bao, Q., Jia, H., Wei, J., Helfand, B. T., Zheng, S. L., Duggan, D. J., Lu, D., et al. (2019) · The Prostate · doi:10.1002/pros.23920 · Cited by 7
Self-citation
Elucidating the genetic architecture underlying IGF1 levels and its impact on genomic instability and cancer risk
Stankovic, S., Day, F. R., Zhao, Y., Langenberg, C., Wareham, N. J., Perry, J. R. B., & Ong, K. K. (2021) · Wellcome Open Research · doi:10.12688/wellcomeopenres.16417.1 · Cited by 6
Genetic validation of neurokinin 3 receptor antagonists for ischemic heart disease prevention in men – A one-sample Mendelian randomization study
Schooling, C. M. (2022) · EBioMedicine · doi:10.1016/j.ebiom.2022.103901 · Cited by 6
Bayesian analysis of GWAS summary data reveals differential signatures of natural selection across human complex traits and functional genomic categoriesPreprint
Zeng, J., Xue, A., Jiang, L., Lloyd‐Jones, L. R., Wu, Y., Wang, H., Zheng, Z., Yengo, L., Kemper, K. E., Goddard, M. E., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/752527 · Cited by 7
The landscape of interactions between cancer polygenic risk scores and somatic alterations in cancer cellsPreprint
Porta‐Pardo, E., Sayaman, R. W., Ziv, E., & Valencia, A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.09.28.316851 · Cited by 7
“96% with selfreported Hispanic/Latino ancestry; (2) ancestry cluster 2 with African ancestry, capturing of 97.”
Background
Proteome-wide Mendelian randomization identifies causal plasma proteins in prostate cancer development
Wu, J. H., Yang, Z., Ding, J., Hao, S., Chen, H., Jin, K., Zhang, C., & Zheng, X. (2025) · Human Genomics · doi:10.1186/s40246-025-00724-x · Cited by 7
“Associations of the cis-pQTL variants with prostate cancer were studied in summary-level statistics of genome-wide association studies (GWASs) from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium and FinnGen Release 8 [16, 17].”
Gut microbiota, blood metabolites, & pan-cancer: a bidirectional Mendelian randomization & mediation analysis
Luan, B., Yang, Y., Yang, Q., Li, Z., Xu, Z., Chen, Y., Wang, M., Chen, W., & Ge, F. (2025) · AMB Express · doi:10.1186/s13568-025-01866-w · Cited by 6
“1 The flowchart of technical route of this study integrates a meta-analysis encompassing 79,148 prostate cancer (PC) patients and 61,106 controls (Schumacher et al. 2018).”
Integrating Single‐Cell Transcriptome‐Wide Mendelian Randomization and Differentially Expressed Gene Analyses to Prioritize Dynamic Immune‐Related Drug Targets for Cancers
Zheng, J., Yang, Q., Liu, H., Zhao, H., Wang, S., Liu, Y., Wu, X., Ding, Y., Ying, H., Ye, Y., et al. (2025) · Advanced Science · doi:10.1002/advs.202507451 · Cited by 6
Self-citation
5mC and 5hmC methylation sequencing: the power of 6-base sequencing in a multiomic era
Crawford, R., Charlesworth, T., Riffle, S., Yardley, K., & Osborne, R. J. (2025) · Epigenomics · doi:10.1080/17501911.2025.2586452 · Cited by 7
“Though thousands of single nucleotide polymorphisms (SNPs) can be found in these loci, they collectively explain only 28% of the disease’s total familial risk [119–122].”
Artificial Intelligence in Tumor Evolution: Understanding Cancer Complexity Through Multi-Modal Data Integration in Precision Oncology
Espinosa-Sánchez, A., & Carnero, A. (2026) · Cells · doi:10.3390/cells15111031 · Cited by 11
“Poly-genic risk scores (PRS), often calculated using logistic regression or penalized regression such as LASSO, have been applied to stratify populations by breast and prostate cancer risk [161,162].”
An expanded variant list and assembly annotation identifies multiple novel coding and noncoding genes for prostate cancer risk using a normal prostate tissue eQTL data set
DeRycke, M. S., Larson, M. C., Nair, A., McDonnell, S. K., French, A. J., Tillmans, L. S., Riska, S. M., Baheti, S., Fogarty, Z. C., Larson, N. B., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0214588 · Cited by 7
Self-citation
Genome Reporting for Healthy Populations—Pipeline for Genomic Screening from the GENCOV COVID‐19 Study
Frangione, E., Chung, M., Casalino, S., MacDonald, G., Chowdhary, S., Mighton, C. E., Faghfoury, H., Bombard, Y., Strug, L. J., Pugh, T. J., et al. (2022) · Current Protocols · doi:10.1002/cpz1.534 · Cited by 5
“…SNPs), atrial fibrillation (6,730,541 SNPs), coronary artery disease (6,630,150 SNPs; Khera et al., 2018), female breast cancer (3820 SNPs; Mavaddat et al., 2015, Michailidou et al., 2017), colorectal (81 SNPs; Huyghe et al., 2019), and prostate cancer (147 SNPs; Schumacher et al., 2018).”
Background
Absence of causal relationship between Parkinson’s disease and subsequent prostate cancer: evidence from meta-analysis and Mendelian randomization studies
Wang, L., Deng, J.-Y., Fan, X.-Y., Yang, D., Zhu, P.-Y., & Wang, X. (2024) · Frontiers in Oncology · doi:10.3389/fonc.2023.1323812 · Cited by 7
“GWAS data for Pca from Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) Consortium (79,148 cases and 61,106 control cases) (22).”
Background
Mendelian randomization analysis using multiple biomarkers of an underlying common exposure
Jin, J., Qi, G., Yu, Z., & Chatterjee, N. (2024) · Biostatistics · doi:10.1093/biostatistics/kxae006 · Cited by 6
Large-Scale Alternative Polyadenylation-Wide Association Studies to Identify Putative Cancer Susceptibility Genes
Guo, X., Ping, J., Yang, Y., Su, X., Shu, X., Wen, W., Chen, Z., Zhang, Y., Tao, R., Jia, G., et al. (2024) · Cancer Research · doi:10.1158/0008-5472.can-24-0521 · Cited by 6
Self-citation
Causal relationship between folic acid and prostate cancer risk: Insights from Mendelian randomization analysis
Guo, X. C., Zhang, F., & Hao, G. (2024) · International Journal of Urology · doi:10.1111/iju.15565 · Cited by 6
“The outcome data were obtained from a meta-analysis of GWASs conducted by PCa Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium, 10 which included a custom high-density array and data from seven previous GWAS of PCa.”
Self-citation
Whole-exome Sequencing of Prostate Cancer in Sardinian Identify Recurrent UDP-glucuronosyltransferase Amplifications
Zeng, T., Fedeli, M. A., Tanda, F., Wang, Y., Yang, D., Xue, B., Jia, L., Palmieri, G., Sechi, L. A., & Kelvin, D. J. (2020) · Journal of Cancer · doi:10.7150/jca.48433 · Cited by 6
“penetrance loci may account for about 30% of the risk [8, 9].”
Background
RápidoPGS: a rapid polygenic score calculator for summary GWAS data without a test dataset
Reales, G., Vigorito, E., Kelemen, M., & Wallace, C. (2021) · Bioinformatics · doi:10.1093/bioinformatics/btab456 · Cited by 6
SNPxE: SNP-environment interaction pattern identifier
Lin, H., Huang, P., Tseng, T., & Park, J. Y. (2021) · BMC Bioinformatics · doi:10.1186/s12859-021-04326-x · Cited by 7
Self-citation
Do BARD1 Mutations Confer an Elevated Risk of Prostate Cancer?
Stempa, K., Wokołorczyk, D., Kluźniak, W., Rogoża-Janiszewska, E., Malińska, K., Rudnicka, H., Huzarski, T., Gronwald, J., Gliniewicz, K., Dębniak, T., et al. (2021) · Cancers · doi:10.3390/cancers13215464 · Cited by 7
Self-citation
Construction and Clinical Translation of Causal Pan-Cancer Gene Score Across Cancer Types
Tao, S., Ye, X., Pan, L., Fu, M., Huang, P., Peng, Z., & Yang, S. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.784775 · Cited by 6
A microRNA Transcriptome-wide Association Study of Prostate Cancer Risk
Larson, N. B., McDonnell, S. K., Fogarty, Z. C., Liu, Y., French, A. J., Tillmans, L. S., Cheville, J. C., Wang, L., Schaid, D. J., & Thibodeau, S. N. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.836841 · Cited by 6
“miRNA Transcriptome-wide Association Study Our miTWAS was based on PrCa case-control GWAS metaanalysis summary statistics from the PRACTICAL Consortium (Schumacher et al., 2018), downloaded from the PRACTICAL website (http://practical.”
MethodSelf-citation
PRState: Incorporating genetic ancestry in prostate cancer risk scores for men of African ancestry
Pagadala, M. S., Linscott, J. A., Talwar, J. V., Seibert, T. M., Rose, B. S., Lynch, J. A., Panizzon, M. S., Hauger, R. L., Hansen, M. H., Sammon, J. D., et al. (2022) · BMC Cancer · doi:10.1186/s12885-022-10258-3 · Cited by 6
“However, the majority of discovery populations in these GWAS have been of European or Asian ancestry and studies on the role of ancestral genetic background in PrCa risk for other ethnic groups are needed [8, 10, 12, 13].”
Background
Causal Estimation of Long-term Intervention Cost-effectiveness Using Genetic Instrumental Variables: An Application to Cancer
Dixon, P., Martin, R. M., & Harrison, S. (2024) · Medical Decision Making · doi:10.1177/0272989x241232607 · Cited by 6
Self-citation
A west African ancestry‐associated SNP on 8q24 predicts a positive biopsy in African American men with suspected prostate cancer following PSA screening
Gu, J. H., Chery, L. J., Nogueras‐González, G. M., Huff, C. D., Strom, S. S., Jones, J. A., Griffith, D. P., Canfield, S. E., Wang, X., Huang, X., et al. (2024) · The Prostate · doi:10.1002/pros.24686 · Cited by 6
Association between 19 medication use and risk of common cancers: A cross-sectional and Mendelian randomisation study
Yun, Z., Shen, Y., Yan, X. Y., Tian, S., Wang, J., Teo, C. S., Zhao, H., Xue, C., Dong, Q., & Hou, L. (2024) · Journal of Global Health · doi:10.7189/jogh.14.04057 · Cited by 6
“GWAS data for 79 148 cases of prostate cancer were obtained from the Prostate Cancer Association Group to Investigate Cancer-Associated Alterations [29].”
Method
Estimating disorder probability based on polygenic prediction using the BPC approach
Uffelmann, E., Lewis, C. M., McIntosh, A. M., O’Donovan, M. C., Walters, J., Price, A. L., Posthuma, D., & Peyrot, W. J. (2025) · Nature Communications · doi:10.1038/s41467-025-62929-x · Cited by 6
“…namely schizophrenia (SCZ) 18 , major depression (MD) 19 , breast cancer (BC) 20 , coronary artery disease (CAD) 21 , in ﬂ ammatory bowel disease (IBD) 22 , multiple sclerosis (MS) 23 , prostate cancer (PC) 24 , rheumatoid arthritis(RA) 25 , and type 2 diabetes (T2D) 26 (see Table 1).”
Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Liu, J., der Smissen, W. J. C. P., Collée, J. M., Bolla, M. K., Wang, Q., Michailidou, K., Dennis, J., Ahearn, T. U., Aittomäki, K., Ambrosone, C. B., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-65665-y · Cited by 6
Self-citation
Using Genetic Variants to Evaluate the Causal Effect of Plasma Phospholipid Fatty Acids on Breast Cancer and Prostate Cancer: A Mendelian Randomization Study
Yang, Z. R., Li, J., Sun, Y., Qu, Z., Lin, Y., Zhang, L., He, Q., Jia, X., Ahmad, M., Zhang, X., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.664498 · Cited by 6
Semen sampling as a simple, noninvasive surrogate for prostate health screening
Lorente, G., Ntostis, P., Maitland, N. J., Mengual, L., Musquera, M., Muneer, A., Oliva, R., Iles, D., & Miller, D. (2021) · Systems Biology in Reproductive Medicine · doi:10.1080/19396368.2021.1923086 · Cited by 6
“Based on the discovery of alleles that may confer an increased susceptibility to the disease (Schumacher et al. 2018), alternative DNA screening modalities using the saliva have been proposed (Oxtoby”
Background
Current Trends and Approaches to the Search for Genetic Determinants of Aging and Longevity
Станиславовна, К. С., Volobaev, V. P., Plotnikova, M. Y., Kupriyanova, D. A., Kuznetsova, I. L., Tyazhelova, T. V., & Rogaev, E. I. (2022) · Russian Journal of Genetics · doi:10.1134/s1022795422120067 · Cited by 7
Mapping the Germline and Somatic Mutation Interaction Landscape in Indolent and Aggressive Prostate Cancers
Mamidi, T. K. K., Wu, J., & Hicks, C. (2019) · Journal of Oncology · doi:10.1155/2019/4168784 · Cited by 6
Comprehensive Analysis of Multiple Cohort Datasets Deciphers the Utility of Germline Single-Nucleotide Polymorphisms in Prostate Cancer Diagnosis
Zhang, W., Dong, Y., Sartor, O. A., & Zhang, K. (2021) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-20-0534 · Cited by 6
“By 2018, about 140 common risk single-nucleotide polymorphism (SNP) markers for prostate cancer susceptibility, aggressiveness, and mortality have been reported (19, 20).”
Background
Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associationsPreprint
Kar, S., Lindström, S., Hung, R. J., Lawrenson, K., Schmidt, M. K., O’Mara, T. A., Glubb, D. M., Tyrer, J. P., Schildkraut, J. M., Chang-Claude, J. C., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.16.146803 · Cited by 6
Self-citation
Genome-Wide Disease Screening in Early Human Embryos with Primary Template-Directed AmplificationPreprint
Xia, Y., Gonzalez-Pena, V., Klein, D., Luquette, J., Puzon, L., Siddiqui, N., Reddy, V., Park, P. J., Behr, B. R., & Gawad, C. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.07.06.451077 · Cited by 6
Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancersPreprint
Thompson, D. J., Genovese, G., Halvardson, J., Ulirsch, J. C., Wright, D. J., Terao, C., Davidsson, O. B., Day, F. R., Sulem, P., Jiang, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/514026 · Cited by 7
Self-citation
Evaluation of polygenic scoring methods in five biobanks reveals greater variability between biobanks than between methods and highlights benefits of ensemble learningPreprint
Monti, R., Eick, L., Hudjashov, G., Läll, K., Kanoni, S., Wolford, B. N., Wingfield, B., Pain, O., Wharrie, S., Jermy, B. S., et al. (2023) · medRxiv · doi:10.1101/2023.11.20.23298215 · Cited by 6
Identifying Patients at Risk of Early Lethal Prostate Cancer by Integrating Family History, Polygenic Risk Score, Rare Variants in DNA Repair Genes, and Lifestyle Factors
Zhang, Z., Zhang, Y., Stopsack, K. H., Kibel, A. S., Giovannucci, E. L., Penney, K. L., Wang, A., Vijai, J., Kantoff, P. W., Pomerantz, M. M., et al. (2025) · European Urology Oncology · doi:10.1016/j.euo.2025.03.008 · Cited by 5
Self-citation

Authors: Study, T. P., Schumacher, F. R., (APCB), A. P. C. B., Study, T. I., Canary PASS Investigators, Breast and Prostate Cancer Cohort Consortium (BPC3), The PRACTICAL (Prostate Cancer Association Group to Investigate Cancer-Associated Alterations in the Genome) Consortium, (CAPS), C. O. T. P. I. S., Prostate Cancer Genome-wide Association Study of Uncommon Susceptibility Loci (PEGASUS), The Genetic Associations and Mechanisms in Oncology (GAME-ON)/Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium, Al Olama, A. A., Berndt, S. I., Benlloch, S., Ahmed, M., Saunders, E. J., Dadaev, T., Leongamornlert, D., Anokian, E., Cieza-Borrella, C., Goh, C., Brook, M. N., Sheng, X., Fachal, L., Dennis, J., Tyrer, J., Muir, K., Lophatananon, A., Stevens, V. L., Gapstur, S. M., Carter, B. D., Tangen, C. M., Goodman, P. J., Thompson, I. M., Batra, J., Chambers, S., Moya, L., Clements, J., Horvath, L., Tilley, W., Risbridger, G. P., Gronberg, H., Aly, M., Nordström, T., Pharoah, P., Pashayan, N., Schleutker, J., Tammela, T. L. J., Sipeky, C., Auvinen, A., Albanes, D., Weinstein, S., Wolk, A., Håkansson, N., West, C. M. L., Dunning, A. M., Burnet, N., Mucci, L. A., Giovannucci, E., Andriole, G. L., Cussenot, O., Cancel-Tassin, G., Koutros, S., Beane Freeman, L. E., Sorensen, K. D., Orntoft, T. F., Borre, M., Maehle, L., Grindedal, E. M., Neal, D. E., Donovan, J. L., Hamdy, F. C., Martin, R. M., Travis, R. C., Key, T. J., Hamilton, R. J., Fleshner, N. E., Finelli, A., Ingles, S. A., Stern, M. C., Rosenstein, B. S., Kerns, S. L., Ostrer, H., Lu, Y.-J., Zhang, H.-W., Feng, N., Mao, X., Guo, X., Wang, G., Sun, Z., Giles, G. G., Southey, M. C., MacInnis, R. J., FitzGerald, L. M., Kibel, A. S., Drake, B. F., Vega, A., Gómez-Caamaño, A., Szulkin, R., Eklund, M., Kogevinas, M., Llorca, J., Castaño-Vinyals, G., Penney, K. L., Stampfer, M., Park, J. Y., Sellers, T. A., Lin, H.-Y., Stanford, J. L., Cybulski, C., Wokolorczyk, D., Lubinski, J., Ostrander, E. A., Geybels, M. S., Nordestgaard, B. G., Nielsen, S. F., Weischer, M., Bisbjerg, R., Røder, M. A., Iversen, P., Brenner, H., Cuk, K., Holleczek, B., Maier, C., Luedeke, M., Schnoeller, T., Kim, J., Logothetis, C. J., John, E. M., Teixeira, M. R., Paulo, P., Cardoso, M., Neuhausen, S. L., Steele, L., Ding, Y. C., De Ruyck, K., De Meerleer, G., Ost, P., Razack, A., Lim, J., Teo, S.-H., Lin, D. W., Newcomb, L. F., Lessel, D., Gamulin, M., Kulis, T., Kaneva, R., Usmani, N., Singhal, S., Slavov, C., Mitev, V., Parliament, M., Claessens, F., Joniau, S., Van den Broeck, T., Larkin, S., Townsend, P. A., Aukim-Hastie, C., Gago-Dominguez, M., Castelao, J. E., Martinez, M. E., Roobol, M. J., Jenster, G., van Schaik, R. H. N., Menegaux, F., Truong, T., Koudou, Y. A., Xu, J., Khaw, K.-T., Cannon-Albright, L., Pandha, H., Michael, A., Thibodeau, S. N., McDonnell, S. K., Schaid, D. J., Lindstrom, S., Turman, C., Ma, J., Hunter, D. J., Riboli, E., Siddiq, A., Canzian, F., Kolonel, L. N., Le Marchand, L., Hoover, R. N., Machiela, M. J., Cui, Z., Kraft, P., Amos, C. I., Conti, D. V., Easton, D. F., Wiklund, F., Chanock, S. J., Henderson, B. E., Kote-Jarai, Z., Haiman, C. A., & Eeles, R. A.
Affiliations: Case Western Reserve University (US)
University of Cambridge (GB)
Division of Cancer Epidemiology and Genetics (US)
Institute of Cancer Research (GB)
University of Manchester (GB)
American Cancer Society (US)
Griffith University (AU)
Translational Research Institute (AU)
Garvan Institute of Medical Research (AU)
Karolinska University Hospital (SE)
University of Turku (FI)
Tampere University (FI)
Karolinska Institutet (SE)
Uppsala University (SE)
Harvard University (US)
Washington University in St. Louis (US)
Aarhus University Hospital (DK)
Oslo University Hospital (NO)
Aarhus University (DK)
Princess Margaret Cancer Centre (CA)
University of Oxford (GB)
Albert Einstein College of Medicine (US)
Queen Mary University of London (GB)
Second Military Medical University (CN)
Nanjing Medical University (CN)
Shanghai Medical College of Fudan University (CN)
Cancer Council Victoria (AU)
Brigham and Women's Hospital (US)
The University of Melbourne (AU)
Monash Health (AU)
University of Tasmania (AU)
Universitat Pompeu Fabra (ES)
Fundación Pública Galega de Medicina Xenómica (ES)
Universidad de Cantabria (ES)
Moffitt Cancer Center (US)
National Institutes of Health (US)
University of Washington (US)
University of Copenhagen (DK)
Copenhagen University Hospital (DK)
German Cancer Research Center (DE)
Herlev Hospital (DK)
The University of Texas MD Anderson Cancer Center (US)
Cancer Prevention Institute of California (US)
Universidade do Porto (PT)
Instituto Português de Oncologia Francisco Gentil (PT)
Ghent University (BE)
Ghent University Hospital (BE)
University of Malaya (MY)
University Hospital Centre Zagreb (HR)
University of Alberta (CA)
Alexandrovska Hospital (BG)
Southampton General Hospital (GB)
University of Surrey (GB)
Universitair Ziekenhuis Leuven (BE)
Manchester Academic Health Science Centre (GB)
Inserm (FR)
Endeavor Health (US)
Mayo Clinic (US)
USC Norris Comprehensive Cancer Center (US)
Dartmouth College (US)
Royal Marsden NHS Foundation Trust (GB)
Corresponding author: Schumacher, Fredrick R.
Eeles, Rosalind A.
ORCID: Schumacher, Fredrick R.
Berndt, Sonja I.
Ahmed, Mahbubl
Saunders, Edward J.
Dadaev, Tokhir
Leongamornlert, Daniel
Anokian, Ezequiel
Cieza-Borrella, Clara
Goh, Chee
Brook, Mark N.
Sheng, Xin
Fachal, Laura
Dennis, Joe
Tyrer, Jonathan
Muir, Kenneth
Lophatananon, Artitaya
Stevens, Victoria L.
Gapstur, Susan M.
Carter, Brian D.
Tangen, Catherine M.
Goodman, Phyllis J.
Thompson, Ian M.
Batra, Jyotsna
Chambers, Suzanne
Moya, Leire
Clements, Judith
Horvath, Lisa
Tilley, Wayne
Risbridger, Gail P.
Aly, Markus
Nordström, Tobias
Pharoah, Paul
Pashayan, Nora
Schleutker, Johanna
Tammela, Teuvo L. J.
Sipeky, Csilla
Auvinen, Anssi
Albanes, Demetrius
Weinstein, Stephanie
Wolk, Alicja
Håkansson, Niclas
West, Catharine M. L.
Dunning, Alison M.
Burnet, Neil
Mucci, Lorelei A.
Giovannucci, Edward
Andriole, Gerald L.
Cussenot, Olivier
Koutros, Stella
Borre, Michael
Grindedal, Eli Marie
Neal, David E.
Donovan, Jenny L.
Hamdy, Freddie C.
Martin, Richard M.
Travis, Ruth C.
Hamilton, Robert J.
Fleshner, Neil E.
Finelli, Antonio
Ingles, Sue Ann
Stern, Mariana C.
Rosenstein, Barry S.
Kerns, Sarah L.
Lu, Yong-Jie
Zhang, Hong-Wei
Feng, Ninghan
Mao, Xueying
Wang, Guomin
Giles, Graham G.
Southey, Melissa C.
MacInnis, Robert J.
FitzGerald, Liesel M.
Kibel, Adam S.
Drake, Bettina F.
Vega, Ana
Szulkin, Robert
Eklund, Martin
Kogevinas, Manolis
Llorca, Javier
Penney, Kathryn L.
Stampfer, Meir
Park, Jong Y.
Sellers, Thomas A.
Lin, Hui-Yi
Stanford, Janet L.
Cybulski, Cezary
Ostrander, Elaine A.
Nordestgaard, Børge G.
Nielsen, Sune F.
Weischer, Maren
Bisbjerg, Rasmus
Røder, Martin Andreas
Iversen, Peter
Brenner, Hermann
Holleczek, Bernd
Kim, Jeri
Logothetis, Christopher J.
John, Esther M.
Teixeira, Manuel R.
Paulo, Paula
Cardoso, Marta
Neuhausen, Susan L.
Steele, Linda
Ding, Yuan Chun
Ost, Piet
Razack, Azad
Lim, Jasmine
Teo, Soo-Hwang
Lin, Daniel W.
Lessel, Davor
Gamulin, Marija
Kaneva, Radka
Usmani, Nawaid
Singhal, Sandeep
Slavov, Chavdar
Mitev, Vanio
Parliament, Matthew
Claessens, Frank
Joniau, Steven
Townsend, Paul A.
Castelao, Jose Esteban
Roobol, Monique J.
Jenster, Guido
van Schaik, Ron H. N.
Truong, Thérèse
Xu, Jianfeng
Khaw, Kay-Tee
Pandha, Hardev
Michael, Agnieszka
Thibodeau, Stephen N.
McDonnell, Shannon K.
Schaid, Daniel J.
Turman, Constance
Ma, Jing
Siddiq, Afshan
Canzian, Federico
Kolonel, Laurence N.
Hoover, Robert N.
Machiela, Mitchell J.
Cui, Zuxi
Kraft, Peter
Amos, Christopher I.
Conti, David V.
Easton, Douglas F.
Wiklund, Fredrik
Chanock, Stephen J.
Haiman, Christopher A.
Eeles, Rosalind A.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2018-06-11
Volume: 50
Issue: 7
Pages: 928-936
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/s41588-018-0142-8
PMC: PMC6568012
OpenAlex: W2806504012
Cited by: 902
References: 65
Citations by year: 2026: 53 · 2025: 96 · 2024: 133 · 2023: 123 · 2022: 151 · 2021: 132 · 2020: 104 · 2019: 79 · 2018: 30
FWCI: 52.93
Type: journal article
Language: en
Update notices: correction (2019-01-08)
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
St George's Online Research Archive (St George's University of London) (acceptedVersion)
QUT ePrints (Queensland University of Technology) (submittedVersion)
Surrey Research Insight Open Access (The University of Surrey) (submittedVersion)
Civil War Book Review (submittedVersion)
eCite Digital Repository (University of Tasmania) (submittedVersion)
UTAS Research Repository (submittedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
HAL (submittedVersion, other-oa)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
UCL Discovery (University College London) (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
Figshare (submittedVersion)
Lirias (submittedVersion)
UTS ePRESS (University of Technology Sydney) (submittedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Bristol Research (University of Bristol) (submittedVersion, other-oa)
Griffith Research Online (submittedVersion)
Spiral (Imperial College London) (submittedVersion)
Apollo (University of Cambridge) (submittedVersion)
Apollo
Funders: U.S. Department of Defense (C5047/A10692, C1287/A10118, C5047/A7357, W81XWH, C1287/A16563, C8197/A16565, C1281/A12014, C5047/A8384, C12292/A11174, C5047/A15007, CA128978, W81XWH1010341, 223175)
Cancer Research Institute
Prostate Cancer Foundation
Breast Cancer Research Foundation (C5047/A10692, C5047/A15007, C1287/A10118, CA128978, 209057, C1287/A16563, W81XWH-10-1-0341, C8197/A16565, C5047/A8384, C1281/A12014, 396414, C12292/A11174, HEALTH-F2-2009-223175)
Ovarian Cancer Research Fund (W81XWH-10-1-0341, C1281/A12014, C1287/A10118, C8197/A16565, C12292/A11174, CA128978, C5047/A10692, C5047/A15007, C1287/A16563, C5047/A8384, HEALTH-F2-2009-223175)
University of Southern California (C1281/A12014, C5047/A10692, C8197/A16565, C1287/A10118, C12292/A11174, C5047/A8384, W81XWH-10-1-0341, C5047/A15007, CA128978, C1287/A16563, HEALTH-F2-2009-223175)
Aarhus Universitet
Aarhus Universitetshospital
Case Western Reserve University
Harvard T.H. Chan School of Public Health
Institut for Klinisk Medicin, Aarhus Universitet
National Cancer Research Institute
Royal Marsden NHS Foundation Trust
Australian Prostate Cancer Research
Cancer Research UK (C8197/A16565’, 223175, C1281/A12014, 10119, C5047/A7357, C5047/A15007’, C1287‐A10118, 12014, HEALTHF2-2009-223175, C5047/A3354, 21332, 16561, 16565, C12292/A11174, ‘C5047/A10692, 15007, C1287, C5047/A8384, 10118, 14136, 16563, 18504, 16491, 17528, C16913-A6135, CA128978, A16563, 19169, C1287-A10710, W81XWH-10-1-0341, C1287‐A16563, C1281)
National Institute for Health and Care Research (C5047/A15007, W81XWH-10-1-0341, NF-SI-0510-10096, C8197/A16565, HEALTH-F2-2009-223175, NF-SI-0509-10242, CA128978, C1287/A10118, C1281/A12014, NF-SI-0512-10114, C5047/A10692, NF-SI-0513-10121, C1287/A16563, C12292/A11174, C5047/A8384)
University of Cambridge
University of Warwick
University College London
University of Oxford
European Commission (C1287/A10118, W81XWH-10-1-0341, C1281/A12014, C1287/A16563, C5047/A10692, C5047/A8384, C12292/A11174, C5047/A15007, C8197/A16565, CA128978, 223175)
University of Bristol
Prostate Cancer Foundation of Australia
Monash University
Griffith University
Queensland University of Technology
Cambridge University Hospitals
Karolinska Institutet (W81XWH-10-1-0341, C1281/A12014, C1287/A10118, HEALTH-F2-2009-223175, C1287/A16563, CA128978, C5047/A8384, C5047/A10692, C12292/A11174, C8197/A16565, C5047/A15007)
Peter MacCallum Cancer Centre
Tampereen Yliopisto
Turun Yliopisto
Uppsala Universitet
Tays
Turun Yliopistollinen Keskussairaala
National Institutes of Health (C1281/A12014, 223175, W81XWH-10-1-0341, C8197/A16565, C5047/A7357, C12292/A11174, C1287/A16563, W81XWH, C1287/A10118, HHSN268201200008I, C5047/A10692, HEALTH-F2-2009-223175, C5047/A15007, C5047/A8384, X01HG007492)
Canadian Institutes of Health Research (C5047/A8384, C5047/A15007, C5047/A10692, C1287/A10118, C1287/A16563, CA128978, C8197/A16565, C1281/A12014, C12292/A11174, W81XWH-10-1-0341, HEALTH-F2-2009-223175, 223175)
Medical Research Council (C12292/A11174, C1281/A12014, CA128978, C5047/A8384, HEALTH-F2-2009-223175, C8197/A16565, W81XWH-10-1-0341, C1287/A16563, C5047/A10692, MR/N003284/1, C1287/A10118, C5047/A15007)
National Health and Medical Research Council (623204, 504702, 126402, 614296, 251533, 504700, 504715)
Cancer Council Victoria (C1287/A16563, C1287/A10118, C8197/A16565, HEALTH-F2-2009-223175, C1281/A12014, C5047/A15007, C12292/A11174, W81XWH-10-1-0341, CA128978, C5047/A10692, C5047/A8384)
Cancer Council Queensland
Warwick Medical School
Servicio Gallego de Salud
Monash Biomedicine Discovery Institute, Monash University
National Heart, Lung, and Blood Institute (HHSN268201200008I, HHSN268201200008C)
National Cancer Institute (R01CA128978, U01CA188392, C5047/A15007, C5047/A10692, C5047/A8384, U19CA148065, HEALTH-F2-2009-223175, W81XWH-10-1-0341, UM1CA182883, UG1CA189974, U01CA098710, U19CA148537, K05CA175147, CA148065, U01CA098216, C1281/A12014, C12292/A11174, U01CA098758, U19CA148112, (CA128978, C1287/A16563, K07CA187546, C1287/A10118, C8197/A16565, U01CA098233, U10CA037429)
Division of Cancer Epidemiology and Genetics, National Cancer Institute
DOD Prostate Cancer Research Program
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Prostate Cancer Treatment and Research
Health Sciences › Medicine › Urology › Prostate Cancer Diagnosis and Treatment
Keywords: prostate cancer, cancer susceptibility loci, genetic association, early-onset prostate cancer, polygenic risk score, ATM, p27, European ancestry, risk prediction, fine mapping
MeSH terms: Genotype, Humans, Male, Prostatic Neoplasms, Risk, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci

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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

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