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Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Open accessAbstract
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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“For example, polygenic risk scores alone already predict breast cancer, prostate cancer, and type 1 diabetes risk in European descent patients more accurately than current clinical models2–4.”
From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [3]
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MethodCalibrated prediction intervals for polygenic scores across diverse contexts
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Self-citationA Healthy Lifestyle in Men at Increased Genetic Risk for Prostate Cancer
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Self-citationJiang, X., Dimou, N. L., Al-Dabhani, K. M., Lewis, S. J., Martin, R. M., Haycock, P., Gunter, M. J., Key, T. J., Eeles, R. A., Muir, K. R., et al. (2018) · International Journal of Epidemiology · doi:10.1093/ije/dyy284 · Cited by 66
Self-citationEthnic disparities among men with prostate cancer undergoing germline testing
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“Genome-wide association studies have identified over 140 common variants of loci that confer a slightly increased risk of prostate cancer, generally in a polygenic risk model, and explain 28% of excess familial prostate cancer risk [3,4], some of which may have an active role in tumorigenesis [5].”
BackgroundEvaluation of a Multiethnic Polygenic Risk Score Model for Prostate Cancer
Plym, A., Penney, K. L., Kalia, S. S., Kraft, P., Conti, D. V., Haiman, C. A., Mucci, L. A., & Kibel, A. S. (2021) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djab058 · Cited by 64
“variants independently associated with prostate cancer risk (1-3).”
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“Owing to the targeted nature of the sequencing data, ancestry QC was augmented with additional QC data from the OncoArray platform [16].”
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“Genetic associations with prostate cancer SNP associations for prostate cancer were obtained from the PRACTICAL and GAME-ON/ELLIPSE consortia, 10,11 which currently do not include UK Biobank data.”
InfluentialSelf-citationThompson, M., Hill, B. L., Rakocz, N., Chiang, J. N., Geschwind, D. H., Sankararaman, S., Hofer, I. S., Cannesson, M. P., Zaitlen, N., & Halperin, E. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00320-1 · Cited by 59
“For example, recent work has shown that 29 machine learning can leverage high-dimensional data to aid in the prediction of a multitude of clinical 30 phenotypes including cardiac function and arrhythmia [19–21], post-operative complications [8, 9], sepsis 31 [22], breast cancer [11, 23], and prostate cancer [24].”
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Self-citationThe landscape of RNA polymerase II–associated chromatin interactions in prostate cancer
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“In this study, we applied drug target MR to investigate the association between genetically proxied LDL-c lowering medications and risk of total, advanced, and early-onset prostate cancer using data from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consor…”
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“Genetic variants of A4GALT are associated with platelet distribution [46], prostate cancer [47], red blood cell count [48], monocyte count [48], and hemoglobin concentration [48].”
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Sipeky, C., Talala, K. M., Tammela, T. L. J., Taari, K., Auvinen, A. P., & Schleutker, J. (2020) · Scientific Reports · doi:10.1038/s41598-020-74172-z · Cited by 55
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Self-citationAdvances in Prostate Cancer Biomarkers and Probes
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Genetic discovery and risk characterization in type 2 diabetes across diverse populations
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Self-citationOn cross-ancestry cancer polygenic risk scores
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“So, while PRS that rely on EUR-based GWAS were reported to be not ideal for non-EUR groups, they can be useful for risk stratification also in non-EUR groups.”
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A tool for translating polygenic scores onto the absolute scale using summary statistics
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MOB (Mps one Binder) Proteins in the Hippo Pathway and Cancer
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BackgroundProstate cancer polygenic risk score and prediction of lethal prostate cancer
Klein, R. J., Vertosick, E., Sjoberg, D., Ulmert, D., Rönn, A., Häggström, C., Thysell, E., Hallmans, G., Dahlin, A., Stattin, P. E., et al. (2022) · npj Precision Oncology · doi:10.1038/s41698-022-00266-8 · Cited by 51
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“To place our results in context of the findings from a recent large-scale genome-wide association study, we compared our results with those from the PRACTICAL consortium, which analyzed >140 000 cases and controls and had 20 370 946 genotyped or high-quality imputed variants [19].”
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Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives
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Current clinical use of polygenic scores will risk exacerbating health disparities
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“The SNP-prostate cancer risk estimates were obtained from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium, which included genomic data of 79,148 European prostate cancer cases and 61,106 European controls [18].”
MethodBreeze, C. E., Haugen, E., Gutiérrez‐Arcelus, M., Yao, X., Teschendorff, A. E., Beck, S., Dunham, I., Stamatoyannopoulos, J. A., Franceschini, N., Machiela, M. J., et al. (2024) · Genome biology · doi:10.1186/s13059-023-03126-1 · Cited by 45
Self-citationA genome‐wide association study of prostate cancer in Latinos
Du, Z., Hopp, H., Ingles, S. A., Huff, C. D., Sheng, X., Weaver, B., Stern, M. C., Hoffmann, T. J., John, E. M., Eeden, S. K. V. D., et al. (2019) · International Journal of Cancer · doi:10.1002/ijc.32525 · Cited by 43
“Previous GWAS studies of PrCa have identified more than 170 common risk variants, with the majority of discovery populations being of European or Asian ancestry.(28,30) As found in previous studies in men of African ancestry,(16) directional consistency was also observed for the majority (>80%) of risk variants in Lat…”
BackgroundSelf-citationOng, J., Law, M. H., An, J., Han, X., Gharahkhani, P., Whiteman, D. C., Neale, R. Ε., & MacGregor, S. (2019) · International Journal of Epidemiology · doi:10.1093/ije/dyz144 · Cited by 42
Monitoring the impacts of cultivated land quality on crop production capacity in arid regions
Zhuang, Q., Wu, S., Huang, X., Kong, L., Yan, Y., Xiao, H., Li, Y., & Cai, P. (2022) · CATENA · doi:10.1016/j.catena.2022.106263 · Cited by 41
Prostate Cancer: Genetics, Epigenetics and the Need for Immunological Biomarkers
Альбертовна, Р. Г., Gilyazova, I. R., Enikeeva, K., Павлов, В. Н., & Kzhyshkowska, J. G. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241612797 · Cited by 42
Monti, R., Eick, L., Hudjashov, G., Läll, K., Kanoni, S., Wolford, B. N., Wingfield, B., Pain, O., Wharrie, S., Jermy, B. S., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.06.003 · Cited by 52
Harlemon, M. S., Ajayi, O., Kachambwa, P., Kim, M. S., Simonti, C., Quiver, M. H., Petersen, D. C., Mittal, A., Fernandez, P. W., Hsing, A. W., et al. (2020) · Cancer Research · doi:10.1158/0008-5472.can-19-2165 · Cited by 42
“In recent years, multiple genome-wide association studies (GWAS) 105 have detected genetic associations with CaP (8-11).”
BackgroundInfluentialGALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease
Senkevich, K., Zorca, C. E., Dworkind, A., Rudakou, U., Somerville, E., Yu, E., Ermolaev, A., Nikanorova, D., Ahmad, J., Ruskey, J. A., et al. (2023) · Brain · doi:10.1093/brain/awac413 · Cited by 40
“tify these variants and genes and provide evidence for potential mechanisms.(6,7) There is mounting evidence about the role of lysosomal dysregulation in PD.”
BackgroundSeviiri, M., Law, M. H., Ong, J., Gharahkhani, P., Fontanillas, P., Aslibekyan, S. W., Auton, A., Babalola, E., Bell, R. K., Bielenberg, J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-35345-8 · Cited by 44
Yang, X., Kar, S., Antoniou, A. C., & Pharoah, P. D. P. (2023) · Nature reviews. Cancer · doi:10.1038/s41568-023-00599-x · Cited by 45
Self-citationHomeobox B13 G84E Mutation and Prostate Cancer Risk
Nyberg, T., Govindasami, K., Leslie, G., Dadaev, T., Bancroft, E. K., Raghallaigh, H. N., Brook, M. N., Hussain, N., Keating, D., Lee, A., et al. (2018) · European Urology · doi:10.1016/j.eururo.2018.11.015 · Cited by 41
Self-citationBenafif, S., Raghallaigh, H. N., McGrowder, E. H., Saunders, E. J., Brook, M. N., Saya, S., Rageevakumar, R., Wakerell, S., James, D., Chamberlain, A., et al. (2021) · British Journal of Urology · doi:10.1111/bju.15535 · Cited by 42
Self-citationConstructing germline research cohorts from the discarded reads of clinical tumor sequences
Gusev, A., Groha, S., Taraszka, K., Semenov, Y. R., & Zaitlen, N. (2021) · Genome Medicine · doi:10.1186/s13073-021-00999-4 · Cited by 33
“Studies used included breast cancer [38], glioma [39], non-small cell lung cancer [40], ovarian cancer [41], prostate cancer [42], and melanoma [43] from case-control GWAS data, as well as smoking, skin pigmentation, and tanning ability from the UK Biobank cohort analysis [44].”
MethodCan polygenic risk scores contribute to cost-effective cancer screening? A systematic review
Dixon, P., Keeney, E., Taylor, J. C., Wordsworth, S., & Martin, R. M. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.04.020 · Cited by 41
“Callender et al 9 used data from Schumacher et al 42 and Dadaev et al. 43 Percentile ranks associated with relative risk or absolute risk were obtained given knowledge of the mean and variance of the log-normal relative risk distribution.”
Self-citationGermline mutations in prostate cancer: a systematic review of the evidence for personalized medicine
Marino, F., Totaro, A., Gandi, C., Bientinesi, R., Moretto, S., Gavi, F., Pierconti, F., Iacovelli, R., Bassi, P., & Sacco, E. (2022) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-022-00609-3 · Cited by 43
“In detail, men with BRCA1/BRCA2 alterations had the highest response rate of 83.3% (25 of 30 patients: 95% CI 65.3 to 94.4%).”
BackgroundInfluentialAssessing the role of cortisol in cancer: a wide-ranged Mendelian randomisation study
Larsson, S. C., Lee, W., Kar, S., Burgess, S., & Allara, E. (2021) · British Journal of Cancer · doi:10.1038/s41416-021-01505-8 · Cited by 39
Miyahira, A. K., Sharp, A., Ellis, L., Jones, J. C., Kaochar, S., Larman, H. B., Quigley, D. A., Ye, H., Simons, J. W., Pienta, K. J., et al. (2019) · The Prostate · doi:10.1002/pros.23934 · Cited by 40
de Villiers, C. B., Kroese, M., & Moorthie, S. A. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106763 · Cited by 41
Larsson, S. C., Mason, A. M., Kar, S., Vithayathil, M. K., Carter, P., Baron, J. A., Michaëlsson, K., & Burgess, S. (2020) · BMC Medicine · doi:10.1186/s12916-020-01839-9 · Cited by 39
Saunders, E. J., Kote‐Jarai, Z., & Eeles, R. A. (2021) · Cancers · doi:10.3390/cancers13040760 · Cited by 38
Self-citationHuynh‐Le, M., Karunamuni, R. A., Fan, C. C., Lui, A. J., Thompson, W. K., Martı́nez, M. E., Eeles, R. A., Kote‐Jarai, Z., Muir, K. R., Lophatananon, A., et al. (2022) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-022-00497-7 · Cited by 37
“Recent meta-analyses have identified over 200 SNPs associated with prostate cancer, including some identified through subset analyses in men of non-European ancestry [11, 12].”
Self-citationYarmolinsky, J., Bouras, E., Constantinescu, A., Burrows, K., Bull, C. J., Vincent, E. E., Martin, R. M., Dimopoulou, O., Lewis, S. J., Moreno, V. R., et al. (2023) · Diabetologia · doi:10.1007/s00125-023-05925-4 · Cited by 38
“metastatic disease, Gleason score ≥8, prostate-specific antigen >100 or prostate cancer-related death) in up to 79,148 cases and 61,106 controls were obtained from the Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL) consortium [31].”
MethodSelf-citationDong, Z., Xu, M., Sun, X., & Wang, X. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04357-3 · Cited by 36
Ólafsdóttir, Þ., Þorleifsson, G., Sulem, P., Stefánsson, Ó. A., Medek, H., Olafsson, K., Ingthorsson, O., Gudmundsson, V., Jónsdóttir, I., Halldorsson, G. H., et al. (2020) · Communications Biology · doi:10.1038/s42003-020-0857-9 · Cited by 39
Lesseur, C., Ferreiro-Iglesias, A., McKay, J., Bossé, Y., Johansson, M., Gaborieau, V., Landi, M. T., Christiani, D. C., Caporaso, N. E., Bojesen, S. E., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009254 · Cited by 36
“Intriguingly, rs4245739 [C] has also been associated with reduced prostate cancer risk (Europeans) [34] and lower risk of all cancers in Asians [35,36].”
BackgroundSelf-citationGrishin, D., & Gusev, A. (2022) · Nature Genetics · doi:10.1038/s41588-022-01075-2 · Cited by 35
Kim, M. S., Naidoo, D., Hazra, U., Quiver, M. H., Chen, W. C., Simonti, C., Kachambwa, P., Harlemon, M. S., Agalliu, I., Baichoo, S., et al. (2022) · Genome biology · doi:10.1186/s13059-022-02766-z · Cited by 37
“2 (rs61088131 and rs11672691, detected in European cohorts [38, 46]).”
BackgroundSelf-citationAdvances in nanomaterial-based immunosensors for prostate cancer screening
Khan, R. S., Arshad, F., Hassan, I. U., Naikoo, G. A., Pedram, M. Z., Zedegan, M. S., Pourfarzad, H., Aljabali, A. A. A., Serrano‐Aroca, Á., Haggag, Y. A., et al. (2022) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2022.113649 · Cited by 37
Validation of a prostate cancer polygenic risk score
Black, M. H., Li, S., LaDuca, H., Lo, M., Chen, J., Hoiness, R., Gutierrez, S., Davis, B. T., Lu, H., Gielzak, M., et al. (2020) · The Prostate · doi:10.1002/pros.24058 · Cited by 35
“86, despite differences in the number of SNPs included in each PRS model.(14,15) Moreover, Sun et al(10) reported superior predictive performance of the PRS compared with FH alone, and demonstrated that the addition of FH information to the PRS model did not further improve prediction of PrCa.”
BackgroundResultSelf-citationHe, J., Wen, W., Beeghly, A., Chen, Z., Cao, C., Shu, X., Zheng, W., Long, Q., & Guo, X. (2022) · Nature Communications · doi:10.1038/s41467-022-34888-0 · Cited by 35
Self-citationPrivé, F. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac348 · Cited by 33
Integrative analysis of clinical and epigenetic biomarkers of mortality
Huan, T., Nguyen, S., Colicino, E., Ochoa‐Rosales, C., Hill, W. D., Brody, J. A., Soerensen, M., Zhang, Y., Baldassari, A., Elhadad, M. A., et al. (2022) · Aging Cell · doi:10.1111/acel.13608 · Cited by 25
“…et al., 2013 ); systolic blood pressure (SBP) and diastolic blood pressure (DBP) (Evangelou et al., 2018 ), and cancer types including breast cancer (Michailidou et al., 2017 ), prostate cancer (Schumacher et al., 2018 ), lung cancer (Wang et al., 2014) and ovarian cancer (Phelan et al., 2017 ).”
BackgroundSelf-citationProteome-wide mendelian randomization study implicates therapeutic targets in common cancers
Ren, F., Jin, Q., Liu, T., Xuelei, R., & Zhan, Y. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04525-5 · Cited by 36
“This dataset included 79,148 PCa cases and 61,106 controls [21].”
BackgroundA Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data
Huynh‐Le, M., Fan, C. C., Karunamuni, R. A., Walsh, E. I., Turner, E. L., Lane, J. A., Martin, R. M., Neal, D. E., Donovan, J., Hamdy, F. C., et al. (2020) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-19-1527 · Cited by 35
“Finally, there are now over 140 SNPs reported to have associations with prostate cancer, identified using ameta-analysis that included ProtecT data (41), but not all of these SNPs are represented on the custom array used to develop the original PHS.”
MethodSelf-citationSerum Uric Acid Levels and Risk of Eight Site-Specific Cancers: A Mendelian Randomization Study
Jiang, M., Ren, L., Chen, S., & Li, G. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.608311 · Cited by 35
Nyberg, T., Brook, M. N., Ficorella, L., Lee, A., Dennis, J., Yang, X., Wilcox, N., Dadaev, T., Govindasami, K., Lush, M. J., et al. (2022) · Journal of Clinical Oncology · doi:10.1200/jco.22.01453 · Cited by 39
“This is explained in part by rare pathogenic variants (PVs) in BRCA2, HOXB13, and possibly BRCA1, which are associated with moderateto-high PCa risks,(5-14) together with several hundred commoner variants conferring lower risks, identified through genome-wide association studies.(15-18)”
BackgroundSelf-citationRhee, J., Barry, K. H., Huang, W., Sampson, J. N., Hofmann, J. N., Silverman, D. T., Calafat, A. M., Botelho, J. C., Kato, K., Purdue, M. P., et al. (2023) · Environmental Research · doi:10.1016/j.envres.2023.115718 · Cited by 35
Self-citationGilchrist, J. J., Makino, S., Naranbhai, V., Sharma, P. K., Koturan, S., Tong, O., Taylor, C. A., Watson, R. A., Aires, A. V. D. L., Cooper, R. A., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31626-4 · Cited by 29
Androgen receptor enhancer usage and the chromatin regulatory landscape in human prostate cancers
Stelloo, S., Bergman, A. M., & Zwart, W. T. (2019) · Endocrine Related Cancer · doi:10.1530/erc-19-0032 · Cited by 37
Metadata
- 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
- Published
- 2018-06-11
- Volume
- 50
- Issue
- 7
- Pages
- 928-936
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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