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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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Huynh‐Le, M., Karunamuni, R. A., Fan, C. C., Thompson, W. K., Muir, K. R., Lophatananon, A., Tye, K. E., Wolk, A., Håkansson, N., Mills, I. G., et al. (2021) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-021-00341-4 · Cited by 18
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“First, GWASidentified susceptibility variants only explain less than one-half of the familial PCa risk [4, 5].”
BackgroundMethodInfluentialSelf-citationO-GlcNAc transferase couples MRE11 to transcriptionally active chromatin to suppress DNA damage
Gondane, A., Girmay, S., Helevä, A., Pallasaho, S., Loda, M. F., & Itkonen, H. M. (2022) · Journal of Biomedical Science · doi:10.1186/s12929-022-00795-1 · Cited by 17
Review of prostate cancer genomic studies in Africa
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“…alleles (40.5 – 66.5 repeats), in contrast with Short alleles (24 – 27 repeats), with the rs2242652-A and rs10069690-T alleles, both of which were previously associated with a reduced risk of bladder 4 and prostate cancer 13 but an elevated risk of glioma 14 , breast 15,16 , and ovarian cancer 17 .”
InfluentialSelf-citationMoya, L., Lai, J., Hoffman, A., Srinivasan, S., Panchadsaram, J., Chambers, S. K., Clements, J. A., Batra, J., & BioResource, A. P. C. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00428 · Cited by 17
“A recent publication has shown massive STR sequencing (STR-Seq) is possible using the CRISPR-Cas9 technology (Shin et al., 2017).”
BackgroundSelf-citationPlasma DNA Analysis in Prostate Cancer: Opportunities for Improving Clinical Management
Wu, A., & Attard, G. (2018) · Clinical Chemistry · doi:10.1373/clinchem.2018.287250 · Cited by 18
Allergy, asthma, and the risk of breast and prostate cancer: a Mendelian randomization study
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Self-citationProstate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
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“In the UKB we additionally tested for gene-level association using Firth logistic regression with age, age 2 and four ancestry principal components as covariates to ensure our results were not confounded (Supplementary Data 3 and 7).”
Self-citationMorova, T., Ding, Y., Huang, C.-C. F., Sar, F., Schwarz, T., Giambartolomei, C., Baca, S. C., Grishin, D., Hach, F., Gusev, A., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac1198 · Cited by 17
“We extracted 147 index SNPs from (5) manuscript’s supplementary table 7 (european SNPs only) and Supplementary table 8.”
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Current progress and questions in germline genetics of prostate cancer
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“, the ability of GRS to accurately stratify risk, has been consistently established in many well-designed studies, including large caseecontrol studies with samples sizes over 100 000 subjects [4,7], clinical trial populations [8e11], clinical prostate biopsy cohorts [12,13], and prospective studies [14].”
BackgroundInfluentialSelf-citationConcept and benchmarks for assessing narrow‐sense validity of genetic risk score values
Yu, H., Shi, Z., Wu, Y., Wang, C., Lin, X., Perschon, C. R., Isaacs, W. B., Helfand, B. T., Zheng, S. L., Duggan, D. J., et al. (2019) · The Prostate · doi:10.1002/pros.23821 · Cited by 16
Self-citationMulti-ethnic transcriptome-wide association study of prostate cancer
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“Both the African American and Latin American groups were imputed with 1000G and the Consortium on Asthma among African-ancestry Populations in the Americas (CAAPA) [23].”
BackgroundInfluentialEvaluation of Polygenic Risk Scores for Prediction of Prostate Cancer in Korean Men
Oh, J. J., Kim, E., Woo, E., Song, S. H., Kim, J. K., Lee, H., Lee, S., Hong, S. K., & Byun, S. (2020) · Frontiers in Oncology · doi:10.3389/fonc.2020.583625 · Cited by 16
“Multiple largescale genome-wide association studies (GWASs) have led to the identification of more than 170 single-nucleotide polymorphisms (SNPs) underlying susceptibility to PCa (4).”
BackgroundSelf-citationMOB: Pivotal Conserved Proteins in Cytokinesis, Cell Architecture and Tissue Homeostasis
Delgado, I. L. S., Carmona, B., Nolasco, S., Santos, D., Leitão, A., & Soares, H. (2020) · Biology · doi:10.3390/biology9120413 · Cited by 16
KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness
Lin, H., Huang, P., Cheng, C., Tung, H.-Y., Fang, Z., Berglund, A., Chen, A., French-Kwawu, J., Harris, D., Pow‐Sang, J. M., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-85169-7 · Cited by 16
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“, breast (15), colon (16), and prostate (17)].”
Self-citationTargeted next-generation sequencing for locally advanced prostate cancer in the Korean population
Suh, J., Jeong, C. W., Choi, S., Ku, J. H., Kim, H. H., Kim, K., & Kwak, C. H. (2020) · Korean journal of urology · doi:10.4111/icu.2020.61.2.127 · Cited by 16
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Characterizing selection on complex traits through conditional frequency spectra
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“Through the initial and second data quality-control steps, SNPs were included by filtering on a missing-call rate of <2%, a Hardy– Weinberg equilibrium of p ≥1E–04, and R̂ ≥ 0:6 imputation quality (46), but individuals with unexpected duplicates, firstand second-degree relatives, and outliers on the basis of genetic p…”
MethodLi, W., Huang, M., Wang, R., & Wang, W. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.974402 · Cited by 15
“Third, the present genetic summary data of certain types of cancer were obtained from large-scale consortia (namely, ILCCO, BCAC, and PRACTICAL), including millions of cases, which were far more than some previous studies (7, 11, 12).”
Cui, K., Song, N., Fan, Y., Zeng, L., Shi, P., Wang, Z., Su, W. C., & Wang, H. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1285274 · Cited by 18
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“In the secondary QC process, we selected SNPs with R̂2 0:6 imputation quality (19).”
MethodAssociation of germline genetic variants with TMPRSS2-ERG fusion status in prostate cancer
Kohaar, I., Li, Q., Chen, Y., Ravindranath, L., Young, D., Ali, A., Sesterhenn, I. A., Rosner, I. L., Cullen, J. C., Srivastava, S. K., et al. (2020) · Oncotarget · doi:10.18632/oncotarget.27534 · Cited by 16
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Correlation between Genomic Variants and Worldwide Epidemiology of Prostate Cancer
Vieira, G. M., Gellen, L. P. A., Leal, D. F. D. V. B., Pastana, L. F., Vinagre, L. W. M. S., de Aquino, V. T., Fernandes, M. R., de Assumpção, P. P., Burbano, R. M. R., dos Santos, S. E. B., et al. (2022) · Genes · doi:10.3390/genes13061039 · Cited by 15
“The CDKN1B gene is responsible for encoding a protein that inhibits a cyclin-dependent kinase that plays an important role in the cell cycle [19].”
BackgroundNo Evidence for a Causal Relationship Between Cancers and Parkinson’s Disease
Senkevich, K. A., Bandrés‐Ciga, S., Yu, E., Liyanage, U. E., Noyce, A. J., & Gan‐Or, Z. (2021) · Journal of Parkinson s Disease · doi:10.3233/jpd-202474 · Cited by 13
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Coffee Intake, Caffeine Metabolism Genotype, and Survival Among Men with Prostate Cancer
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“PCa summary statistics (79,148 cases and 61,106 controls) conducted by PRACTICAL Consortium were derived from the UK biobank study 27,28 .”
MethodDutta, D., Guo, X., Winter, T., Jahagirdar, O. B., Purdue, M. P., Dutta, D., Machiela, M. J., Gorman, B. R., Winter, T., Okuhara, D. Y., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.07.012 · Cited by 14
Self-citationPolygenic Risk Scores in Prostate Cancer Risk Assessment and Screening
Byrne, L., & Toland, A. E. (2021) · Urologic Clinics of North America · doi:10.1016/j.ucl.2021.03.007 · Cited by 14
Bakshi, A., Riaz, M., Orchard, S. G., Carr, P. R., Joshi, A. D., Cao, Y., Rebello, R. J., Nguyen‐Dumont, T., Southey, M. C., Millar, J. L., et al. (2021) · Cancers · doi:10.3390/cancers13225815 · Cited by 13
“Furthermore, the lack of specificity of the current PRS to identify the risk of aggressive disease can likely be linked back to the initial ascertainment of prostate cancer cases used in the original GWAS to derive the score [26].”
BackgroundMethodInfluentialSelf-citationSpisák, S., Tisza, V., Nuzzo, P. V., Seo, J.-H., Pataki, B., Ribli, D., Sztupinszki, Z. M., Bell, C. A., Rohanizadegan, M., Stillman, D. R., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40616-z · Cited by 14
“33 prostate cancer (PCa) risk locus 1,25,28 .”
Zhong, H., Zhu, J., Liu, S., Ghoneim, D. H., Surendran, P., Liu, T., Fahle, S., Butterworth, A. S., Alam, M. A., Deng, H., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad139 · Cited by 14
Design and quality control of large-scale two-sample Mendelian randomization studies
Haycock, P., Borges, M. C., Burrows, K., Lemaître, R. N., Harrison, S., Burgess, S., Chang, X., Westra, J., Khankari, N. K., Tsilidis, K. K., et al. (2023) · International Journal of Epidemiology · doi:10.1093/ije/dyad018 · Cited by 17
Self-citationGu, D., Tang, M., Wang, Y., Cui, H., Zhang, M., Bai, Y., Zeng, Z., Tan, Y., Wang, X., & Zhang, B. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2022.829248 · Cited by 14
“org 3 Outcome Trait GWAS results for prostate cancer were obtained from fixedeffects meta-analyses based on individuals of European ancestry in the PRACTICAL consortium (44 825 prostate cancer cases and 27 904 controls) (10), and UK Biobank (6879 prostate cancer cases and 199 891 controls) (9).”
MethodLeyden, G. M., Greenwood, M. P., Gaborieau, V., Han, Y., Amos, C. I., Brennan, P., Murphy, D., Smith, G. D., & Richardson, T. G. (2022) · British Journal of Cancer · doi:10.1038/s41416-022-02060-6 · Cited by 13
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“Full details of the study are available elsewhere (13) and in Supplementary Table 1.”
BackgroundPrediction of clinically significant prostate cancer using polygenic risk models in Asians
Song, S. H., Kim, E., Woo, E., Kwon, E., Yoon, S., Kim, J. K., Lee, H., Oh, J. J., Lee, S., Hong, S. K., et al. (2021) · Korean journal of urology · doi:10.4111/icu.20210305 · Cited by 13
“92-fold increased risk of csPCa in the 95th percentile of our study is comparable to results validated in western counterparts with a 4 to 5-fold increased risk in the 99th percentile [18,27].”
ResultSelf-citationThe role of MTNR1B polymorphism on circadian rhythm‐related cancer: A UK Biobank cohort study
Wu, J., & Tan, X. W. (2022) · International Journal of Cancer · doi:10.1002/ijc.34047 · Cited by 13
“Our finding is consistent with most of the existing evidence that the association between the MTNR1B rs10830963 SNP and cancer risk is not significant in the general population, and also in accordance with the previous GWAS where MTNR1B rs10830963 SNP has not been screened out as a risk factor for either breast cancer…”
ResultSonti, S., & Grant, S. F. A. (2022) · SLEEP · doi:10.1093/sleep/zsac180 · Cited by 12
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“Recent genome-wide association studies (GWASs) have discovered over 270 single nucleotide polymorphism (SNP) loci associated with PCa susceptibility [35–37].”
BackgroundGenetic susceptibility to prostate cancer in Taiwan: A genome‐wide association study
Bau, D., Tsai, C., CHANG, W.-S., Yang, J., Liu, T., Lu, H., Wang, Y., & Tsai, F. (2024) · Molecular Carcinogenesis · doi:10.1002/mc.23676 · Cited by 13
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“To elucidate the genetic causes of prostate cancer, genome‐wide association studies (GWASs) have been performed and reported over 170 risk loci showing prostate cancer association.(5,6) However, more work is needed to understand the molecular mechanisms of prostate cancer etiology.”
A molecular census of midbrain dopaminergic neurons in Parkinson’s diseasePreprint
Kamath, T., Abdulraouf, A., Burris, S. J., Gazestani, V., Nadaf, N. M., Vanderburg, C. R., & Macosko, E. Z. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.16.448661 · Cited by 13
Liu, T., Yang, F., Wang, Z., Mei, Y., Li, H., Wang, K., Zhang, X., Chen, Y., Zhang, Y., & Meng, J. (2024) · Prostate International · doi:10.1016/j.prnil.2024.11.004 · Cited by 12
“In our study, we identi fi ed 11, 13, and 7 microbial communities causally associated with PCa, prostatitis, and prostate hyperplasia, respectively.”
Terek, S., del Rosario, M. C., Hain, H. S., Connolly, J. J., Behr, M. A., Harr, M. H., Hakonarson, H. H., & Holm, I. A. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12121945 · Cited by 12
Micronutrients and risks of three main urologic cancers: A mendelian randomization study
Lü, Y., Su, H., Wang, Y., & Li, H. (2023) · Frontiers in Nutrition · doi:10.3389/fnut.2023.1016243 · Cited by 12
“Instrumental variables for RCC, BCa, and PCa were Frontiers inNutrition 02 frontiersin.org obtained from IARC (5,219 RCC cases and 8,011 controls of European ancestry), UKB (1,101 BCa cases and 461,832 controls of European ancestry), and PRATICAL consortium (79,148 PCa cases and 61,106 controls of European ancestry),…”
BackgroundMethodInfluentialOu, J., Zhen, K., Wu, Y., Xue, Z., Fang, Y., Zhang, Q., Bi, H., Tian, X., Ma, L., & Liu, C. (2023) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-023-04853-5 · Cited by 14
Gregga, I., Pharoah, P. D. P., Gayther, S. A., Manichaikul, A. W., Im, H. K., Kar, S., Schildkraut, J. M., & Wheeler, H. E. (2023) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-23-0309 · Cited by 12
Self-citationComparing the effects of CETP in East Asian and European ancestries: a Mendelian randomization study
Dunca, D., Chopade, S., Gordillo‐Marañón, M., Hingorani, A. D., Kuchenbaecker, K. B., Finan, C., & Schmidt, A. F. (2023) · Nature Communications · doi:10.1016/j.atherosclerosis.2023.06.880 · Cited by 12
The Germline and Somatic Origins of Prostate Cancer Heterogeneity
Yamaguchi, T. N., Houlahan, K. E., Zhu, H., Kurganovs, N. J., Livingstone, J. M., Fox, N. S., Yuan, J., Penington, J. S., Jung, C.-H., Schwarz, T., et al. (2025) · Cancer Discovery · doi:10.1158/2159-8290.cd-23-0882 · Cited by 13
“Polygenic risk scores (PRS) based on common germline variants can predict risk of a prostate cancer diagnosis (16) and may inform on disease aggression (17, 18).”
InfluentialLandscape of TET2 Mutations: From Hematological Malignancies to Solid Tumors
Hawking, Z. L., & Allan, J. M. (2025) · Cancer Medicine · doi:10.1002/cam4.70792 · Cited by 12
Uncovering somatic genetic drivers in prostate cancer through comprehensive genome-wide analysis
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“Genome-wide association studies In this study, we used the GWAS data for breast cancer generated for 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 of East Asian ancestry [129], and for prostate cancer generated for 46,939 cases and 27,910 controls of European ancestry [130].”
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Genetic Associations Between Smoking- and Glaucoma-Related Traits
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“50 Although further research is needed, the genetic connection between smoking and lower IOP may be related to epigenetic modifications.”
BackgroundPHLPP2 is a pseudophosphatase that lost activity in the metazoan ancestor
Husremović, T., Meier, V., Piëch, L., Siess, K. M., Antonioli, S., Grishkovskaya, I., Kircheva, N., Angelova, S., Wenzl, K., Brandstätter, A., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2417218122 · Cited by 13
“An intron variant in the neighboring BCL2 gene has been associated with prostate carcinoma in two GWASs with P - values 5.0 × 10 −8 ( 47 , 48 ), but no cancer associations have been reported for either PHLPP1 or PHLPP2 ( SI Appendix , Fig.”
InfluentialJung, S. Y., Papp, J. C., Sobel, E. M., Pellegrini, M. A., Yu, H., & Zhang, Z. (2021) · Scientific Reports · doi:10.1038/s41598-020-80197-1 · Cited by 11
A rare variant in EZH2 is associated with prostate cancer risk
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“Integrating 3D genome data with polygenic risk scores (PRS) can provide insights into genetic pathways associated with an individual’s lifetime PCa risk and can usher the development of intervention strategies to prevent or delay the disease (21).”
Inherited risk assessment of prostate cancer: it takes three to do it right
Xu, J., Labbate, C. V., Isaacs, W. B., & Helfand, B. T. (2019) · Prostate Cancer and Prostatic Diseases · doi:10.1038/s41391-019-0165-y · Cited by 11
Self-citationProstate Cancer Genomic Subtypes
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Ren, N., Liu, Q., Yan, L., & Huang, Q. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22168792 · Cited by 11
“The rs684232 site has been reported for association with prostate cancer susceptibility [7,8,36] and determined to be an important expression quantitative trait locus (eQTL) [42–45].”
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A genome-wide cross-cancer meta-analysis highlights the shared genetic links of five solid cancers
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“Summary data for prostate cancer were obtained from the comprehensive GWAS meta-analysis conducted by the PRACTICAL consortium [20], encompassing 79,148 cases and 61,106 controls of European descent.”
MethodSaunders, E. J., Dadaev, T., Brook, M. N., Wakerell, S., Govindasami, K., Rageevakumar, R., Hussain, N., Osborne, A. M., Keating, D., Lophatananon, A., et al. (2024) · European Urology Oncology · doi:10.1016/j.euo.2024.02.003 · Cited by 10
Self-citationGenetic variants for head size share genes and pathways with cancer
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Racial disparity in prostate cancer: an outlook in genetic and molecular landscape
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“Moreover, with the identification of over 140 SNPs associated with PCa through a meta-analysis that included ProtecT data [72, 75], but not all SNPs used in the original PHS validation, exploring new SNPs and validating known ones could enhance the model.”
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Gallstones, cholecystectomy, and cancer risk: an observational and Mendelian randomization study
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Self-citationDiagnosis of Early-Stage Non-Small Cell Lung Cancer Using DNA Methylation in Tissue and Plasma
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“Further work needs to be performed to understand if these new SNPs will help understand the biological rationale for chemoprevention (28)”
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Implementation of individualised polygenic risk score analysis: a test case of a family of four
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Racial disparity in the genomics of precision oncology of prostate cancer
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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)
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- Nature Genetics (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- PubMed (publishedVersion)
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- 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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