The DOI matches its Crossref record; 65 of the 65 references it cites were found in a registry or an index.
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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Circulating Immune and Cancer Driver Gene Biomarkers Precede Prostate Cancer Diagnosis by over 10 yr
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“…Group to investigate Cancer Associated Alterations in the Genome (PRACTICAL), which comprised 79,148 prostate cancer cases and 61,106 controls sourced from the Europe (http://practical.ccge.medschl.cam.ac.uk/) (Schumacher et al., 2018) were applied to verify the results of the discovery stage.”
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TFXcan reveals transcription factor programs driving GWAS loci
Adeluwa, T., Salazar-Magaña, S., Sumner, S., Gona, S., Nyasimi, F., Carbonetto, P., Baca, S. C., Freedman, M., Gusev, A., Liu, B., et al. (2026) · Cell Genomics · doi:10.1016/j.xgen.2026.101398
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“…the GWAS Catalog for prostate cancer (GCST006085, harmonised GRCh38 file with effect sizes and standard errors; N = 140,254, case fraction 0.564) [17] and ovarian cancer (GCST004415, Ovarian Cancer Association Consortium overall epithelial ovarian cancer; N = 66,450, case fraction 0.384; GRCh37…”
Influential
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)
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- Apollo
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- 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)
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- 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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