{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T10:39:37Z","timestamp":1775039977848,"version":"3.50.1"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CIMBA"},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["C12292\/A20861"],"award-info":[{"award-number":["C12292\/A20861"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","award":["PPRPGM-Nov20\\100002"],"award-info":[{"award-number":["PPRPGM-Nov20\\100002"]}],"id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005010","name":"Italian Association for Cancer Research","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005010","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Italian League for the Fight Against Cancer"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1\/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)\u2013negative (PRSER-), or ER-positive (PRSER+) breast cancer risk.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR\u2009=\u20091.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR\u2009=\u20091.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85\u2009years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.<\/jats:p><\/jats:sec>","DOI":"10.1093\/jnci\/djab147","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T19:11:57Z","timestamp":1627326717000},"page":"109-122","source":"Crossref","is-referenced-by-count":37,"title":["Breast and Prostate Cancer Risks for Male<i>BRCA1<\/i>and<i>BRCA2<\/i>Pathogenic Variant Carriers Using Polygenic Risk Scores"],"prefix":"10.1093","volume":"114","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3781-7570","authenticated-orcid":false,"given":"Daniel R","family":"Barnes","sequence":"first","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0712-9379","authenticated-orcid":false,"given":"Valentina","family":"Silvestri","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5756-6222","authenticated-orcid":false,"given":"Goska","family":"Leslie","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK"}]},{"given":"Lesley","family":"McGuffog","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4591-1214","authenticated-orcid":false,"given":"Joe","family":"Dennis","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0037-3790","authenticated-orcid":false,"given":"Xin","family":"Yang","sequence":"additional","affiliation":[{"name":"Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1693-0435","authenticated-orcid":false,"given":"Julian","family":"Adlard","sequence":"additional","affiliation":[{"name":"Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7721-9965","authenticated-orcid":false,"given":"Bjarni A","family":"Agnarsson","sequence":"additional","affiliation":[{"name":"Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland"},{"name":"School of Medicine, University of Iceland, Reykjavik, Iceland"}]},{"given":"Munaza","family":"Ahmed","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK"}]},{"given":"Kristiina","family":"Aittom\u00e4ki","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4226-6435","authenticated-orcid":false,"given":"Irene L","family":"Andrulis","sequence":"additional","affiliation":[{"name":"Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0480-886X","authenticated-orcid":false,"given":"Adalgeir","family":"Arason","sequence":"additional","affiliation":[{"name":"Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland"},{"name":"BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4523-8808","authenticated-orcid":false,"given":"Norbert","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany"},{"name":"Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1880-291X","authenticated-orcid":false,"given":"Bernd","family":"Auber","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Hannover Medical School, Hannover, Germany"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9364-9778","authenticated-orcid":false,"given":"Jacopo","family":"Azzollini","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy"}]},{"given":"Judith","family":"Balma\u00f1a","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Genetics Group, Vall d\u2019Hebron Institute of Oncology, Vall d\u2019Hebron Hospital Campus, Barcelona, Spain"},{"name":"Department of Medical Oncology, Vall d\u2019Hebron Hospital Universitari, Vall d\u2019Hebron Barcelona Hospital Campus, Barcelona, 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