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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

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dc.contributor.author GEMO Study Collaborators
dc.contributor.author EMBRACE Collaborators
dc.contributor.author kConFab Investigators
dc.contributor.author HEBON Investigators
dc.contributor.author Consortium of Investigators of Modifiers of BRCA1 and BRCA2
dc.date.accessioned 2022-03-31T01:03:09Z
dc.date.available 2022-03-31T01:03:09Z
dc.date.issued 2022-01-11
dc.identifier.citation GEMO Study Collaborators , EMBRACE Collaborators , kConFab Investigators , HEBON Investigators & Consortium of Investigators of Modifiers of BRCA1 and BRCA2 2022 , ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ' , Journal of the National Cancer Institute , vol. 114 , no. 1 , pp. 109-122 . https://doi.org/10.1093/jnci/djab147
dc.identifier.issn 0027-8874
dc.identifier.other PURE: 46566155
dc.identifier.other PURE UUID: 766f3dfe-4509-46af-9bf7-9187ec6e98e5
dc.identifier.other Scopus: 85122613384
dc.identifier.uri https://hdl.handle.net/20.500.11815/3002
dc.description Publisher Copyright: © The Author(s) 2021. Published by Oxford University Press.
dc.description.abstract BACKGROUND: 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. METHODS: 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)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: 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 = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 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 years, 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. CONCLUSIONS: 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.
dc.format.extent 14
dc.format.extent 109-122
dc.language.iso en
dc.relation.ispartofseries Journal of the National Cancer Institute; 114(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Meinafræði
dc.subject Krabbameinslæknisfræði
dc.subject BRCA1 Protein
dc.subject BRCA2 Protein
dc.subject Breast Neoplasms
dc.subject Prostatic Neoplasms
dc.subject Genetic Predisposition to Disease
dc.subject Oncology
dc.subject Cancer Research
dc.title Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
dc.type /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article
dc.description.version Peer reviewed
dc.identifier.pmid 34320204
dc.identifier.doi https://doi.org/10.1093/jnci/djab147
dc.relation.url http://www.scopus.com/inward/record.url?scp=85122613384&partnerID=8YFLogxK
dc.contributor.department Faculty of Medicine
dc.contributor.department Clinical Laboratory Services, Diagnostics and Blood Bank


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