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dc.contributor.authorLecarpentier, J
dc.contributor.authorSilvestri, V
dc.contributor.authorKuchenbaecker, KB
dc.contributor.authorBarrowdale, D
dc.contributor.authorDennis, J
dc.contributor.authorMcGuffog, L
dc.contributor.authorSoucy, P
dc.contributor.authorLeslie, G
dc.contributor.authorRizzolo, P
dc.contributor.authorNavazio, AS
dc.contributor.authorValentini, V
dc.contributor.authorZelli, V
dc.contributor.authorLee, A
dc.contributor.authorAl Olama, AA
dc.contributor.authorTyrer, JP
dc.contributor.authorSouthey, M
dc.contributor.authorJohn, EM
dc.contributor.authorConner, TA
dc.contributor.authorGoldgar, DE
dc.contributor.authorBuys, SS
dc.contributor.authorJanavicius, R
dc.contributor.authorSteele, L
dc.contributor.authorDing, YC
dc.contributor.authorNeuhausen, SL
dc.contributor.authorHansen, TVO
dc.contributor.authorOsorio, A
dc.contributor.authorWeitzel, JN
dc.contributor.authorToss, A
dc.contributor.authorMedici, V
dc.contributor.authorCortesi, L
dc.contributor.authorZanna, I
dc.contributor.authorPalli, D
dc.contributor.authorRadice, P
dc.contributor.authorManoukian, S
dc.contributor.authorPeissel, B
dc.contributor.authorAzzollini, J
dc.contributor.authorViel, A
dc.contributor.authorCini, G
dc.contributor.authorDamante, G
dc.contributor.authorTommasi, S
dc.contributor.authorPeterlongo, P
dc.contributor.authorFostira, F
dc.contributor.authorHamann, U
dc.contributor.authorEvans, DG
dc.contributor.authorHenderson, A
dc.contributor.authorBrewer, C
dc.contributor.authorEccles, D
dc.contributor.authorCook, J
dc.contributor.authorOng, K-R
dc.contributor.authorWalker, L
dc.contributor.authorSide, LE
dc.contributor.authorPorteous, ME
dc.contributor.authorDavidson, R
dc.contributor.authorHodgson, S
dc.contributor.authorFrost, D
dc.contributor.authorAdlard, J
dc.contributor.authorIzatt, L
dc.contributor.authorEeles, R
dc.contributor.authorEllis, S
dc.contributor.authorTischkowitz, M
dc.contributor.authorGodwin, AK
dc.contributor.authorMeindl, A
dc.contributor.authorGehrig, A
dc.contributor.authorDworniczak, B
dc.contributor.authorSutter, C
dc.contributor.authorEngel, C
dc.contributor.authorNiederacher, D
dc.contributor.authorSteinemann, D
dc.contributor.authorHahnen, E
dc.contributor.authorHauke, J
dc.contributor.authorRhiem, K
dc.contributor.authorKast, K
dc.contributor.authorArnold, N
dc.contributor.authorDitsch, N
dc.contributor.authorWang-Gohrke, S
dc.contributor.authorWappenschmidt, B
dc.contributor.authorWand, D
dc.contributor.authorLasset, C
dc.contributor.authorStoppa-Lyonnet, D
dc.contributor.authorBelotti, M
dc.contributor.authorDamiola, F
dc.contributor.authorBarjhoux, L
dc.contributor.authorMazoyer, S
dc.contributor.authorVan Heetvelde, M
dc.contributor.authorPoppe, B
dc.contributor.authorDe Leeneer, K
dc.contributor.authorClaes, KBM
dc.contributor.authorde la Hoya, M
dc.contributor.authorGarcia-Barberan, V
dc.contributor.authorCaldes, T
dc.contributor.authorPerez Segura, P
dc.contributor.authorKiiski, JI
dc.contributor.authorAittomaeki, K
dc.contributor.authorKhan, S
dc.contributor.authorNevanlinna, H
dc.contributor.authorvan Asperen, CJ
dc.contributor.authorVaszko, T
dc.contributor.authorKasler, M
dc.contributor.authorOlah, E
dc.contributor.authorBalmana, J
dc.contributor.authorGutierrez-Enriquez, S
dc.contributor.authorDiez, O
dc.contributor.authorTeule, A
dc.contributor.authorIzquierdo, A
dc.contributor.authorDarder, E
dc.contributor.authorBrunet, J
dc.contributor.authorDel Valle, J
dc.contributor.authorFeliubadalo, L
dc.contributor.authorPujana, MA
dc.contributor.authorLazaro, C
dc.contributor.authorArason, A
dc.contributor.authorAgnarsson, BA
dc.contributor.authorJohannsson, OT
dc.contributor.authorBarkardottir, RB
dc.contributor.authorAlducci, E
dc.contributor.authorTognazzo, S
dc.contributor.authorMontagna, M
dc.contributor.authorTeixeira, MR
dc.contributor.authorPinto, P
dc.contributor.authorSpurdle, AB
dc.contributor.authorHolland, H
dc.contributor.authorLee, JW
dc.contributor.authorLee, MH
dc.contributor.authorLee, J
dc.contributor.authorKim, S-W
dc.contributor.authorKang, E
dc.contributor.authorKim, Z
dc.contributor.authorSharma, P
dc.contributor.authorRebbeck, TR
dc.contributor.authorVijai, J
dc.contributor.authorRobson, M
dc.contributor.authorLincoln, A
dc.contributor.authorMusinsky, J
dc.contributor.authorGaddam, P
dc.contributor.authorTan, YY
dc.contributor.authorBerger, A
dc.contributor.authorSinger, CF
dc.contributor.authorLoud, JT
dc.contributor.authorGreene, MH
dc.contributor.authorMulligan, AM
dc.contributor.authorGlendon, G
dc.contributor.authorAndrulis, IL
dc.contributor.authorToland, AE
dc.contributor.authorSenter, L
dc.contributor.authorBojesen, A
dc.contributor.authorNielsen, HR
dc.contributor.authorSkytte, A-B
dc.contributor.authorSunde, L
dc.contributor.authorJensen, UB
dc.contributor.authorPedersen, IS
dc.contributor.authorKrogh, L
dc.contributor.authorKruse, TA
dc.contributor.authorCaligo, MA
dc.contributor.authorYoon, S-Y
dc.contributor.authorTeo, S-H
dc.contributor.authorvon Wachenfeldt, A
dc.contributor.authorHuo, D
dc.contributor.authorNielsen, SM
dc.contributor.authorOlopade, OI
dc.contributor.authorNathanson, KL
dc.contributor.authorDomchek, SM
dc.contributor.authorLorenchick, C
dc.contributor.authorJankowitz, RC
dc.contributor.authorCampbell, I
dc.contributor.authorJames, P
dc.contributor.authorMitchell, G
dc.contributor.authorOrr, N
dc.contributor.authorPark, SK
dc.contributor.authorThomassen, M
dc.contributor.authorOffit, K
dc.contributor.authorCouch, FJ
dc.contributor.authorSimard, J
dc.contributor.authorEaston, DF
dc.contributor.authorChenevix-Trench, G
dc.contributor.authorSchmutzler, RK
dc.contributor.authorAntoniou, AC
dc.contributor.authorOttini, L
dc.date.accessioned2021-02-04T00:42:21Z
dc.date.available2021-02-04T00:42:21Z
dc.date.issued2017-07-10
dc.identifier.citationLecarpentier, J., Silvestri, V., Kuchenbaecker, K. B., Barrowdale, D., Dennis, J., McGuffog, L., Soucy, P., Leslie, G., Rizzolo, P., Navazio, A. S., Valentini, V., Zelli, V., Lee, A., Al Olama, A. A., Tyrer, J. P., Southey, M., John, E. M., Conner, T. A., Goldgar, D. E. ,... Ottini, L. (2017). Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores. JOURNAL OF CLINICAL ONCOLOGY, 35 (20), pp.2240-+. https://doi.org/10.1200/JCO.2016.69.4935.
dc.identifier.issn0732-183X
dc.identifier.urihttp://hdl.handle.net/11343/259170
dc.description.abstractPurpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights. Results In male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 × 10-6). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 × 10-9). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. Conclusion PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.
dc.languageEnglish
dc.publisherAMER SOC CLINICAL ONCOLOGY
dc.titlePrediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
dc.typeJournal Article
dc.identifier.doi10.1200/JCO.2016.69.4935
melbourne.affiliation.departmentSir Peter MacCallum Department of Oncology
melbourne.affiliation.departmentClinical Pathology
melbourne.affiliation.departmentMedicine and Radiology
melbourne.affiliation.facultyMedicine, Dentistry & Health Sciences
melbourne.source.titleJournal of Clinical Oncology
melbourne.source.volume35
melbourne.source.issue20
melbourne.source.pages2240-+
dc.rights.licenseCC BY
melbourne.elementsid1204247
melbourne.contributor.authorJames, Paul
melbourne.contributor.authorSouthey, Melissa
melbourne.contributor.authorCampbell, Ian
melbourne.contributor.authorMitchell, Gillian
dc.identifier.eissn1527-7755
melbourne.accessrightsOpen Access


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