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    Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores.

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    Authors
    Lecarpentier, J
    Silvestri, V
    Kuchenbaecker, K
    Barrowdale, D
    Dennis, J
    McGuffog, L
    Soucy, P
    Leslie, G
    Rizzolo, P
    Navazio, A
    Valentini, V
    Zelli, V
    Lee, A
    Amin Al Olama, A
    Tyrer, J
    Southey, M
    John, E
    Conner, T
    Goldgar, D
    Buys, S
    Janavicius, R
    Steele, L
    Ding, Y
    Neuhausen, S
    Hansen, T
    Osorio, A
    Weitzel, J
    Toss, A
    Medici, V
    Cortesi, L
    Zanna, I
    Palli, D
    Radice, P
    Manoukian, S
    Peissel, B
    Azzollini, J
    Viel, A
    Cini, G
    Damante, G
    Tommasi, S
    Peterlongo, P
    Fostira, F
    Hamann, U
    Evans, D Gareth R
    Henderson, A
    Brewer, C
    Eccles, D
    Cook, J
    Ong, K
    Walker, L
    Side, L
    Porteous, M
    Davidson, R
    Hodgson, S
    Frost, D
    Adlard, J
    Izatt, L
    Eeles, R
    Ellis, S
    Tischkowitz, M
    Godwin, A
    Meindl, A
    Gehrig, A
    Dworniczak, B
    Sutter, C
    Engel, C
    Niederacher, D
    Steinemann, D
    Hahnen, E
    Hauke, J
    Rhiem, K
    Kast, K
    Arnold, N
    Ditsch, N
    Wang-Gohrke, S
    Wappenschmidt, B
    Wand, D
    Lasset, C
    Stoppa-Lyonnet, D
    Belotti, M
    Damiola, F
    Barjhoux, L
    Mazoyer, S
    Van Heetvelde, M
    Poppe, B
    De Leeneer, K
    Claes, K
    de la Hoya, M
    Garcia-Barberan, V
    Caldes, T
    Perez Segura, P
    Kiiski, J
    Aittomäki, K
    Khan, S
    Nevanlinna, H
    van Asperen, C
    Vaszko, T
    Kasler, M
    Olah, E
    Balmaña, J
    Gutiérrez-Enríquez, S
    Diez, O
    Teulé, A
    Izquierdo, A
    Darder, E
    Brunet, J
    Del Valle, J
    Feliubadalo, L
    Pujana, M
    Lazaro, C
    Arason, A
    Agnarsson, B
    Johannsson, O
    Barkardottir, R
    Alducci, E
    Tognazzo, S
    Montagna, M
    Teixeira, M
    Pinto, P
    Spurdle, A
    Holland, H
    Lee, J
    Lee, M
    Lee, J
    Kim, S
    Kang, E
    Kim, Z
    Sharma, P
    Rebbeck, T
    Vijai, J
    Robson, M
    Lincoln, A
    Musinsky, J
    Gaddam, P
    Tan, Y
    Berger, A
    Singer, C
    Loud, J
    Greene, M
    Mulligan, A
    Glendon, G
    Andrulis, I
    Toland, A
    Senter, L
    Bojesen, A
    Nielsen, H
    Skytte, A
    Sunde, L
    Jensen, U
    Pedersen, I
    Krogh, L
    Kruse, T
    Caligo, M
    Yoon, S
    Teo, S
    von Wachenfeldt, A
    Huo, D
    Nielsen, S
    Olopade, O
    Nathanson, K
    Domchek, S
    Lorenchick, C
    Jankowitz, R
    Campbell, I
    James, P
    Mitchell, G
    Orr, N
    Park, S
    Thomassen, M
    Offit, K
    Couch, F
    Simard, J
    Easton, D
    Chenevix-Trench, G
    Schmutzler, R
    Antoniou, A
    Ottini, L
    Issue Date
    2017-04-27
    
    Metadata
    Show full item record
    Abstract
    Purpose 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.
    Citation
    Prediction of breast and prostate cancer risks in male BRCA1 and BRCA2 mutation carriers using polygenic risk scores. 2017 J Clin Oncol
    Journal
    Journal of Clinical Oncology
    URI
    http://hdl.handle.net/10541/620357
    DOI
    10.1200/JCO.2016.69.4935
    PubMed ID
    28448241
    Type
    Article
    Language
    en
    ISSN
    1527-7755
    ae974a485f413a2113503eed53cd6c53
    10.1200/JCO.2016.69.4935
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