Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA): JAMA Oncology

V. Silvestri, G. Leslie, D.R. Barnes, B.A. Agnarsson, K. Aittomäki, E. Alducci, I.L. Andrulis, R.B. Barkardottir, A. Barroso, D. Barrowdale, J. Benitez, B. Bonanni, A. Borg, S.S. Buys, T. Caldés, M.A. Caligo, C. Capalbo, I. Campbell, W.K. Chung, K.B.M. ClaesS.V. Colonna, L. Cortesi, F.J. Couch, M. De La Hoya, O. Diez, Y.C. Ding, S. Domchek, D.F. Easton, B. Ejlertsen, C. Engel, D.G. Evans, L. Feliubadalò, L. Foretova, F. Fostira, L. Géczi, A.-M. Gerdes, G. Glendon, A.K. Godwin, D.E. Goldgar, E. Hahnen, F.B.L. Hogervorst, J.L. Hopper, P.J. Hulick, C. Isaacs, A. Izquierdo, P.A. James, R. Janavicius, U.B. Jensen, E.M. John, V. Joseph, I. Konstantopoulou, A.W. Kurian, A. Kwong, E. Landucci, F. Lesueur, J.T. Loud, E. Machackova, P.L. Mai, K. Majidzadeh-A, S. Manoukian, M. Montagna, L. Moserle, A.M. Mulligan, K.L. Nathanson, H. Nevanlinna, J. Ngeow Yuen Ye, L. Nikitina-Zake, K. Offit, E. Olah, O.I. Olopade, A. Osorio, L. Papi, S.K. Park, I.S. Pedersen, P. Perez-Segura, A.H. Petersen, P. Pinto, B. Porfirio, M.A. Pujana, P. Radice, J. Rantala, M.U. Rashid, B. Rosenzweig, M. Rossing, M. Santamariña, R.K. Schmutzler, L. Senter, J. Simard, C.F. Singer, A.R. Solano, M.C. Southey, L. Steele, Z. Steinsnyder, D. Stoppa-Lyonnet, Y.Y. Tan, M.R. Teixeira, S.H. Teo, M.B. Terry, M. Thomassen, A.E. Toland, S. Torres-Esquius, N. Tung, C.J. Van Asperen, A. Vega, A. Viel, J. Vierstraete, B. Wappenschmidt, J.N. Weitzel, G. Wieme, S.-Y. Yoon, K.K. Zorn, L. Mcguffog, M.T. Parsons, U. Hamann, M.H. Greene, J.A. Kirk, S.L. Neuhausen, T.R. Rebbeck, M. Tischkowitz, G. Chenevix-Trench, A.C. Antoniou, E. Friedman, L. Ottini

Research output: Contribution to journalArticlepeer-review


Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. Objective: To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers. Design, Setting, and Participants: Retrospective cohort study of 6902 men, including 3651 BRCA1 and 3251 BRCA2 PV carriers, older than 18 years recruited from cancer genetics clinics from 1966 to 2017 by 53 study groups in 33 countries worldwide collaborating through the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Clinical data and pathologic characteristics were collected. Main Outcomes and Measures: BRCA1/2 status was the outcome in a logistic regression, and cancer diagnoses were the independent predictors. All odds ratios (ORs) were adjusted for age, country of origin, and calendar year of the first interview. Results: Among the 6902 men in the study (median [range] age, 51.6 [18-100] years), 1634 cancers were diagnosed in 1376 men (19.9%), the majority (922 of 1,376 [67%]) being BRCA2 PV carriers. Being affected by any cancer was associated with a higher probability of being a BRCA2, rather than a BRCA1, PV carrier (OR, 3.23; 95% CI, 2.81-3.70; P
Original languageEnglish
Pages (from-to)1218-1230
Number of pages13
JournalJAMA Oncol.
Issue number8
Publication statusPublished - 2020


  • adult
  • age
  • aged
  • Article
  • bladder cancer
  • cancer risk
  • cohort analysis
  • colorectal cancer
  • controlled study
  • esophagus cancer
  • genetic variability
  • geography
  • head and neck cancer
  • heterozygote
  • human
  • kidney cancer
  • leukemia
  • liver cancer
  • lung cancer
  • lymphoma
  • major clinical study
  • male
  • male breast cancer
  • malignant neoplasm
  • melanoma
  • multiple cancer
  • oncogene
  • pancreas cancer
  • prediction
  • prostate cancer
  • retrospective study
  • stomach cancer
  • testis cancer
  • thyroid cancer
  • tumor suppressor gene


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