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)

V Silvestri; G Leslie; DR Barnes; BA Agnarsson; K Aittomäki; E Alducci; IL Andrulis; RB Barkardottir; A Barroso; D Barrowdale; J Benitez; B Bonanni; A Borg; SS Buys; T Caldés; MA Caligo; C Capalbo; I Campbell; WK Chung; KBM Claes; SV Colonna; L Cortesi; FJ Couch; M De La Hoya; O Diez; YC Ding; S Domchek; DF Easton; B Ejlertsen; C Engel; DG Evans; L Feliubadalò; L Foretova; F Fostira; L Géczi; AM Gerdes; G Glendon; AK Godwin; DE Goldgar; E Hahnen; FBL Hogervorst; JL Hopper; PJ Hulick; C Isaacs; A Izquierdo; PA James; R Janavicius; UB Jensen; EM John; V Joseph; I Konstantopoulou; AW Kurian; A Kwong; E Landucci; F Lesueur; JT Loud; E Machackova; PL Mai; K Majidzadeh-A; S Manoukian; M Montagna; L Moserle; AM Mulligan; KL Nathanson; H Nevanlinna; J Ngeow Yuen Ye; L Nikitina-Zake; K Offit; E Olah; OI Olopade; A Osorio; L Papi; SK Park; IS Pedersen; P Perez-Segura; AH Petersen; P Pinto; B Porfirio; MA Pujana; P Radice; J Rantala; MU Rashid; B Rosenzweig; M Rossing; M Santamariña; RK Schmutzler; L Senter; J Simard; CF Singer; AR Solano; MC Southey; L Steele; Z Steinsnyder; D Stoppa-Lyonnet; YY Tan; MR Teixeira; SH Teo; MB Terry; M Thomassen; AE Toland

Journal article

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)

V Silvestri, G Leslie, DR Barnes, BA Agnarsson, K Aittomäki, E Alducci, IL Andrulis, RB Barkardottir, A Barroso, D Barrowdale, J Benitez, B Bonanni, A Borg, SS Buys, T Caldés, MA Caligo, C Capalbo, I Campbell, WK Chung, KBM Claes Show all

JAMA Oncology | AMER MEDICAL ASSOC | Published : 2020

DOI: 10.1001/jamaoncol.2020.2134

Abstract

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 pathol..

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University of Melbourne Researchers

Paul James Author

Melissa Southey Author

Related Projects (1)

THE KATHLEEN CUNINGHAM FOUNDATION CONSORTIUM FOR RESEARCH INTO FAMILIAL BREAST CANCER (KCONFAB)

Grants

Awarded by National Institute of General Medical Sciences

Funding Acknowledgements

The CIMBA data management and data analysis were supported by Cancer Research UK grants (C12292/A20861, C12292/A11174). The research leading to these results has received funding from Fondazione AIRC (Associazione Italiana Ricerca sul Cancro) under IG 2018-ID. 21389 project-P.I. Ottini Laura and Italian Ministry of Education, Universities and Research-Dipartimenti di Eccellenza-L. 232/2016. Dr Antoniou is a Cancer Research UK Senior Cancer Research Fellow. Dr Chenevix-Trench is a National Health and Medical Research Council Research Fellow. Dr Olopade is an ACS Clinical Research Professor. The work is also supported by the Breast Cancer Family Registry: UM1 CA164920 from the NCI; Lithuania (BFBOCC-LT): Research Council of Lithuania grant SEN-18/2015; BIDMC: Breast Cancer Research Foundation; CNIO: Spanish Ministry of Health PI16/00440 supported by FEDER funds, the Spanish Ministry of Economy and Competitiveness (MINECO) SAF2014-57680-R and the Spanish Research Network on Rare Diseases (CIBERER); COH-CCGCRN: Research reported in this publication was supported by the NCI of the NIH (R25CA112486, RC4CA153828) (PI: J. Weitzel); CONSIT: Fondazione AIRC (Associazione Italiana Ricerca sul Cancro, IG2014 No. 15547) to P. Radice, Italian Ministry of Health; CZ-BRCA: Supported by MH CZ-DRO (MMCI, 00209805) and to LM2018125; DEMOKRITOS: European Union (European Social Fund) and Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework-Research Funding Program of the General Secretariat for Research and Technology: SYN11_10_19 NBCA-Investing in knowledge society through the European Social Fund; DFKZ: German Cancer Research Center; EMBRACE: Cancer Research UK grants C1287/A10118 and C1287/A11990, and Dr Evans is supported by the Manchester NIHR Biomedical Research Centre (IS-BRC-1215-20007); FCCC: The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program, and Dr Godwin was funded by R0 1CA140323, R01 CA214545, and by the Chancellors Distinguished Chair in Biomedical Sciences Professorship; FPGMX: the Spanish Health Research Foundation, Instituto de Salud Carlos III (ISCIII) partially supported by FEDER funds, through the Research Activity Intensification Program (contract grants INT15/00070, INT16/00154, INT17/00133), and through Centro de Investigacion Biomedica en Red de Enferemdades Raras CIBERER (ACCI 2016: ER17P1AC7112/2018); Autonomous Government of Galicia (Consolidation and Structuring Program: IN607B), and by the Fundacion Mutua Madrilena (call 2018); GC-HBOC: German Cancer Aid (grant 110837, Dr Schmutzler); GEMO: The GEMO resource was initially funded by the French National Institute of Cancer (INCa, PHRC Ile de France, grant AOR 01 082, 2001-2003, grant 2013-1-BCB-01-ICH-1), the Association "Le cancer du sein, parlons-en!" Award (2004), the Association for International Cancer Research (2008-2010), and the Fondation ARC pour la recherche sur le cancer (grant PJA 20151203365) and also received support from the Canadian Institute of Health Research for the "CIHR Team in Familial Risks of Breast Cancer" program (2008-2013), and the European Commission FP7, Project Collaborative Ovarian, breast and prostate Gene-environment Study (COGS), large-scale integrating project (2009-2013); GEMO is currently supported by the INCa grant SHS-E-SP 18-015. The work is also supported by Georgetown: the Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI grant P30-CA051008), the Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Swing For the Cure; HCSC: Spanish Ministry of Health PI15/00059, PI16/01292, and CB-161200301 CIBERONC from ISCIII (Spain), partially supported by European Regional Development FEDER funds; HEBCS: Helsinki University Hospital Research Fund, the Finnish Cancer Society and the Sigrid Juselius Foundation; the HEBON study is supported by the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, and NKI2007-3756, the Netherlands Organisation of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014-187.WO76, BBMRI grant NWO 184.021.007/CP46, and the Transcan grant JTC 2012 Cancer 12-054; HRBCP: Dr Ellen Li Charitable Foundation, Kerry Kuok Foundation, and Hong Kong Hereditary Breast Cancer Family Registry; Hungarian Breast and Ovarian Cancer Study: Hungarian Research Grants KTIA-OTKA CK-80745, OTKA K-112228, and Thematic Excellence Program TUDFO/51757/2019-ITM; ICO: The authors would like to particularly acknowledge the support of the Asociacion Espanola Contra el Cancer (AECC), the Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economia y Competitividad) and "Fondo Europeo de Desarrollo Regional (FEDER), una manera de hacer Europa" (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563, PI18/01029 and CIBERONC) and the Institut Catala de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338, 2017SGR449, PERIS Project MedPerCan, and CERCA program); ILUH: Icelandic Association "Walking for Breast Cancer Research" and the Landspitali University Hospital Research Fund; IOVHBOCS: Ministero della Salute and "5x1000" Istituto Oncologico Veneto grant; IPOBCS: Liga Portuguesa Contra o Cancro; kConFab: The National Breast Cancer Foundation, and previously by the National Health and Medical Research Council, the Queensland Cancer Fund, the Cancer Councils of New SouthWales, Victoria, Tasmania and South Australia, and the Cancer Foundation ofWestern Australia; MAYO: NIH grants CA116167, CA192393 and CA176785, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), and a grant from the Breast Cancer Research Foundation; MSKCC: the Breast Cancer Research Foundation, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, the Andrew Sabin Research Fund and a Cancer Center Support Grant/Core Grant (P30 CA008748); NCI: the Intramural Research Program of the US National Cancer Institute, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD; OSUCCG: Ohio State University Comprehensive Cancer Center; PBCS: Italian Association of Cancer Research (AIRC) (IG 2013 N.14477), Tuscany Institute for Tumors grant 2014-2015-2016 and Fondazione Pisana per la Scienza; SEABASS: Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation; SWE-BRCA: the Swedish Cancer Society; UCHICAGO: NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund NationalWomen's Cancer Research Alliance and the Breast Cancer Research Foundation; UPENN: Breast Cancer Research Foundation; Susan G. Komen Foundation for the Cure, Basser Center for BRCA; UPITT/MWH: Hackers for Hope Pittsburgh; VFCTG: Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation.