TY - JOUR
T1 - 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)
AU - BRCA1/2, CIMBA - Consortium of Investigators of Modifiers of
AU - Silvestri, Valentina
AU - Leslie, Goska
AU - Barnes, Daniel R.
AU - Agnarsson, Bjarni A.
AU - Aittomäki, Kristiina
AU - Alducci, Elisa
AU - Andrulis, Irene L.
AU - Barkardottir, Rosa B.
AU - Barroso, Alicia
AU - Barrowdale, Daniel
AU - Benitez, Javier
AU - Bonanni, Bernardo
AU - Borg, Ake
AU - Buys, Saundra S.
AU - Caldés, Trinidad
AU - Caligo, Maria A.
AU - Capalbo, Carlo
AU - Campbell, Ian
AU - Chung, Wendy K.
AU - Claes, Kathleen B.M.
AU - Colonna, Sarah V.
AU - Cortesi, Laura
AU - Couch, Fergus J.
AU - De La Hoya, Miguel
AU - Diez, Orland
AU - Ding, Yuan Chun
AU - Domchek, Susan
AU - Easton, Douglas F.
AU - Ejlertsen, Bent
AU - Engel, Christoph
AU - Evans, D. Gareth
AU - Feliubadalò, Lidia
AU - Foretova, Lenka
AU - Fostira, Florentia
AU - Géczi, Lajos
AU - Gerdes, Anne Marie
AU - Glendon, Gord
AU - Godwin, Andrew K.
AU - Goldgar, David E.
AU - Hahnen, Eric
AU - Hogervorst, Frans B.L.
AU - Hopper, John L.
AU - Hulick, Peter J.
AU - Isaacs, Claudine
AU - Izquierdo, Angel
AU - Manoukian, Siranoush
AU - Montagna, Marco
AU - Moserle, Lidia
AU - Radice, Paolo
AU - Viel, Alessandra
N1 - Funding Information: 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. Publisher Copyright: © 2020 American Medical Association. All rights reserved. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2020/8/1
Y1 - 2020/8/1
N2 - 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
AB - 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
U2 - 10.1001/jamaoncol.2020.2134
DO - 10.1001/jamaoncol.2020.2134
M3 - Article
VL - 6
SP - 1218
EP - 1230
JO - JAMA oncology
JF - JAMA oncology
SN - 2374-2437
IS - 8
ER -