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)

CIMBA - Consortium of Investigators of Modifiers of BRCA1/2; Valentina Silvestri; Goska Leslie; Daniel R. Barnes; Bjarni A. Agnarsson; Kristiina Aittomäki; Elisa Alducci; Irene L. Andrulis; Rosa B. Barkardottir; Alicia Barroso; Daniel Barrowdale; Javier Benitez; Bernardo Bonanni; Ake Borg; Saundra S. Buys; Trinidad Caldés; Maria A. Caligo; Carlo Capalbo; Ian Campbell; Wendy K. Chung; Kathleen B.M. Claes; Sarah V. Colonna; Laura Cortesi; Fergus J. Couch; Miguel De La Hoya; Orland Diez; Yuan Chun Ding; Susan Domchek; Douglas F. Easton; Bent Ejlertsen; Christoph Engel; D. Gareth Evans; Lidia Feliubadalò; Lenka Foretova; Florentia Fostira; Lajos Géczi; Anne Marie Gerdes; Gord Glendon; Andrew K. Godwin; David E. Goldgar; Eric Hahnen; Frans B.L. Hogervorst; John L. Hopper; Peter J. Hulick; Claudine Isaacs; Angel Izquierdo; Siranoush Manoukian; Marco Montagna; Lidia Moserle; Paolo Radice; Alessandra Viel

doi:10.1001/jamaoncol.2020.2134

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)

CIMBA - Consortium of Investigators of Modifiers of BRCA1/2, Valentina Silvestri, Goska Leslie, Daniel R. Barnes, Bjarni A. Agnarsson, Kristiina Aittomäki, Elisa Alducci, Irene L. Andrulis, Rosa B. Barkardottir, Alicia Barroso, Daniel Barrowdale, Javier Benitez, Bernardo Bonanni, Ake Borg, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Carlo Capalbo, Ian Campbell, Wendy K. ChungKathleen B.M. Claes, Sarah V. Colonna, Laura Cortesi, Fergus J. Couch, Miguel De La Hoya, Orland Diez, Yuan Chun Ding, Susan Domchek, Douglas F. Easton, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Lidia Feliubadalò, Lenka Foretova, Florentia Fostira, Lajos Géczi, Anne Marie Gerdes, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Eric Hahnen, Frans B.L. Hogervorst, John L. Hopper, Peter J. Hulick, Claudine Isaacs, Angel Izquierdo, Siranoush Manoukian, Marco Montagna, Lidia Moserle, Paolo Radice, Alessandra Viel

Research output: Contribution to journal › Article › peer-review

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 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 language	English
Pages (from-to)	1218-1230
Number of pages	13
Journal	JAMA oncology
Volume	6
Issue number	8
DOIs	https://doi.org/10.1001/jamaoncol.2020.2134
Publication status	Published - Aug 1 2020

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10.1001/jamaoncol.2020.2134

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BRCA1/2, CIMBA. . C. O. I. O. M. O., Silvestri, V., Leslie, G., Barnes, D. R., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Barkardottir, R. B., Barroso, A., Barrowdale, D., Benitez, J., Bonanni, B., Borg, A., Buys, S. S., Caldés, T., Caligo, M. A., Capalbo, C., Campbell, I., ... Viel, A. (2020). 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, 6(8), 1218-1230. https://doi.org/10.1001/jamaoncol.2020.2134

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). / BRCA1/2, CIMBA - Consortium of Investigators of Modifiers of; Silvestri, Valentina; Leslie, Goska; Barnes, Daniel R.; Agnarsson, Bjarni A.; Aittomäki, Kristiina; Alducci, Elisa; Andrulis, Irene L.; Barkardottir, Rosa B.; Barroso, Alicia; Barrowdale, Daniel; Benitez, Javier; Bonanni, Bernardo; Borg, Ake; Buys, Saundra S.; Caldés, Trinidad; Caligo, Maria A.; Capalbo, Carlo; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B.M.; Colonna, Sarah V.; Cortesi, Laura; Couch, Fergus J.; De La Hoya, Miguel; Diez, Orland; Ding, Yuan Chun; Domchek, Susan; Easton, Douglas F.; Ejlertsen, Bent; Engel, Christoph; Evans, D. Gareth; Feliubadalò, Lidia; Foretova, Lenka; Fostira, Florentia; Géczi, Lajos; Gerdes, Anne Marie; Glendon, Gord; Godwin, Andrew K.; Goldgar, David E.; Hahnen, Eric; Hogervorst, Frans B.L.; Hopper, John L.; Hulick, Peter J.; Isaacs, Claudine; Izquierdo, Angel; Manoukian, Siranoush; Montagna, Marco; Moserle, Lidia; Radice, Paolo ; Viel, Alessandra.

In: JAMA oncology, Vol. 6, No. 8, 01.08.2020, p. 1218-1230.

Research output: Contribution to journal › Article › peer-review

BRCA1/2, CIMBACOIOMO, Silvestri, V, Leslie, G, Barnes, DR, Agnarsson, BA, Aittomäki, K, Alducci, E, Andrulis, IL, Barkardottir, RB, Barroso, A, Barrowdale, D, Benitez, J, Bonanni, B, Borg, A, Buys, SS, Caldés, T, Caligo, MA, Capalbo, C, Campbell, I, Chung, WK, Claes, KBM, Colonna, SV, Cortesi, L, Couch, FJ, De La Hoya, M, Diez, O, Ding, YC, Domchek, S, Easton, DF, Ejlertsen, B, Engel, C, Evans, DG, Feliubadalò, L, Foretova, L, Fostira, F, Géczi, L, Gerdes, AM, Glendon, G, Godwin, AK, Goldgar, DE, Hahnen, E, Hogervorst, FBL, Hopper, JL, Hulick, PJ, Isaacs, C, Izquierdo, A, Manoukian, S, Montagna, M, Moserle, L, Radice, P & Viel, A 2020, '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, vol. 6, no. 8, pp. 1218-1230. https://doi.org/10.1001/jamaoncol.2020.2134

BRCA1/2, CIMBA - Consortium of Investigators of Modifiers of ; Silvestri, Valentina ; Leslie, Goska ; Barnes, Daniel R. ; Agnarsson, Bjarni A. ; Aittomäki, Kristiina ; Alducci, Elisa ; Andrulis, Irene L. ; Barkardottir, Rosa B. ; Barroso, Alicia ; Barrowdale, Daniel ; Benitez, Javier ; Bonanni, Bernardo ; Borg, Ake ; Buys, Saundra S. ; Caldés, Trinidad ; Caligo, Maria A. ; Capalbo, Carlo ; Campbell, Ian ; Chung, Wendy K. ; Claes, Kathleen B.M. ; Colonna, Sarah V. ; Cortesi, Laura ; Couch, Fergus J. ; De La Hoya, Miguel ; Diez, Orland ; Ding, Yuan Chun ; Domchek, Susan ; Easton, Douglas F. ; Ejlertsen, Bent ; Engel, Christoph ; Evans, D. Gareth ; Feliubadalò, Lidia ; Foretova, Lenka ; Fostira, Florentia ; Géczi, Lajos ; Gerdes, Anne Marie ; Glendon, Gord ; Godwin, Andrew K. ; Goldgar, David E. ; Hahnen, Eric ; Hogervorst, Frans B.L. ; Hopper, John L. ; Hulick, Peter J. ; Isaacs, Claudine ; Izquierdo, Angel ; Manoukian, Siranoush ; Montagna, Marco ; Moserle, Lidia ; Radice, Paolo ; Viel, Alessandra. / 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). In: JAMA oncology. 2020 ; Vol. 6, No. 8. pp. 1218-1230.

@article{5dab357c213343fbaa8001ac9497dfaa,

title = "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)",

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 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 ",

author = "BRCA1/2, {CIMBA - Consortium of Investigators of Modifiers of} and Valentina Silvestri and Goska Leslie and Barnes, {Daniel R.} and Agnarsson, {Bjarni A.} and Kristiina Aittom{\"a}ki and Elisa Alducci and Andrulis, {Irene L.} and Barkardottir, {Rosa B.} and Alicia Barroso and Daniel Barrowdale and Javier Benitez and Bernardo Bonanni and Ake Borg and Buys, {Saundra S.} and Trinidad Cald{\'e}s and Caligo, {Maria A.} and Carlo Capalbo and Ian Campbell and Chung, {Wendy K.} and Claes, {Kathleen B.M.} and Colonna, {Sarah V.} and Laura Cortesi and Couch, {Fergus J.} and {De La Hoya}, Miguel and Orland Diez and Ding, {Yuan Chun} and Susan Domchek and Easton, {Douglas F.} and Bent Ejlertsen and Christoph Engel and Evans, {D. Gareth} and Lidia Feliubadal{\`o} and Lenka Foretova and Florentia Fostira and Lajos G{\'e}czi and Gerdes, {Anne Marie} and Gord Glendon and Godwin, {Andrew K.} and Goldgar, {David E.} and Eric Hahnen and Hogervorst, {Frans B.L.} and Hopper, {John L.} and Hulick, {Peter J.} and Claudine Isaacs and Angel Izquierdo and Siranoush Manoukian and Marco Montagna and Lidia Moserle and Paolo Radice and Alessandra Viel",

note = "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: {\textcopyright} 2020 American Medical Association. All rights reserved. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",

year = "2020",

month = aug,

day = "1",

doi = "10.1001/jamaoncol.2020.2134",

language = "English",

volume = "6",

pages = "1218--1230",

journal = "JAMA oncology",

issn = "2374-2437",

publisher = "American Medical Association",

number = "8",

}

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 -

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)

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