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)

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) Publisher Pubmed

Silvestri V¹ ; Leslie G² ; Barnes DR² ; Agnarsson BA^{3, 4} ; Aittomaki K⁵ ; Alducci E⁶ ; Andrulis IL^{7, 8} ; Barkardottir RB^{3, 9} ; Barroso A¹⁰ ; Barrowdale D² ; Benitez J^{11, 12} ; Bonanni B¹³ ; Borg A¹⁴ ; Buys SS¹⁵ Show All Authors

Silvestri V¹
Leslie G²
Barnes DR²
Agnarsson BA^{3, 4}
Aittomaki K⁵
Alducci E⁶
Andrulis IL^{7, 8}
Barkardottir RB^{3, 9}
Barroso A¹⁰
Barrowdale D²
Benitez J^{11, 12}
Bonanni B¹³
Borg A¹⁴
Buys SS¹⁵
Caldes T¹⁶
Caligo MA¹⁷
Capalbo C¹
Campbell I¹⁸
Chung WK¹⁹
Claes KBM²⁰
Colonna SV¹⁵
Cortesi L²¹
Couch FJ²²
De La Hoya M¹⁶
Diez O^{23, 24}
Ding YC²⁵
Domchek S²⁶
Easton DF^{2, 27}
Ejlertsen B²⁸
Engel C²⁹
Evans DG³⁰
Feliubadalo L³¹
Foretova L³²
Fostira F³³
Geczi L³⁴
Gerdes AM³⁵
Glendon G⁷
Godwin AK³⁶
Goldgar DE³⁷
Hahnen E^{38, 39}
Hogervorst FBL⁴⁰
Hopper JL⁴¹
Hulick PJ^{42, 43}
Isaacs C⁴⁴
Izquierdo A⁴⁵
James PA^{18, 46}
Janavicius R⁴⁷
Jensen UB⁴⁸
John EM⁴⁹
Joseph V⁵⁰
Konstantopoulou I³³
Kurian AW⁴⁹
Kwong A^{51, 52, 53}
Landucci E⁵⁴
Lesueur F^{55, 56, 57}
Loud JT⁵⁸
Machackova E³²
Mai PL⁵⁹
Majidzadeha K⁶⁰
Manoukian S⁶¹
Montagna M⁶
Moserle L⁶
Mulligan AM^{62, 63}
Nathanson KL²⁶
Nevanlinna H⁶⁴
Ngeow Yuen Ye J^{65, 66}
Nikitinazake L⁶⁷
Offit K^{50, 68}
Olah E⁶⁹
Olopade OI⁷⁰
Osorio A^{10, 12}
Papi L⁷¹
Park SK^{72, 73, 74}
Pedersen IS⁷⁵
Perezsegura P¹⁶
Petersen AH⁷⁶
Pinto P⁷⁷
Porfirio B⁷¹
Pujana MA⁷⁸
Radice P⁷⁹
Rantala J⁸⁰
Rashid MU^{81, 82}
Rosenzweig B^{83, 84}
Rossing M⁸⁵
Santamarina M^{86, 87, 88}
Schmutzler RK^{38, 39}
Senter L⁸⁹
Simard J⁹⁰
Singer CF⁹¹
Solano AR⁹²
Southey MC^{93, 94, 95}
Steele L²⁵
Steinsnyder Z⁵⁰
Stoppalyonnet D^{96, 97, 98}
Tan YY⁹⁹
Teixeira MR^{77, 100}
Teo SH^{101, 102}
Terry MB¹⁰³
Thomassen M¹⁰⁴
Toland AE¹⁰⁵
Torresesquius S²³
Tung N¹⁰⁶
Van Asperen CJ¹⁰⁷
Vega A^{86, 87, 88}
Viel A¹⁰⁸
Vierstraete J²⁰
Wappenschmidt B^{38, 39}
Weitzel JN¹⁰⁹
Wieme G²⁰
Yoon SY¹⁰¹
Zorn KK⁵⁹
Mcguffog L²
Parsons MT¹¹⁰
Hamann U⁸¹
Greene MH⁵⁸
Kirk JA¹¹¹
Neuhausen SL²⁵
Rebbeck TR^{112, 113}
Tischkowitz M^{114, 115}
Chenevixtrench G¹¹⁰
Antoniou AC²
Friedman E^{84, 116}
Ottini L¹

Source: JAMA Oncology Published:2020

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 <.001), as well as developing 2 (OR, 7.97; 95% CI, 5.47-11.60; P <.001) and 3 (OR, 19.60; 95% CI, 4.64-82.89; P <.001) primary tumors. A higher frequency of breast (OR, 5.47; 95% CI, 4.06-7.37; P <.001) and prostate (OR, 1.39; 95% CI, 1.09-1.78; P =.008) cancers was associated with a higher probability of being a BRCA2 PV carrier. Among cancers other than breast and prostate, pancreatic cancer was associated with a higher probability (OR, 3.00; 95% CI, 1.55-5.81; P =.001) and colorectal cancer with a lower probability (OR, 0.47; 95% CI, 0.29-0.78; P =.003) of being a BRCA2 PV carrier. Conclusions and Relevance: Significant differences in the cancer spectrum were observed in male BRCA2, compared with BRCA1, PV carriers. These data may inform future recommendations for surveillance of BRCA1/2-associated cancers and guide future prospective studies for estimating cancer risks in men with BRCA1/2 PVs. © 2020 American Medical Association. All rights reserved.

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Style	Citing Format
MLA	Silvestri V, et al.. "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, 2020, pp. 1218-1230.
APA	Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldes T, Caligo MA, Capalbo C, Campbell I, Chung WK, ... Ottini L (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.
Chicago	Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, et al.. "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, no. 8 (2020): 1218-1230.
Harvard	Silvestri V et al. (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), pp. 1218-1230.
Vancouver	Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, et al.. 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. 2020;6(8):1218-1230.
BibTex	@article{ author = {Silvestri V and Leslie G and Barnes DR and Agnarsson BA and Aittomaki K and Alducci E and Andrulis IL and Barkardottir RB and Barroso A and Barrowdale D and Benitez J and Bonanni B and Borg A and Buys SS and Caldes T and Caligo MA and Capalbo C and Campbell I and Chung WK and Claes KBM and Colonna SV and Cortesi L and Couch FJ and De La Hoya M and Diez O and Ding YC and Domchek S and Easton DF and Ejlertsen B and Engel C and Evans DG and Feliubadalo L and Foretova L and Fostira F and Geczi L and Gerdes AM and Glendon G and Godwin AK and Goldgar DE and Hahnen E and Hogervorst FBL and Hopper JL and Hulick PJ and Isaacs C and Izquierdo A and James PA and Janavicius R and Jensen UB and John EM and Joseph V and Konstantopoulou I and Kurian AW and Kwong A and Landucci E and Lesueur F and Loud JT and Machackova E and Mai PL and Majidzadeha K and Manoukian S and Montagna M and Moserle L and Mulligan AM and Nathanson KL and Nevanlinna H and Ngeow Yuen Ye J and Nikitinazake L and Offit K and Olah E and Olopade OI and Osorio A and Papi L and Park SK and Pedersen IS and Perezsegura P and Petersen AH and Pinto P and Porfirio B and Pujana MA and Radice P and Rantala J and Rashid MU and Rosenzweig B and Rossing M and Santamarina M and Schmutzler RK and Senter L and Simard J and Singer CF and Solano AR and Southey MC and Steele L and Steinsnyder Z and Stoppalyonnet D and Tan YY and Teixeira MR and Teo SH and Terry MB and Thomassen M and Toland AE and Torresesquius S and Tung N and Van Asperen CJ and Vega A and Viel A and Vierstraete J and Wappenschmidt B and Weitzel JN and Wieme G and Yoon SY and Zorn KK and Mcguffog L and Parsons MT and Hamann U and Greene MH and Kirk JA and Neuhausen SL and Rebbeck TR and Tischkowitz M and Chenevixtrench G and Antoniou AC and Friedman E and Ottini L}, 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)}, journal = {JAMA Oncology}, volume = {6}, number = {8}, pages = {1218-1230}, year = {2020} }
RIS	TY - JOUR AU - Silvestri V AU - Leslie G AU - Barnes DR AU - Agnarsson BA AU - Aittomaki K AU - Alducci E AU - Andrulis IL AU - Barkardottir RB AU - Barroso A AU - Barrowdale D AU - Benitez J AU - Bonanni B AU - Borg A AU - Buys SS AU - Caldes T AU - Caligo MA AU - Capalbo C AU - Campbell I AU - Chung WK AU - Claes KBM AU - Colonna SV AU - Cortesi L AU - Couch FJ AU - De La Hoya M AU - Diez O AU - Ding YC AU - Domchek S AU - Easton DF AU - Ejlertsen B AU - Engel C AU - Evans DG AU - Feliubadalo L AU - Foretova L AU - Fostira F AU - Geczi L AU - Gerdes AM AU - Glendon G AU - Godwin AK AU - Goldgar DE AU - Hahnen E AU - Hogervorst FBL AU - Hopper JL AU - Hulick PJ AU - Isaacs C AU - Izquierdo A AU - James PA AU - Janavicius R AU - Jensen UB AU - John EM AU - Joseph V AU - Konstantopoulou I AU - Kurian AW AU - Kwong A AU - Landucci E AU - Lesueur F AU - Loud JT AU - Machackova E AU - Mai PL AU - Majidzadeha K AU - Manoukian S AU - Montagna M AU - Moserle L AU - Mulligan AM AU - Nathanson KL AU - Nevanlinna H AU - Ngeow Yuen Ye J AU - Nikitinazake L AU - Offit K AU - Olah E AU - Olopade OI AU - Osorio A AU - Papi L AU - Park SK AU - Pedersen IS AU - Perezsegura P AU - Petersen AH AU - Pinto P AU - Porfirio B AU - Pujana MA AU - Radice P AU - Rantala J AU - Rashid MU AU - Rosenzweig B AU - Rossing M AU - Santamarina M AU - Schmutzler RK AU - Senter L AU - Simard J AU - Singer CF AU - Solano AR AU - Southey MC AU - Steele L AU - Steinsnyder Z AU - Stoppalyonnet D AU - Tan YY AU - Teixeira MR AU - Teo SH AU - Terry MB AU - Thomassen M AU - Toland AE AU - Torresesquius S AU - Tung N AU - Van Asperen CJ AU - Vega A AU - Viel A AU - Vierstraete J AU - Wappenschmidt B AU - Weitzel JN AU - Wieme G AU - Yoon SY AU - Zorn KK AU - Mcguffog L AU - Parsons MT AU - Hamann U AU - Greene MH AU - Kirk JA AU - Neuhausen SL AU - Rebbeck TR AU - Tischkowitz M AU - Chenevixtrench G AU - Antoniou AC AU - Friedman E AU - Ottini L TI - 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) JO - JAMA Oncology VL - 6 IS - 8 SP - 1218 EP - 1230 PY - 2020 ER -

Style

Citing Format

MLA

Silvestri V, et al.. "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, 2020, pp. 1218-1230.

APA

Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, Barkardottir RB, Barroso A, Barrowdale D, Benitez J, Bonanni B, Borg A, Buys SS, Caldes T, Caligo MA, Capalbo C, Campbell I, Chung WK, ... Ottini L (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.

Chicago

Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, Andrulis IL, et al.. "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, no. 8 (2020): 1218-1230.

Harvard

Silvestri V et al. (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), pp. 1218-1230.

Vancouver

Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomaki K, Alducci E, et al.. 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. 2020;6(8):1218-1230.

BibTex

@article{ author = {Silvestri V and Leslie G and Barnes DR and Agnarsson BA and Aittomaki K and Alducci E and Andrulis IL and Barkardottir RB and Barroso A and Barrowdale D and Benitez J and Bonanni B and Borg A and Buys SS and Caldes T and Caligo MA and Capalbo C and Campbell I and Chung WK and Claes KBM and Colonna SV and Cortesi L and Couch FJ and De La Hoya M and Diez O and Ding YC and Domchek S and Easton DF and Ejlertsen B and Engel C and Evans DG and Feliubadalo L and Foretova L and Fostira F and Geczi L and Gerdes AM and Glendon G and Godwin AK and Goldgar DE and Hahnen E and Hogervorst FBL and Hopper JL and Hulick PJ and Isaacs C and Izquierdo A and James PA and Janavicius R and Jensen UB and John EM and Joseph V and Konstantopoulou I and Kurian AW and Kwong A and Landucci E and Lesueur F and Loud JT and Machackova E and Mai PL and Majidzadeha K and Manoukian S and Montagna M and Moserle L and Mulligan AM and Nathanson KL and Nevanlinna H and Ngeow Yuen Ye J and Nikitinazake L and Offit K and Olah E and Olopade OI and Osorio A and Papi L and Park SK and Pedersen IS and Perezsegura P and Petersen AH and Pinto P and Porfirio B and Pujana MA and Radice P and Rantala J and Rashid MU and Rosenzweig B and Rossing M and Santamarina M and Schmutzler RK and Senter L and Simard J and Singer CF and Solano AR and Southey MC and Steele L and Steinsnyder Z and Stoppalyonnet D and Tan YY and Teixeira MR and Teo SH and Terry MB and Thomassen M and Toland AE and Torresesquius S and Tung N and Van Asperen CJ and Vega A and Viel A and Vierstraete J and Wappenschmidt B and Weitzel JN and Wieme G and Yoon SY and Zorn KK and Mcguffog L and Parsons MT and Hamann U and Greene MH and Kirk JA and Neuhausen SL and Rebbeck TR and Tischkowitz M and Chenevixtrench G and Antoniou AC and Friedman E and Ottini L}, 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)}, journal = {JAMA Oncology}, volume = {6}, number = {8}, pages = {1218-1230}, year = {2020} }

RIS

TY - JOUR
AU - Silvestri V
AU - Leslie G
AU - Barnes DR
AU - Agnarsson BA
AU - Aittomaki K
AU - Alducci E
AU - Andrulis IL
AU - Barkardottir RB
AU - Barroso A
AU - Barrowdale D
AU - Benitez J
AU - Bonanni B
AU - Borg A
AU - Buys SS
AU - Caldes T
AU - Caligo MA
AU - Capalbo C
AU - Campbell I
AU - Chung WK
AU - Claes KBM
AU - Colonna SV
AU - Cortesi L
AU - Couch FJ
AU - De La Hoya M
AU - Diez O
AU - Ding YC
AU - Domchek S
AU - Easton DF
AU - Ejlertsen B
AU - Engel C
AU - Evans DG
AU - Feliubadalo L
AU - Foretova L
AU - Fostira F
AU - Geczi L
AU - Gerdes AM
AU - Glendon G
AU - Godwin AK
AU - Goldgar DE
AU - Hahnen E
AU - Hogervorst FBL
AU - Hopper JL
AU - Hulick PJ
AU - Isaacs C
AU - Izquierdo A
AU - James PA
AU - Janavicius R
AU - Jensen UB
AU - John EM
AU - Joseph V
AU - Konstantopoulou I
AU - Kurian AW
AU - Kwong A
AU - Landucci E
AU - Lesueur F
AU - Loud JT
AU - Machackova E
AU - Mai PL
AU - Majidzadeha K
AU - Manoukian S
AU - Montagna M
AU - Moserle L
AU - Mulligan AM
AU - Nathanson KL
AU - Nevanlinna H
AU - Ngeow Yuen Ye J
AU - Nikitinazake L
AU - Offit K
AU - Olah E
AU - Olopade OI
AU - Osorio A
AU - Papi L
AU - Park SK
AU - Pedersen IS
AU - Perezsegura P
AU - Petersen AH
AU - Pinto P
AU - Porfirio B
AU - Pujana MA
AU - Radice P
AU - Rantala J
AU - Rashid MU
AU - Rosenzweig B
AU - Rossing M
AU - Santamarina M
AU - Schmutzler RK
AU - Senter L
AU - Simard J
AU - Singer CF
AU - Solano AR
AU - Southey MC
AU - Steele L
AU - Steinsnyder Z
AU - Stoppalyonnet D
AU - Tan YY
AU - Teixeira MR
AU - Teo SH
AU - Terry MB
AU - Thomassen M
AU - Toland AE
AU - Torresesquius S
AU - Tung N
AU - Van Asperen CJ
AU - Vega A
AU - Viel A
AU - Vierstraete J
AU - Wappenschmidt B
AU - Weitzel JN
AU - Wieme G
AU - Yoon SY
AU - Zorn KK
AU - Mcguffog L
AU - Parsons MT
AU - Hamann U
AU - Greene MH
AU - Kirk JA
AU - Neuhausen SL
AU - Rebbeck TR
AU - Tischkowitz M
AU - Chenevixtrench G
AU - Antoniou AC
AU - Friedman E
AU - Ottini L
TI - 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)
JO - JAMA Oncology
VL - 6
IS - 8
SP - 1218
EP - 1230
PY - 2020
ER -

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