Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 1218-1230 |
| Number of pages | 13 |
| Journal | JAMA Oncol. |
| Volume | 6 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - 2020 |
Keywords
- 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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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. / 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.; Chung, W.K.; Claes, K.B.M.; Colonna, S.V.; Cortesi, L.; Couch, F.J.; De La Hoya, M.; Diez, O.; Ding, Y.C.; Domchek, S.; Easton, D.F.; Ejlertsen, B.; Engel, C.; Evans, D.G.; Feliubadalò, L.; Foretova, L.; Fostira, F.; Géczi, L.; Gerdes, A.-M.; Glendon, G.; Godwin, A.K.; Goldgar, D.E.; Hahnen, E.; Hogervorst, F.B.L.; Hopper, J.L.; Hulick, P.J.; Isaacs, C.; Izquierdo, A.; James, P.A.; Janavicius, R.; Jensen, U.B.; John, E.M.; Joseph, V.; Konstantopoulou, I.; Kurian, A.W.; Kwong, A.; Landucci, E.; Lesueur, F.; Loud, J.T.; Machackova, E.; Mai, P.L.; Majidzadeh-A, K.; Manoukian, S.; Montagna, M.; Moserle, L.; Mulligan, A.M.; Nathanson, K.L.; Nevanlinna, H.; Ngeow Yuen Ye, J.; Nikitina-Zake, L.; Offit, K.; Olah, E.; Olopade, O.I.; Osorio, A.; Papi, L.; Park, S.K.; Pedersen, I.S.; Perez-Segura, P.; Petersen, A.H.; Pinto, P.; Porfirio, B.; Pujana, M.A.; Radice, P.; Rantala, J.; Rashid, M.U.; Rosenzweig, B.; Rossing, M.; Santamariña, M.; Schmutzler, R.K.; Senter, L.; Simard, J.; Singer, C.F.; Solano, A.R.; Southey, M.C.; Steele, L.; Steinsnyder, Z.; Stoppa-Lyonnet, D.; Tan, Y.Y.; Teixeira, M.R.; Teo, S.H.; Terry, M.B.; Thomassen, M.; Toland, A.E.; Torres-Esquius, S.; Tung, N.; Van Asperen, C.J.; Vega, A.; Viel, A.; Vierstraete, J.; Wappenschmidt, B.; Weitzel, J.N.; Wieme, G.; Yoon, S.-Y.; Zorn, K.K.; Mcguffog, L.; Parsons, M.T.; Hamann, U.; Greene, M.H.; Kirk, J.A.; Neuhausen, S.L.; Rebbeck, T.R.; Tischkowitz, M.; Chenevix-Trench, G.; Antoniou, A.C.; Friedman, E.; Ottini, L.
In: JAMA Oncol., Vol. 6, No. 8, 2020, p. 1218-1230.Research output: Contribution to journal › Article › peer-review
}
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)
T2 - JAMA Oncology
AU - Silvestri, V.
AU - Leslie, G.
AU - Barnes, D.R.
AU - Agnarsson, B.A.
AU - Aittomäki, K.
AU - Alducci, E.
AU - Andrulis, I.L.
AU - Barkardottir, R.B.
AU - Barroso, A.
AU - Barrowdale, D.
AU - Benitez, J.
AU - Bonanni, B.
AU - Borg, A.
AU - Buys, S.S.
AU - Caldés, T.
AU - Caligo, M.A.
AU - Capalbo, C.
AU - Campbell, I.
AU - Chung, W.K.
AU - Claes, K.B.M.
AU - Colonna, S.V.
AU - Cortesi, L.
AU - Couch, F.J.
AU - De La Hoya, M.
AU - Diez, O.
AU - Ding, Y.C.
AU - Domchek, S.
AU - Easton, D.F.
AU - Ejlertsen, B.
AU - Engel, C.
AU - Evans, D.G.
AU - Feliubadalò, L.
AU - Foretova, L.
AU - Fostira, F.
AU - Géczi, L.
AU - Gerdes, A.-M.
AU - Glendon, G.
AU - Godwin, A.K.
AU - Goldgar, D.E.
AU - Hahnen, E.
AU - Hogervorst, F.B.L.
AU - Hopper, J.L.
AU - Hulick, P.J.
AU - Isaacs, C.
AU - Izquierdo, A.
AU - James, P.A.
AU - Janavicius, R.
AU - Jensen, U.B.
AU - John, E.M.
AU - Joseph, V.
AU - Konstantopoulou, I.
AU - Kurian, A.W.
AU - Kwong, A.
AU - Landucci, E.
AU - Lesueur, F.
AU - Loud, J.T.
AU - Machackova, E.
AU - Mai, P.L.
AU - Majidzadeh-A, K.
AU - Manoukian, S.
AU - Montagna, M.
AU - Moserle, L.
AU - Mulligan, A.M.
AU - Nathanson, K.L.
AU - Nevanlinna, H.
AU - Ngeow Yuen Ye, J.
AU - Nikitina-Zake, L.
AU - Offit, K.
AU - Olah, E.
AU - Olopade, O.I.
AU - Osorio, A.
AU - Papi, L.
AU - Park, S.K.
AU - Pedersen, I.S.
AU - Perez-Segura, P.
AU - Petersen, A.H.
AU - Pinto, P.
AU - Porfirio, B.
AU - Pujana, M.A.
AU - Radice, P.
AU - Rantala, J.
AU - Rashid, M.U.
AU - Rosenzweig, B.
AU - Rossing, M.
AU - Santamariña, M.
AU - Schmutzler, R.K.
AU - Senter, L.
AU - Simard, J.
AU - Singer, C.F.
AU - Solano, A.R.
AU - Southey, M.C.
AU - Steele, L.
AU - Steinsnyder, Z.
AU - Stoppa-Lyonnet, D.
AU - Tan, Y.Y.
AU - Teixeira, M.R.
AU - Teo, S.H.
AU - Terry, M.B.
AU - Thomassen, M.
AU - Toland, A.E.
AU - Torres-Esquius, S.
AU - Tung, N.
AU - Van Asperen, C.J.
AU - Vega, A.
AU - Viel, A.
AU - Vierstraete, J.
AU - Wappenschmidt, B.
AU - Weitzel, J.N.
AU - Wieme, G.
AU - Yoon, S.-Y.
AU - Zorn, K.K.
AU - Mcguffog, L.
AU - Parsons, M.T.
AU - Hamann, U.
AU - Greene, M.H.
AU - Kirk, J.A.
AU - Neuhausen, S.L.
AU - Rebbeck, T.R.
AU - Tischkowitz, M.
AU - Chenevix-Trench, G.
AU - Antoniou, A.C.
AU - Friedman, E.
AU - Ottini, L.
N1 - Cited By :2 Export Date: 5 March 2021 Correspondence Address: Ottini, L.; Department of Molecular Medicine, Viale Regina Elena, 324, Italy; email: laura.ottini@uniroma1.it Funding details: Cancer Research UK, CRUK, C12292/ A11174, C12292/A20861 Funding details: Associazione Italiana per la Ricerca sul Cancro, AIRC, 21389 Funding text 1: 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. References: Kuchenbaecker, K.B., Hopper, J.L., Barnes, D.R., Risks of breast ovarian and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers (2017) JAMA., 317 (23), pp. 2402-2416. , BRCA1 and BRCA2 Cohort Consortium; Cancer risks in BRCA2 mutation carriers (1999) J Natl Cancer Inst., 91 (15), pp. 1310-1316. , Breast Cancer Linkage Consortium; Thompson, D., Easton, D.F., Cancer incidence in BRCA1 mutation carriers (2002) J Natl Cancer Inst., 94 (18), pp. 1358-1365. , Breast Cancer Linkage Consortium; Iqbal, J., Ragone, A., Lubinski, J., The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers (2012) Br J Cancer., 107 (12), pp. 2005-2009. , Hereditary Breast Cancer Study Group; Rizzolo, P., Silvestri, V., Tommasi, S., Male breast cancer: Genetics, epigenetics, and ethical aspects (2013) Ann Oncol., 24, pp. i75-i82; Van Asperen, C.J., Brohet, R.M., Meijers-Heijboer, E.J., Cancer risks in BRCA2 families: Estimates for sites other than breast and ovary (2005) J Med Genet., 42 (9), pp. 711-719. , Netherlands Collaborative Group on Hereditary Breast Cancer (HEBON); Tai, Y.C., Domchek, S., Parmigiani, G., Chen, S., Breast cancer risk among male BRCA1 and BRCA2 mutation carriers (2007) J Natl Cancer Inst., 99 (23), pp. 1811-1814; Evans, D.G., Susnerwala, I., Dawson, J., Woodward, E., Maher, E.R., Lalloo, F., Risk of breast cancer in male BRCA2 carriers (2010) J Med Genet., 47 (10), pp. 710-711; Kote-Jarai, Z., Leongamornlert, D., Saunders, E., BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: Implications for genetic testing in prostate cancer patients (2011) Br J Cancer., 105 (8), pp. 1230-1234. , UKGPCS Collaborators; Leongamornlert, D., Mahmud, N., Tymrakiewicz, M., Germline BRCA1 mutations increase prostate cancer risk (2012) Br J Cancer., 106 (10), pp. 1697-1701. , UKGPCS Collaborators; Edwards, S.M., Kote-Jarai, Z., Meitz, J., Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene (2003) Am J Hum Genet., 72 (1), pp. 1-12. , Cancer Research UK/British Prostate Group UK Familial Prostate Cancer Study Collaborators; British Association of Urological Surgeons Section of Oncology; Kirchhoff, T., Kauff, N.D., Mitra, N., BRCA mutations and risk of prostate cancer in Ashkenazi Jews (2004) Clin Cancer Res., 10 (9), pp. 2918-2921; Ibrahim, M., Yadav, S., Ogunleye, F., Zakalik, D., Male BRCA mutation carriers: Clinical characteristics and cancer spectrum (2018) BMC Cancer., 18 (1), p. 179; Mersch, J., Jackson, M.A., Park, M., Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian (2015) Cancer., 121 (2), pp. 269-275; Nyberg, T., Frost, D., Barrowdale, D., Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: A prospective cohort study (2020) Eur Urol., 77 (1), pp. 24-35; Agalliu, I., Kwon, E.M., Zadory, D., Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate cancer (2007) Clin Cancer Res., 13 (3), pp. 839-843; Fachal, L., Gömez-Caamaño, A., Celeiro-Muñoz, C., BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data (2011) Prostate., 71 (16), pp. 1768-1779; Laitman, Y., Keinan Boker, L., Liphsitz, I., Cancer risks in Jewish male BRCA1 and BRCA2 mutation carriers (2015) Breast Cancer Res Treat., 150 (3), pp. 631-635; Liede, A., Karlan, B.Y., Narod, S.A., Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: A review of the literature (2004) J Clin Oncol., 22 (4), pp. 735-742; Risch, H.A., McLaughlin, J.R., Cole, D.E., Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada (2006) J Natl Cancer Inst., 98 (23), pp. 1694-1706; Mohamad, H.B., Apffelstaedt, J.P., Counseling for male BRCA mutation carriers: A review (2008) Breast., 17 (5), pp. 441-450; Cavanagh, H., Rogers, K.M.A., The role of BRCA1 and BRCA2 mutations in prostate, pancreatic and stomach cancers (2015) Hered Cancer Clin Pract., 13 (1), p. 16; Streff, H., Profato, J., Ye, Y., Cancer incidence in first-and second-degree relatives of BRCA1 and BRCA2 mutation carriers (2016) Oncologist., 21 (7), pp. 869-874; Mano, R., Tamir, S., Kedar, I., Malignant abnormalities in male BRCA mutation carriers: Results from a prospectively screened cohort (2018) JAMA Oncol., 4 (6), pp. 872-874; Silvestri, V., Barrowdale, D., Mulligan, A.M., Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2 (2016) Breast Cancer Res., 18 (1), p. 15. , KConFab Investigators; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); EMBRACE; Leão, R.R.N., Price, A.J., James Hamilton, R., Germline BRCA mutation in male carriers-ripe for precision oncology? (2018) Prostate Cancer Prostatic Dis., 21 (1), pp. 48-56; Castro, E., Goh, C., Leongamornlert, D., Effect of BRCA mutations on metastatic relapse and cause-specific survival after radical treatment for localised prostate cancer (2015) Eur Urol., 68 (2), pp. 186-193; Blair, A.B., Groot, V.P., Gemenetzis, G., BRCA1/BRCA2 germline mutation carriers and sporadic pancreatic ductal adenocarcinoma (2018) J Am Coll Surg., 226 (4), pp. 630-637e1; Forbes, C., Fayter, D., De Kock, S., Quek, R.G.W., A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA-mutated breast cancer (2019) Cancer Manag Res., 11, pp. 2321-2337; Chenevix-Trench, G., Milne, R.L., Antoniou, A.C., Couch, F.J., Easton, D.F., Goldgar, D.E., An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: The Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA) (2007) Breast Cancer Res., 9 (2), p. 104; Patel, V.L., Busch, E.L., Friebel, T.M., Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness (2020) Cancer Res., 80 (3), pp. 624-638; (2019) NCCN guidelines genetic/familial high-risk assessment: Breast and ovarian. Version 3., , https://www.nccn.org/, National Comprehensive Cancer Network, Accessed May 14, 2019; Paluch-Shimon, S., Cardoso, F., Sessa, C., Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening (2016) Ann Oncol., 27, pp. v103-v110. , ESMO Guidelines Committee; (2019) Hereditary breast and ovarian cancer, , https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer, American Society of Clinical Oncology, Accessed September 30; Marino, M.A., Gucalp, A., Leithner, D., Mammographic screening in male patients at high risk for breast cancer: Is it worth it? (2019) Breast Cancer Res Treat., 177 (3), pp. 705-711; Gao, Y., Goldberg, J.E., Young, T.K., Babb, J.S., Moy, L., Heller, S.L., Breast cancer screening in high-risk men: A 12-year longitudinal observational study of male breast imaging utilization and outcomes (2019) Radiology., 293 (2), pp. 282-291; Woods, R.W., Salkowski, L.R., Elezaby, M., Burnside, E.S., Strigel, R.M., Fowler, A.M., Image-based screening for men at high risk for breast cancer: Benefits and drawbacks (2020) Clin Imaging., 60 (1), pp. 84-89; Page, E.C., Bancroft, E.K., Brook, M.N., Interim results from the IMPACT study: Evidence for prostate-specific antigen screening in BRCA2 mutation carriers (2019) Eur Urol., 76 (6), pp. 831-842. , IMPACT Study Collaborators; Palli, D., Masala, G., Mariani-Costantini, R., A gene-environment interaction between occupation and BRCA1/BRCA2 mutations in male breast cancer? (2004) Eur J Cancer., 40 (16), pp. 2474-2479; Rudolph, A., Chang-Claude, J., Schmidt, M.K., Gene-environment interaction and risk of breast cancer (2016) Br J Cancer., 114 (2), pp. 125-133; Kiechle, M., Engel, C., Berling, A., Effects of lifestyle intervention in BRCA1/2 mutation carriers on nutrition, BMI, and physical fitness (LIBRE study): Study protocol for a randomized controlled trial (2016) Trials., 17 (368); Simonds, N.I., Ghazarian, A.A., Pimentel, C.B., Review of the gene-environment interaction literature in cancer: What do we know? (2016) Genet Epidemiol., 40 (5), pp. 356-365; Evans, D.G., Clancy, T., Hill, J., Tischkowitz, M., Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations? (2016) Clin Genet., 89 (3), p. 399
PY - 2020
Y1 - 2020
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
KW - adult
KW - age
KW - aged
KW - Article
KW - bladder cancer
KW - cancer risk
KW - cohort analysis
KW - colorectal cancer
KW - controlled study
KW - esophagus cancer
KW - genetic variability
KW - geography
KW - head and neck cancer
KW - heterozygote
KW - human
KW - kidney cancer
KW - leukemia
KW - liver cancer
KW - lung cancer
KW - lymphoma
KW - major clinical study
KW - male
KW - male breast cancer
KW - malignant neoplasm
KW - melanoma
KW - multiple cancer
KW - oncogene
KW - pancreas cancer
KW - prediction
KW - prostate cancer
KW - retrospective study
KW - stomach cancer
KW - testis cancer
KW - thyroid cancer
KW - tumor suppressor gene
U2 - 10.1001/jamaoncol.2020.2134
DO - 10.1001/jamaoncol.2020.2134
M3 - Article
VL - 6
SP - 1218
EP - 1230
JO - JAMA Oncol.
JF - JAMA Oncol.
SN - 2374-2437
IS - 8
ER -