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)
| Autor: | Christi J. van Asperen, Leigha Senter, Javier Benitez, Kenneth Offit, Marco Montagna, Irene L. Andrulis, Phuong L. Mai, Yen Y. Tan, Lidia Moserle, Sara Torres-Esquius, Trinidad Caldés, Orland Diez, Daniel R. Barnes, Åke Borg, Daniel Barrowdale, Joanne Ngeow, Siranoush Manoukian, Soo Hwang Teo, Maria A. Caligo, Inge Søkilde Pedersen, Jennifer T. Loud, Marta Santamariña, Amanda E. Toland, Anna Marie Mulligan, Irene Konstantopoulou, Antonis C. Antoniou, Paul A. James, Eitan Friedman, Barbara Wappenschmidt, Marc Tischkowitz, Laura Papi, Ana Osorio, Georgia Chenevix-Trench, Eva Machackova, Pedro Pinto, Keivan Majidzadeh-A, Bernardo Bonanni, Kristiina Aittomäki, Berardino Porfirio, Johanna Rantala, Valentina Silvestri, Bent Ejlertsen, Melissa C. Southey, Ramunas Janavicius, Elisabetta Landucci, Liene Nikitina-Zake, Lajos Géczi, Saundra S. Buys, Angela R. Solano, Sarah Colonna, Ana Vega, Fabienne Lesueur, Frans B. L. Hogervorst, Goska Leslie, David E. Goldgar, Peter J. Hulick, Rosa B. Barkardottir, Kristin K. Zorn, Elisa Alducci, Miguel de la Hoya, Fergus J. Couch, Laura Ottini, Anne-Marie Gerdes, Uffe Birk Jensen, Ute Hamann, Christoph Engel, Allison W. Kurian, Douglas F. Easton, Annabeth Høgh Petersen, Alessandra Viel, Linda Steele, Zoe Steinsnyder, Ava Kwong, Alicia Barroso, Eric Hahnen, Mads Thomassen, Maria Rossing, Rita K. Schmutzler, Wendy K. Chung, Angel Izquierdo, Barak Rosenzweig, Jeroen Vierstraete, Mark H. Greene, Lenka Foretova, Jeffrey N. Weitzel, Paolo Radice, Muhammad Usman Rashid, Katherine L. Nathanson, Lesley McGuffog, Ian G. Campbell, John L. Hopper, Laura Cortesi, Christian F. Singer, Sook-Yee Yoon, Lídia Feliubadaló, Bjarni A. Agnarsson, Susan M. Domchek, Vijai Joseph, Manuel R. Teixeira, Dominique Stoppa-Lyonnet, Nadine Tung, Andrew K. Godwin, Jacques Simard, Yuan Chun Ding, Carlo Capalbo, Florentia Fostira, Greet Wieme, Mary Beth Terry, Kathleen Claes, Olufunmilayo I. Olopade, Pedro Pérez-Segura, Heli Nevanlinna, D. Gareth Evans, Edith Olah, Michael T. Parsons, Claudine Isaacs, Miquel Angel Pujana, Timothy R. Rebbeck, Gord Glendon, Susan L. Neuhausen, Judy Kirk, Sue K. Park, Esther M. John |
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| Přispěvatelé: | Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, University of Helsinki, HUS Gynecology and Obstetrics, Biosciences, Department of Obstetrics and Gynecology |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Cancer Research endocrine system diseases GUIDELINES 0302 clinical medicine Neoplasms Medicine 030212 general & internal medicine Prospective cohort study skin and connective tissue diseases GENE-ENVIRONMENT INTERACTION Original Investigation RISK Aged 80 and over education.field_of_study BRCA1 Protein Middle Aged BRCA2 Protein/genetics 3. Good health PROSTATE-CANCER Phenotype Oncology 030220 oncology & carcinogenesis Male breast cancer Cohort study Adult medicine.medical_specialty Adolescent Population 3122 Cancers MUTATION CARRIERS 03 medical and health sciences Young Adult Breast cancer Internal medicine BREAST-CANCER Humans education Germ-Line Mutation Aged Retrospective Studies BRCA2 Protein business.industry Cancer Correction Retrospective cohort study Odds ratio medicine.disease BRCA1 Protein/genetics business Neoplasms/diagnosis |
| Zdroj: | Silvestri, V, Leslie, G, Barnes, D R & The CIMBA Group 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 JAMA Oncol Silvestri, V, Leslie, G, Barnes, D R, and the CIMBA Group & Pedersen, I S 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 CIMBA Group 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 Silvestri, V, Leslie, G, Barnes, D R & CIMBA Consortium 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 |
| DOI: | 10.1001/jamaoncol.2020.2134 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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