The germline mutational landscape of BRCA1 and BRCA2 in Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2018 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/28925 |
Resumo: | Hospital do Câncer de Barretos. Centro de Pesquisa de Oncologia Molecular. Barretos, SP, Brasil / Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata. Escola de Ciências da Saúde de Barretos, Barretos, SP, Brasil. |
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Palmero, Edenir InêzCarraro, Dirce MariaAlemar, BarbaraMoreira, Miguel Angelo MartinsSantos, Ândrea Ribeiro dosAbe-Sandes, KiyokoGalvão, Henrique Campos ReisReis, Rui ManuelSouza, Cristiano de PáduaCampacci, NataliaAchatz, Maria IsabelBrianese, Rafael CanfeldFormiga, Maria Nirvana da CruzMakdissi, Fabiana BaroniVargas, Fernando ReglaSantos, Anna Cláudia Evangelista dosSeuanez, Hector N.Souza, Kelly Rose Lobo deNetto, Cristina B. O.Silva, Patrícia SantosSilva, Gustavo Stumpf daBurbano, Rommel M. R.Santos, SidneyAssumpção, Paulo PimentelBernardes, Izabel Maria MonteiroLopes, Taisa Manuela Bonfim MachadoBomfim, Thais FerreiraTorrales, Maria Betânia PereiraNascimento, IvanaGaricochea, BernardoSimon, Sergio D.Noronha, SimoneLima, Fernanda Teresa deChami, Anisse MarquesBittar, Camila MatzenbacherBines, JoseArtigalas, OsvaldoEsteves-Diz, Maria Del PilarLajus, Tirzah Braz PettaGifoni, Ana Carolina Leite Vieira CostaGuindalini, Rodrigo S. C.Cintra, Terezinha SarquisSchwartz, Ida V. D.Bernardi, PricilaMiguel, DiegoNogueira, Sonia Tereza dos SantosHerzog, JosefWeitzel, Jefrey N.Ashton-Prolla, Patricia2018-09-20T12:17:50Z2018-09-20T12:17:50Z2018PALMERO, Edenir Inêz et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Scientific Reports, v. 8, p. 1-10, June 2018.2045-2322https://www.arca.fiocruz.br/handle/icict/2892510.1038/s41598-018-27315-22045-2322engNature Publishing GroupBRCA1BRCA2Mutações germinativasBrasilBRCA1BRCA2Germline mutationsBrazilThe germline mutational landscape of BRCA1 and BRCA2 in Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleHospital do Câncer de Barretos. Centro de Pesquisa de Oncologia Molecular. Barretos, SP, Brasil / Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata. Escola de Ciências da Saúde de Barretos, Barretos, SP, Brasil.International Research Center/CIPE. AC Camargo Cancer Center. Sao Paulo, SP, Brasil.Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Laboratório de Genética Humana e Médica. Belém, PA, Brasil / Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Núcleo de Pesquisas em Oncologia. Belém, PA, Brasil.Universidade Federal da Bahia. Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Hospital de Câncer de Barretos. Departamento de Oncogenética. Barretos, SP, Brasil.Hospital do Câncer de Barretos. Centro de Pesquisa de Oncologia Molecular. Barretos, SP, Brasil / Life and Health Sciences Research Institute (ICVS), Health Sciences School, University of Minho, Braga, Portugal / ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal.Hospital de Câncer de Barretos. Departamento de Oncogenética. Barretos, SP, Brasil.Hospital de Câncer de Barretos. Centro de Pesquisa em Oncologia Molecular. Barretos, SP, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitos. Rio de janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Instituto Nacional de Câncer. Programa de Genética. Rio de Janeiro, RJ, Brasil.Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre. Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil.Hospital Ophir Loyola. Laboratório de Biologia Molecular. Belém do Pará, PA, Brasil.Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Laboratório de Genética Humana e Médica. Belém, PA, Brasil / Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Núcleo de Pesquisas em Oncologia. Belém, PA, Brasil.Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Núcleo de Pesquisas em Oncologia. Belém, PA, Brasil.Universidade Federal do Pará. Programa de Pós-graduação em Genética e Biologia Molecular. Núcleo de Pesquisas em Oncologia. Belém, PA, Brasil.Universidade Federal da Bahia. Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia. Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia. Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia. Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil / Núcleo de Oncologia da Bahia - Grupo Oncoclínicas, Salvador, BA, Brasil.Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics - Department of Health and Human Services/Centro de Oncologia, NCI-NIH/Hospital Sírio Libanês, Bethesda, USA.International Research Center/CIPE. AC Camargo Cancer Center. São Paulo, SP, Brasil.Oncogenetics and Clinical Oncology Departments, AC Camargo Cancer Center, São Paulo, Brazil.Breast Surgery Department. AC Camargo Cancer Center. São Paulo, SP, Brazil.The detection of germline mutations in BRCA1 and BRCA2 is essential to the formulation of clinical management strategies, and in Brazil, there is limited access to these services, mainly due to the costs/ availability of genetic testing. Aiming at the identification of recurrent mutations that could be included in a low-cost mutation panel, used as a first screening approach, we compiled the testing reports of 649 probands with pathogenic/likely pathogenic variants referred to 28 public and private health care centers distributed across 11 Brazilian States. Overall, 126 and 103 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-six novel variants were reported from both genes, and BRCA2 showed higher mutational heterogeneity. Some recurrent mutations were reported exclusively in certain geographic regions, suggesting a founder effect. Our findings confirm that there is significant molecular heterogeneity in these genes among Brazilian carriers, while also suggesting that this heterogeneity precludes the use of screening protocols that include recurrent mutation testing only. This is the first study to show that profiles of recurrent mutations may be unique to different Brazilian regions. These data should be explored in larger regional cohorts to determine if screening with a panel of recurrent mutations would be effective.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/28925/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALfernandor_vargas_etal_IOC-2018.pdffernandor_vargas_etal_IOC-2018.pdfapplication/pdf2482762https://www.arca.fiocruz.br/bitstream/icict/28925/2/fernandor_vargas_etal_IOC-2018.pdf05f2e87fbe59874d3950ac05ef3e4868MD52TEXTfernandor_vargas_etal_IOC-2018.pdf.txtfernandor_vargas_etal_IOC-2018.pdf.txtExtracted texttext/plain45775https://www.arca.fiocruz.br/bitstream/icict/28925/3/fernandor_vargas_etal_IOC-2018.pdf.txt15cbc2aaf93cb8a6ad54b979507e468fMD53icict/289252019-11-09 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| dc.title.pt_BR.fl_str_mv |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| title |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| spellingShingle |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil Palmero, Edenir Inêz BRCA1 BRCA2 Mutações germinativas Brasil BRCA1 BRCA2 Germline mutations Brazil |
| title_short |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| title_full |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| title_fullStr |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| title_full_unstemmed |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| title_sort |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil |
| author |
Palmero, Edenir Inêz |
| author_facet |
Palmero, Edenir Inêz Carraro, Dirce Maria Alemar, Barbara Moreira, Miguel Angelo Martins Santos, Ândrea Ribeiro dos Abe-Sandes, Kiyoko Galvão, Henrique Campos Reis Reis, Rui Manuel Souza, Cristiano de Pádua Campacci, Natalia Achatz, Maria Isabel Brianese, Rafael Canfeld Formiga, Maria Nirvana da Cruz Makdissi, Fabiana Baroni Vargas, Fernando Regla Santos, Anna Cláudia Evangelista dos Seuanez, Hector N. Souza, Kelly Rose Lobo de Netto, Cristina B. O. Silva, Patrícia Santos Silva, Gustavo Stumpf da Burbano, Rommel M. R. Santos, Sidney Assumpção, Paulo Pimentel Bernardes, Izabel Maria Monteiro Lopes, Taisa Manuela Bonfim Machado Bomfim, Thais Ferreira Torrales, Maria Betânia Pereira Nascimento, Ivana Garicochea, Bernardo Simon, Sergio D. Noronha, Simone Lima, Fernanda Teresa de Chami, Anisse Marques Bittar, Camila Matzenbacher Bines, Jose Artigalas, Osvaldo Esteves-Diz, Maria Del Pilar Lajus, Tirzah Braz Petta Gifoni, Ana Carolina Leite Vieira Costa Guindalini, Rodrigo S. C. Cintra, Terezinha Sarquis Schwartz, Ida V. D. Bernardi, Pricila Miguel, Diego Nogueira, Sonia Tereza dos Santos Herzog, Josef Weitzel, Jefrey N. Ashton-Prolla, Patricia |
| author_role |
author |
| author2 |
Carraro, Dirce Maria Alemar, Barbara Moreira, Miguel Angelo Martins Santos, Ândrea Ribeiro dos Abe-Sandes, Kiyoko Galvão, Henrique Campos Reis Reis, Rui Manuel Souza, Cristiano de Pádua Campacci, Natalia Achatz, Maria Isabel Brianese, Rafael Canfeld Formiga, Maria Nirvana da Cruz Makdissi, Fabiana Baroni Vargas, Fernando Regla Santos, Anna Cláudia Evangelista dos Seuanez, Hector N. Souza, Kelly Rose Lobo de Netto, Cristina B. O. Silva, Patrícia Santos Silva, Gustavo Stumpf da Burbano, Rommel M. R. Santos, Sidney Assumpção, Paulo Pimentel Bernardes, Izabel Maria Monteiro Lopes, Taisa Manuela Bonfim Machado Bomfim, Thais Ferreira Torrales, Maria Betânia Pereira Nascimento, Ivana Garicochea, Bernardo Simon, Sergio D. Noronha, Simone Lima, Fernanda Teresa de Chami, Anisse Marques Bittar, Camila Matzenbacher Bines, Jose Artigalas, Osvaldo Esteves-Diz, Maria Del Pilar Lajus, Tirzah Braz Petta Gifoni, Ana Carolina Leite Vieira Costa Guindalini, Rodrigo S. C. Cintra, Terezinha Sarquis Schwartz, Ida V. D. Bernardi, Pricila Miguel, Diego Nogueira, Sonia Tereza dos Santos Herzog, Josef Weitzel, Jefrey N. Ashton-Prolla, Patricia |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Palmero, Edenir Inêz Carraro, Dirce Maria Alemar, Barbara Moreira, Miguel Angelo Martins Santos, Ândrea Ribeiro dos Abe-Sandes, Kiyoko Galvão, Henrique Campos Reis Reis, Rui Manuel Souza, Cristiano de Pádua Campacci, Natalia Achatz, Maria Isabel Brianese, Rafael Canfeld Formiga, Maria Nirvana da Cruz Makdissi, Fabiana Baroni Vargas, Fernando Regla Santos, Anna Cláudia Evangelista dos Seuanez, Hector N. Souza, Kelly Rose Lobo de Netto, Cristina B. O. Silva, Patrícia Santos Silva, Gustavo Stumpf da Burbano, Rommel M. R. Santos, Sidney Assumpção, Paulo Pimentel Bernardes, Izabel Maria Monteiro Lopes, Taisa Manuela Bonfim Machado Bomfim, Thais Ferreira Torrales, Maria Betânia Pereira Nascimento, Ivana Garicochea, Bernardo Simon, Sergio D. Noronha, Simone Lima, Fernanda Teresa de Chami, Anisse Marques Bittar, Camila Matzenbacher Bines, Jose Artigalas, Osvaldo Esteves-Diz, Maria Del Pilar Lajus, Tirzah Braz Petta Gifoni, Ana Carolina Leite Vieira Costa Guindalini, Rodrigo S. C. Cintra, Terezinha Sarquis Schwartz, Ida V. D. Bernardi, Pricila Miguel, Diego Nogueira, Sonia Tereza dos Santos Herzog, Josef Weitzel, Jefrey N. Ashton-Prolla, Patricia |
| dc.subject.other.pt_BR.fl_str_mv |
BRCA1 BRCA2 Mutações germinativas Brasil |
| topic |
BRCA1 BRCA2 Mutações germinativas Brasil BRCA1 BRCA2 Germline mutations Brazil |
| dc.subject.en.pt_BR.fl_str_mv |
BRCA1 BRCA2 Germline mutations Brazil |
| description |
Hospital do Câncer de Barretos. Centro de Pesquisa de Oncologia Molecular. Barretos, SP, Brasil / Faculdade de Ciências da Saúde de Barretos Dr. Paulo Prata. Escola de Ciências da Saúde de Barretos, Barretos, SP, Brasil. |
| publishDate |
2018 |
| dc.date.accessioned.fl_str_mv |
2018-09-20T12:17:50Z |
| dc.date.available.fl_str_mv |
2018-09-20T12:17:50Z |
| dc.date.issued.fl_str_mv |
2018 |
| dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| status_str |
publishedVersion |
| dc.identifier.citation.fl_str_mv |
PALMERO, Edenir Inêz et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Scientific Reports, v. 8, p. 1-10, June 2018. |
| dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/28925 |
| dc.identifier.issn.pt_BR.fl_str_mv |
2045-2322 |
| dc.identifier.doi.pt_BR.fl_str_mv |
10.1038/s41598-018-27315-2 |
| dc.identifier.eissn.none.fl_str_mv |
2045-2322 |
| identifier_str_mv |
PALMERO, Edenir Inêz et al. The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Scientific Reports, v. 8, p. 1-10, June 2018. 2045-2322 10.1038/s41598-018-27315-2 |
| url |
https://www.arca.fiocruz.br/handle/icict/28925 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
| dc.publisher.none.fl_str_mv |
Nature Publishing Group |
| publisher.none.fl_str_mv |
Nature Publishing Group |
| dc.source.none.fl_str_mv |
reponame:Repositório Institucional da FIOCRUZ (ARCA) instname:Fundação Oswaldo Cruz (FIOCRUZ) instacron:FIOCRUZ |
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Repositório Institucional da FIOCRUZ (ARCA) |
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https://www.arca.fiocruz.br/bitstream/icict/28925/1/license.txt https://www.arca.fiocruz.br/bitstream/icict/28925/2/fernandor_vargas_etal_IOC-2018.pdf https://www.arca.fiocruz.br/bitstream/icict/28925/3/fernandor_vargas_etal_IOC-2018.pdf.txt |
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5a560609d32a3863062d77ff32785d58 05f2e87fbe59874d3950ac05ef3e4868 15cbc2aaf93cb8a6ad54b979507e468f |
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MD5 MD5 MD5 |
| repository.name.fl_str_mv |
Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ) |
| repository.mail.fl_str_mv |
repositorio.arca@fiocruz.br |
| _version_ |
1813009176098504704 |