BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2016 |
| 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/16431 |
Resumo: | Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil. |
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Ewald, Ingrid PetroniCossio, Silvia LilianaPalmero, Edenir InezPinheiro, ManuelaNascimento, Ivana Lucia de OliveiraMachado, Taisa Manuela BonfimSandes, Kiyoko AbeToralles, BetâniaGaricochea, BernardoIzetti, PatriciaPereira, Maria Luiza SaraivaBock, HugoVargas, Fernando ReglaMoreira, Miguel Ângelo MartinsPeixoto, AnaTeixeira, Manuel R.Prolla, Patricia Ashton2016-12-06T11:06:50Z2016-12-06T11:06:50Z2016EWALD, Ingrid Petroni; et al. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. Genetics and Molecular Biology, v.39, n.2, p.223-231, 2016.1415-4757https://www.arca.fiocruz.br/handle/icict/1643110.1590/1678-4685-GMB-2014-03501678-4685engSociedade Brasileira de GenéticaCâncer de mamaRearranjos de genesCâncer hereditário de mama e ováriogenes BRCABreast cancerHereditary Breast and Ovarian Cancer syndromegene rearrangementsBRCA geneBRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleHospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil.Hospital do Câncer de Barretos. Centro de Pesquisa em Oncologia Molecular. Barretos, SP, Brasil.Instituto Português de Oncologia do Porto. Departamento de Genética. Porto, Portugal.Universidade Federal da Bahia (UFBA). Instituto de Ciências da Saúde (ICS). Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia (UFBA). Instituto de Ciências da Saúde (ICS). Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia (UFBA). Instituto de Ciências da Saúde (ICS). Laboratório de Imunologia e Biologia Molecular. Salvador, BA, Brasil.Universidade Federal da Bahia (UFBA). Departamento de Pediatria. Salvador, BA, Brasil.Hospital Sírio Libanês. Centro de Oncologia. São Paulo, SP, Brasil.Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil.Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Departamento de Bioquímica. Porto Alegre, RS, Brasil.Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Identificação Genética. Porto Alegre, RS, Brasil.Instituto Nacional de Câncer (INCA). Divisão de Genética. Rio de Janeiro, RJ, Brasil / Hospital de Clínicas de Porto Alegre (HCPA). Instituto Nacional de Genética Médica Populacional (INAGEMP). Porto Alegre, RS, Brasil.Instituto Nacional de Câncer (INCA). Divisão de Genética. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genômica Funcional e Bioinformática. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro (UFRJ). Centro de Ciências Biológicas e da Saúde. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Instituto Português de Oncologia do Porto. Departamento de Genética. Porto, Portugal.Instituto Português de Oncologia do Porto. Departamento de Genética. Porto, Portugal / Instituto de Ciências Biomédicas Abel Salazar (ICBAS). Porto, Portugal..Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre (HCPA). Serviço de Genética Médica. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre (HCPA). Instituto Nacional de Genética Médica Populacional (INAGEMP). Porto Alegre, RS, Brasil.Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.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/16431/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALmiguel_moreira_etal_IOC_2016.pdfmiguel_moreira_etal_IOC_2016.pdfapplication/pdf1912963https://www.arca.fiocruz.br/bitstream/icict/16431/2/miguel_moreira_etal_IOC_2016.pdf9b8f85a68e36bddedef0971400071b42MD52TEXTmiguel_moreira_etal_IOC_2016.pdf.txtmiguel_moreira_etal_IOC_2016.pdf.txtExtracted texttext/plain35449https://www.arca.fiocruz.br/bitstream/icict/16431/3/miguel_moreira_etal_IOC_2016.pdf.txtb4a04144145a7a0a828755c2d889fbf5MD53icict/164312018-08-15 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| dc.title.pt_BR.fl_str_mv |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| title |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| spellingShingle |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome Ewald, Ingrid Petroni Câncer de mama Rearranjos de genes Câncer hereditário de mama e ovário genes BRCA Breast cancer Hereditary Breast and Ovarian Cancer syndrome gene rearrangements BRCA gene |
| title_short |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| title_full |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| title_fullStr |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| title_full_unstemmed |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| title_sort |
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome |
| author |
Ewald, Ingrid Petroni |
| author_facet |
Ewald, Ingrid Petroni Cossio, Silvia Liliana Palmero, Edenir Inez Pinheiro, Manuela Nascimento, Ivana Lucia de Oliveira Machado, Taisa Manuela Bonfim Sandes, Kiyoko Abe Toralles, Betânia Garicochea, Bernardo Izetti, Patricia Pereira, Maria Luiza Saraiva Bock, Hugo Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Peixoto, Ana Teixeira, Manuel R. Prolla, Patricia Ashton |
| author_role |
author |
| author2 |
Cossio, Silvia Liliana Palmero, Edenir Inez Pinheiro, Manuela Nascimento, Ivana Lucia de Oliveira Machado, Taisa Manuela Bonfim Sandes, Kiyoko Abe Toralles, Betânia Garicochea, Bernardo Izetti, Patricia Pereira, Maria Luiza Saraiva Bock, Hugo Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Peixoto, Ana Teixeira, Manuel R. Prolla, Patricia Ashton |
| author2_role |
author author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Ewald, Ingrid Petroni Cossio, Silvia Liliana Palmero, Edenir Inez Pinheiro, Manuela Nascimento, Ivana Lucia de Oliveira Machado, Taisa Manuela Bonfim Sandes, Kiyoko Abe Toralles, Betânia Garicochea, Bernardo Izetti, Patricia Pereira, Maria Luiza Saraiva Bock, Hugo Vargas, Fernando Regla Moreira, Miguel Ângelo Martins Peixoto, Ana Teixeira, Manuel R. Prolla, Patricia Ashton |
| dc.subject.other.pt_BR.fl_str_mv |
Câncer de mama Rearranjos de genes Câncer hereditário de mama e ovário genes BRCA |
| topic |
Câncer de mama Rearranjos de genes Câncer hereditário de mama e ovário genes BRCA Breast cancer Hereditary Breast and Ovarian Cancer syndrome gene rearrangements BRCA gene |
| dc.subject.en.pt_BR.fl_str_mv |
Breast cancer Hereditary Breast and Ovarian Cancer syndrome gene rearrangements BRCA gene |
| description |
Hospital de Clínicas de Porto Alegre (HCPA). Laboratório de Medicina Genômica. Porto Alegre, RS, Brasil / Universidade Federal do Rio Grande do Sul (UFRGS). Programa de Pós-Graduação em Medicina: Ciências Médicas. Porto Alegre, RS, Brasil. |
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2016 |
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2016-12-06T11:06:50Z |
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2016-12-06T11:06:50Z |
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2016 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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EWALD, Ingrid Petroni; et al. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. Genetics and Molecular Biology, v.39, n.2, p.223-231, 2016. |
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https://www.arca.fiocruz.br/handle/icict/16431 |
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1415-4757 |
| dc.identifier.doi.none.fl_str_mv |
10.1590/1678-4685-GMB-2014-0350 |
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1678-4685 |
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EWALD, Ingrid Petroni; et al. BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. Genetics and Molecular Biology, v.39, n.2, p.223-231, 2016. 1415-4757 10.1590/1678-4685-GMB-2014-0350 1678-4685 |
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openAccess |
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Sociedade Brasileira de Genética |
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Sociedade Brasileira de Genética |
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