Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2007 |
| Outros Autores: | , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | por |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/414 |
Resumo: | Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Oncologia. Rio de Janeiro, RJ, Brasil. |
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Gomes, Magda C. B.Costa, Maurício M.Borojevic, RadovanMonteiro, Alvaro N. A.Vieira, RobertoKoifman, SergioKoifman, Rosalina JorgeLi, SongRobert RoyerShiyu ZhangSteven A. Narod2010-08-23T16:00:32Z2010-08-23T16:00:32Z2007GOMES, Magda C. B. et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat, Dordrecth, v. 103, n. 3, p. 349-353, jul. 2007.1573-7217https://www.arca.fiocruz.br/handle/icict/41410.1590/S0100-879X2009000500009porPrevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Oncologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Obstetrícia e Ginecologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Ciência Biomédicas. Departamento de Histologia e Embriologia. Rio de Janeiro, RJ, Brasil.University of South Florida. College of Medicine. Department of Interdisciplinary Oncology. Tampa, FL, USA.Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Escola Nacional de Saúde Pública. Departamento de Epidemiologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Escola Nacional de Saúde Pública. Departamento de Epidemiologia. Rio de Janeiro, RJ, Brasil.University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.University of Toronto. The Centre for Research in Women’s Health. Toronto, ON, CanadaUniversity of Toronto. The Centre for Research in Women’s Health. Toronto, ON, Canada.The contribution of BRCA1 and BRCA2 to breast cancer incidence in Brazil has not yet been explored. In order to estimate the proportion of breast cancers due to BRCA1 and BRCA2 mutations in Brazil,we conducted a study of unselected breast cancer patients from Rio de Janeiro, Brazil. We enrolled 402 women with breast cancer from a large public hospital and two private medical clinics in the city. A detailed family history was obtained from each patient and a blood sample was obtained for DNA analysis. Mutations in BRCA1 and BRCA2 were sought using a combination of techniques, but all mutations were confirmed by direct sequencing. Overall, nine mutations were identified (six in BRCA1 and three in BRCA2) representing 2.3 percent of the total. The most common mutation, 5382insC in BRCA1, was seen five times and accounted for 56 percent of all identified mutations. A second mutation, in BRCA2 (6633del5) was seen in two unrelated women. In summary, BRCA1 and BRCA2 mutations are not uncommon in Brazilian women with breast cancer. It appears that a small number of founder mutations may be predominant. Moreover, a small number of founder mutations may be prevalent in Brazil, raising the possibility that a rapid and inexpensive genetic test may be developed to screen for inherited susceptibility to breast cancer in Brazil.BRCA1BRCA2Breast CancerHereditaryNeoplasias da Mama - genéticaGenes BRCA1Genes BRCA2Testes GenéticosMutaçãoinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1878https://www.arca.fiocruz.br/bitstream/icict/414/1/license.txt4ab65ca798f15d32db061c8ec1b00ab1MD51ORIGINALPrevalence of BRCA1.pdfapplication/pdf115148https://www.arca.fiocruz.br/bitstream/icict/414/2/Prevalence%20of%20BRCA1.pdffd0ee9441fe420296391d76b0679ad70MD52TEXTPrevalence of BRCA1.pdf.txtPrevalence of BRCA1.pdf.txtExtracted texttext/plain20631https://www.arca.fiocruz.br/bitstream/icict/414/5/Prevalence%20of%20BRCA1.pdf.txt4461b17c2014787f71773b7caf2348d1MD55THUMBNAILPrevalence of BRCA1.pdf.jpgPrevalence of BRCA1.pdf.jpgGenerated Thumbnailimage/jpeg2084https://www.arca.fiocruz.br/bitstream/icict/414/4/Prevalence%20of%20BRCA1.pdf.jpg802cf011ab6d51b63a23c1c6196a7d6cMD54icict/4142023-01-13 10:23:50.993oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352023-01-13T13:23:50Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false |
| dc.title.pt_BR.fl_str_mv |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| title |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| spellingShingle |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil Gomes, Magda C. B. BRCA1 BRCA2 Breast Cancer Hereditary Neoplasias da Mama - genética Genes BRCA1 Genes BRCA2 Testes Genéticos Mutação |
| title_short |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| title_full |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| title_fullStr |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| title_full_unstemmed |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| title_sort |
Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil |
| author |
Gomes, Magda C. B. |
| author_facet |
Gomes, Magda C. B. Costa, Maurício M. Borojevic, Radovan Monteiro, Alvaro N. A. Vieira, Roberto Koifman, Sergio Koifman, Rosalina Jorge Li, Song Robert Royer Shiyu Zhang Steven A. Narod |
| author_role |
author |
| author2 |
Costa, Maurício M. Borojevic, Radovan Monteiro, Alvaro N. A. Vieira, Roberto Koifman, Sergio Koifman, Rosalina Jorge Li, Song Robert Royer Shiyu Zhang Steven A. Narod |
| author2_role |
author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Gomes, Magda C. B. Costa, Maurício M. Borojevic, Radovan Monteiro, Alvaro N. A. Vieira, Roberto Koifman, Sergio Koifman, Rosalina Jorge Li, Song Robert Royer Shiyu Zhang Steven A. Narod |
| dc.subject.en.none.fl_str_mv |
BRCA1 BRCA2 Breast Cancer Hereditary |
| topic |
BRCA1 BRCA2 Breast Cancer Hereditary Neoplasias da Mama - genética Genes BRCA1 Genes BRCA2 Testes Genéticos Mutação |
| dc.subject.decs.none.fl_str_mv |
Neoplasias da Mama - genética Genes BRCA1 Genes BRCA2 Testes Genéticos Mutação |
| description |
Universidade Federal do Rio de Janeiro. Hospital Universitário Clementino Fraga Filho. Departamento de Oncologia. Rio de Janeiro, RJ, Brasil. |
| publishDate |
2007 |
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2007 |
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2010-08-23T16:00:32Z |
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2010-08-23T16:00:32Z |
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info:eu-repo/semantics/article |
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article |
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GOMES, Magda C. B. et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat, Dordrecth, v. 103, n. 3, p. 349-353, jul. 2007. |
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10.1590/S0100-879X2009000500009 |
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GOMES, Magda C. B. et al. Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast Cancer Res Treat, Dordrecth, v. 103, n. 3, p. 349-353, jul. 2007. 1573-7217 10.1590/S0100-879X2009000500009 |
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