Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

Detalhes bibliográficos
Autor(a) principal: Ashton-Prolla, Patrícia
Data de Publicação: 2014
Outros Autores: Vargas, Fernando Regla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/10323
Resumo: Universidade Federal do Rio Grande do Sul.Departamento de Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica e Centro de Pesquisa Experimental. Porto Alegre, RS, Brasil.
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spelling Ashton-Prolla, PatríciaVargas, Fernando Regla2015-05-15T13:16:42Z2015-05-15T13:16:42Z2014ASHTON-PROLLA, Patrícia; VARGAS, Fernando Regla. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.234-240, 2014.14154757https://www.arca.fiocruz.br/handle/icict/1032310.1590/S1415-47572014000200009engSociedade Brasileira de GenéticaGenesCâncer de mamaPredisposição Genética para DoençaBreast cancer genesBRCA1BRCA2TP53Cancer predispositionPrevalence and impact of founder mutations in hereditary breast cancer in Latin Americainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleUniversidade Federal do Rio Grande do Sul.Departamento de Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica e Centro de Pesquisa Experimental. Porto Alegre, RS, Brasil.Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil. Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.Approximately 10% of all cancers are considered hereditary and are primarily caused by germline, high penetrance mutations in cancer predisposition genes. Although most cancer predisposition genes are considered molecularly heterogeneous, displaying hundreds of different disease-causing sequence alterations, founder mutations have been identified in certain populations. In some Latin American countries, founder mutations associated with increased risk of breast and other cancers have been described. This is particularly interesting considering that in most of these countries, populations are highly admixed with genetic contributions from native populations and from the influx of several distinct populations of immigrants. In this article, we present a review of the scientific literature on the subject and describe current data available on founder mutations described in the most common breast cancer predisposition genes: BRCA1, BRCA2 and TP53.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txttext/plain1914https://www.arca.fiocruz.br/bitstream/icict/10323/1/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD51ORIGINALfernando_vargasepatricia_IOC_2014.pdfapplication/pdf498389https://www.arca.fiocruz.br/bitstream/icict/10323/2/fernando_vargasepatricia_IOC_2014.pdf544559342d6648eaac4cedba48a2146eMD52TEXTfernando_vargasepatricia_IOC_2014.pdf.txtfernando_vargasepatricia_IOC_2014.pdf.txtExtracted texttext/plain36605https://www.arca.fiocruz.br/bitstream/icict/10323/3/fernando_vargasepatricia_IOC_2014.pdf.txta054baded52bad1150b24390049cb621MD53icict/103232022-06-24 12:17:36.174oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352022-06-24T15:17:36Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
title Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
spellingShingle Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
Ashton-Prolla, Patrícia
Genes
Câncer de mama
Predisposição Genética para Doença
Breast cancer genes
BRCA1
BRCA2
TP53
Cancer predisposition
title_short Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
title_full Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
title_fullStr Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
title_full_unstemmed Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
title_sort Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
author Ashton-Prolla, Patrícia
author_facet Ashton-Prolla, Patrícia
Vargas, Fernando Regla
author_role author
author2 Vargas, Fernando Regla
author2_role author
dc.contributor.author.fl_str_mv Ashton-Prolla, Patrícia
Vargas, Fernando Regla
dc.subject.other.pt_BR.fl_str_mv Genes
Câncer de mama
Predisposição Genética para Doença
topic Genes
Câncer de mama
Predisposição Genética para Doença
Breast cancer genes
BRCA1
BRCA2
TP53
Cancer predisposition
dc.subject.en.pt_BR.fl_str_mv Breast cancer genes
BRCA1
BRCA2
TP53
Cancer predisposition
description Universidade Federal do Rio Grande do Sul.Departamento de Genética. Porto Alegre, RS, Brasil / Hospital de Clínicas de Porto Alegre. Serviço de Genética Médica e Centro de Pesquisa Experimental. Porto Alegre, RS, Brasil.
publishDate 2014
dc.date.issued.fl_str_mv 2014
dc.date.accessioned.fl_str_mv 2015-05-15T13:16:42Z
dc.date.available.fl_str_mv 2015-05-15T13:16:42Z
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 ASHTON-PROLLA, Patrícia; VARGAS, Fernando Regla. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.234-240, 2014.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/10323
dc.identifier.issn.pt_BR.fl_str_mv 14154757
dc.identifier.doi.pt_BR.fl_str_mv 10.1590/S1415-47572014000200009
identifier_str_mv ASHTON-PROLLA, Patrícia; VARGAS, Fernando Regla. Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genetics and Molecular Biology, v.37, n.1, (suppl), p.234-240, 2014.
14154757
10.1590/S1415-47572014000200009
url https://www.arca.fiocruz.br/handle/icict/10323
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
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