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

Detalhes bibliográficos
Autor(a) principal: Ashton-Prolla,Patricia
Data de Publicação: 2014
Outros Autores: Vargas,Fernando Regla
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009
Resumo: 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.
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spelling Prevalence and impact of founder mutations in hereditary breast cancer in Latin Americabreast cancer genesBRCA1BRCA2TP53cancer predispositionApproximately 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.Sociedade Brasileira de Genética2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009Genetics and Molecular Biology v.37 n.1 suppl.1 2014reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572014000200009info:eu-repo/semantics/openAccessAshton-Prolla,PatriciaVargas,Fernando Reglaeng2014-05-21T00:00:00Zoai:scielo:S1415-47572014000200009Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2014-05-21T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.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,Patricia
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,Patricia
author_facet Ashton-Prolla,Patricia
Vargas,Fernando Regla
author_role author
author2 Vargas,Fernando Regla
author2_role author
dc.contributor.author.fl_str_mv Ashton-Prolla,Patricia
Vargas,Fernando Regla
dc.subject.por.fl_str_mv breast cancer genes
BRCA1
BRCA2
TP53
cancer predisposition
topic breast cancer genes
BRCA1
BRCA2
TP53
cancer predisposition
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-01-01
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572014000200009
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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 Genetics and Molecular Biology v.37 n.1 suppl.1 2014
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
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