Prevalence and impact of founder mutations in hereditary breast cancer in Latin America
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | |
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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Genetics and Molecular Biology |
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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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200009 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572014000200009 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
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) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122385855676416 |