Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Revista Brasileira de Cancerologia (Online) |
Texto Completo: | https://rbc.inca.gov.br/index.php/revista/article/view/1854 |
Resumo: | Breast cancer genetic susceptibility shows two opposite extremes: 1) monogenetic diseases with high penetration, i.e., the inherited mutations in the BRCA1 and BRCA2 genes related to hereditary breast cancers and 2) polymorphisms, which are highly frequent mutations, including 40 to 50% of the population (e.g., polymorphism in the glutathione-S enzyme super-family, glutathione-S transferase (GST) class, present in 50% of Caucasians), with a slightly increased individual risk. Polymorphisms refer to variations in the DNA sequence of genes that code for certain enzymes. Such sequence variations give rise to proteins with variable activity and with different metabolic capacities in population subgroups or single individuals. Based on an extensive review of the Lilacs and Medline databases, where the main studies on this subject were published, the current article aims to provide a comprehensive view of this vast and increasingly important theme. Due to the large number of polymorphisms, the focus was limited to two classes associated with the greatest breast cancer risk: PROGINS and GST. Data in the literature show some disagreement, and national studies are necessary to determine the real prevalence of such polymorphisms in Brazil and to analyze their correlations with breast cancer. |
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Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature reviewPolimorfismo em gene do receptor da progesterona (PROGINS) e da glutationa S-transferase (GST) e risco de câncer da mama: revisão de literaturaNeoplasias mamáriasPolimorfismo genéticoReceptores de progesterona e GSTBreast cancerPROGINGSTBreast cancer genetic susceptibility shows two opposite extremes: 1) monogenetic diseases with high penetration, i.e., the inherited mutations in the BRCA1 and BRCA2 genes related to hereditary breast cancers and 2) polymorphisms, which are highly frequent mutations, including 40 to 50% of the population (e.g., polymorphism in the glutathione-S enzyme super-family, glutathione-S transferase (GST) class, present in 50% of Caucasians), with a slightly increased individual risk. Polymorphisms refer to variations in the DNA sequence of genes that code for certain enzymes. Such sequence variations give rise to proteins with variable activity and with different metabolic capacities in population subgroups or single individuals. Based on an extensive review of the Lilacs and Medline databases, where the main studies on this subject were published, the current article aims to provide a comprehensive view of this vast and increasingly important theme. Due to the large number of polymorphisms, the focus was limited to two classes associated with the greatest breast cancer risk: PROGINS and GST. Data in the literature show some disagreement, and national studies are necessary to determine the real prevalence of such polymorphisms in Brazil and to analyze their correlations with breast cancer.A suscetibilidade genética ao câncer da mama compreende dois extremos. Em um, encontram-se as enfermidades monogênicas de elevada penetrância, que são aquelas mutações herdadas dos genes BRCA1 e BRCA2, relacionados aos cânceres hereditários da mama. No outro extremo, encontram-se os polimorfismos, que são mutações muito freqüentes, da ordem de 40 a 50% da população (como é o caso do polimorfismo nas enzimas da superfamília da glutationa S- transferase da classe GST, presente em 50% dos caucasianos), com um pequeno aumento do risco individual. Quando falamos de polimorfismos, nos referimos a variações na seqüência do DNA dos genes que codificam determinadas enzimas. Essas variações na seqüência originam proteínas com atividades variáveis e com diferentes capacidades metabólicas, por parte de subgrupos de populações ou por indivíduos isolados. Almeja-se, no presente estudo, mostrar, através de extensa revisão de literatura em periódicos indexados no Lilacs e Medline, onde foram incluídos os principais estudos sobre o assunto, uma visão ampla e global desse tema. Devido ao grande número de polimorfismos, iremos deter-nos a duas classes associadas a maior risco de câncer da mama: PROGINS e GST. São discordantes os dados da literatura, e estudos nacionais são necessários para determinar a real prevalência desses polimorfismos no Brasil e analisar suas correlações com o câncer da mama.INCA2006-12-29info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRevisão de literaturaapplication/pdfhttps://rbc.inca.gov.br/index.php/revista/article/view/185410.32635/2176-9745.RBC.2006v52n4.1854Revista Brasileira de Cancerologia; Vol. 52 No. 4 (2006): Oct.Nov./Dec.; 387-393Revista Brasileira de Cancerologia; Vol. 52 Núm. 4 (2006): oct./nov./dic.; 387-393Revista Brasileira de Cancerologia; v. 52 n. 4 (2006): out./nov./dez.; 387-3932176-9745reponame:Revista Brasileira de Cancerologia (Online)instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)instacron:INCAporhttps://rbc.inca.gov.br/index.php/revista/article/view/1854/1128Linhares, José Juvenal Silva, Ismael Dale Cotrim Guerreiro da Noronha, Emmanuelle Coelho Ferraro, Odair Baracat, Fausto Farah info:eu-repo/semantics/openAccess2021-11-29T20:27:08Zoai:rbc.inca.gov.br:article/1854Revistahttps://rbc.inca.gov.br/index.php/revistaPUBhttps://rbc.inca.gov.br/index.php/revista/oairbc@inca.gov.br0034-71162176-9745opendoar:2021-11-29T20:27:08Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)false |
dc.title.none.fl_str_mv |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review Polimorfismo em gene do receptor da progesterona (PROGINS) e da glutationa S-transferase (GST) e risco de câncer da mama: revisão de literatura |
title |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
spellingShingle |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review Linhares, José Juvenal Neoplasias mamárias Polimorfismo genético Receptores de progesterona e GST Breast cancer PROGIN GST |
title_short |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
title_full |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
title_fullStr |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
title_full_unstemmed |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
title_sort |
Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review |
author |
Linhares, José Juvenal |
author_facet |
Linhares, José Juvenal Silva, Ismael Dale Cotrim Guerreiro da Noronha, Emmanuelle Coelho Ferraro, Odair Baracat, Fausto Farah |
author_role |
author |
author2 |
Silva, Ismael Dale Cotrim Guerreiro da Noronha, Emmanuelle Coelho Ferraro, Odair Baracat, Fausto Farah |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Linhares, José Juvenal Silva, Ismael Dale Cotrim Guerreiro da Noronha, Emmanuelle Coelho Ferraro, Odair Baracat, Fausto Farah |
dc.subject.por.fl_str_mv |
Neoplasias mamárias Polimorfismo genético Receptores de progesterona e GST Breast cancer PROGIN GST |
topic |
Neoplasias mamárias Polimorfismo genético Receptores de progesterona e GST Breast cancer PROGIN GST |
description |
Breast cancer genetic susceptibility shows two opposite extremes: 1) monogenetic diseases with high penetration, i.e., the inherited mutations in the BRCA1 and BRCA2 genes related to hereditary breast cancers and 2) polymorphisms, which are highly frequent mutations, including 40 to 50% of the population (e.g., polymorphism in the glutathione-S enzyme super-family, glutathione-S transferase (GST) class, present in 50% of Caucasians), with a slightly increased individual risk. Polymorphisms refer to variations in the DNA sequence of genes that code for certain enzymes. Such sequence variations give rise to proteins with variable activity and with different metabolic capacities in population subgroups or single individuals. Based on an extensive review of the Lilacs and Medline databases, where the main studies on this subject were published, the current article aims to provide a comprehensive view of this vast and increasingly important theme. Due to the large number of polymorphisms, the focus was limited to two classes associated with the greatest breast cancer risk: PROGINS and GST. Data in the literature show some disagreement, and national studies are necessary to determine the real prevalence of such polymorphisms in Brazil and to analyze their correlations with breast cancer. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-12-29 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Revisão de literatura |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://rbc.inca.gov.br/index.php/revista/article/view/1854 10.32635/2176-9745.RBC.2006v52n4.1854 |
url |
https://rbc.inca.gov.br/index.php/revista/article/view/1854 |
identifier_str_mv |
10.32635/2176-9745.RBC.2006v52n4.1854 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://rbc.inca.gov.br/index.php/revista/article/view/1854/1128 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
INCA |
publisher.none.fl_str_mv |
INCA |
dc.source.none.fl_str_mv |
Revista Brasileira de Cancerologia; Vol. 52 No. 4 (2006): Oct.Nov./Dec.; 387-393 Revista Brasileira de Cancerologia; Vol. 52 Núm. 4 (2006): oct./nov./dic.; 387-393 Revista Brasileira de Cancerologia; v. 52 n. 4 (2006): out./nov./dez.; 387-393 2176-9745 reponame:Revista Brasileira de Cancerologia (Online) instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) instacron:INCA |
instname_str |
Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) |
instacron_str |
INCA |
institution |
INCA |
reponame_str |
Revista Brasileira de Cancerologia (Online) |
collection |
Revista Brasileira de Cancerologia (Online) |
repository.name.fl_str_mv |
Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) |
repository.mail.fl_str_mv |
rbc@inca.gov.br |
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1797042248199700480 |