Gene polymorphisms in the human progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) and risk of breast cancer: a literature review

Detalhes bibliográficos
Autor(a) principal: Linhares, José Juvenal
Data de Publicação: 2006
Outros Autores: Silva, Ismael Dale Cotrim Guerreiro da, Noronha, Emmanuelle Coelho, Ferraro, Odair, Baracat, Fausto Farah
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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spelling 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
dc.format.none.fl_str_mv 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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