Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2013 |
| 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/513 |
Resumo: | Introduction: The characterization of molecular alterations in breast lesions suspicious for malignancy is not well defined. It is known that early detection of breast cancer greatly increases the chances of cure. Thus, it is required the survey for tumor markers may help establish an early diagnosis and confidently predict whether these lesions are benign or malignant. In the process of carcinogenesis, there are several changes in gene expression, which involves several key genes that control the cell cycle. Among the genes, TP53 has been widely studied for its mutations and variations, which may be involved in breast carcinogenesis. Case report: A female patient, aged 45, white, married, resident of the state of Rio de Janeiro with grade 2, multifocal Carcinoma Ductal in situ. Positive injury in estrogen and progesterone hormone receptors, with no somatic mutation and presence of variants 213A→G and 13494G→A in exon 6 and intron 6 of TP53. Conclusion: Although considered individually neutral, the synergistic effect of 213A→G and 13494G→A variants is still unknown. |
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Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case ReportLa detección de Polimorfismos 213A→G y 13494G→A en el Gen TP53 en Carcinoma Ductal in Situ de Mama: Reporte de CasoDetecção dos Polimorfismos 213A→G e 13494G→A no Gene TP53 em Carcinoma Ductal in situ de Mama: Relato de CasoHumanosFemininoNeoplasias da Mama-patologiaGenes p53Polimorfismo GenéticoMarcadores Biológicos de TumorHumansFemaleBreast Neoplasms-patologyGenes p53Polymorphism, GeneticTumor Markers, BiologicalHumanosFemeninoNeoplasias de la Mama-patologíaGenes p53Polimorfismo GenéticoMarcadores Biológicos de TumorIntroduction: The characterization of molecular alterations in breast lesions suspicious for malignancy is not well defined. It is known that early detection of breast cancer greatly increases the chances of cure. Thus, it is required the survey for tumor markers may help establish an early diagnosis and confidently predict whether these lesions are benign or malignant. In the process of carcinogenesis, there are several changes in gene expression, which involves several key genes that control the cell cycle. Among the genes, TP53 has been widely studied for its mutations and variations, which may be involved in breast carcinogenesis. Case report: A female patient, aged 45, white, married, resident of the state of Rio de Janeiro with grade 2, multifocal Carcinoma Ductal in situ. Positive injury in estrogen and progesterone hormone receptors, with no somatic mutation and presence of variants 213A→G and 13494G→A in exon 6 and intron 6 of TP53. Conclusion: Although considered individually neutral, the synergistic effect of 213A→G and 13494G→A variants is still unknown.Introducción: Las características de las alteraciones moleculares en las lesiones mamarias con sospecha de malignidad todavía no están bien definidas. Se sabe que la constatación temprana de cáncer de mama aumenta en gran medida las posibilidades de cura. Por lo tanto, la búsqueda de señales tumorales para ayudar al diagnóstico precoz y predecir com seguridad si estas lesiones son benignas o malignas, se hace necesaria. En el proceso de la carcinogénesis, son vários los cambios en la expresión génica, lo que implica varios genes clave que controlan el ciclo celular. Entre los genes, el TP53 ha sido ampliamente investigado por presentar mutaciones y variaciones que pueden estar implicados en la carcinogenesis de mama. Caso clínico: Paciente de sexo femenino, 45 años, raza blanca, casada, residente en el estado de Rio de Janeiro con carcinoma ductal in situ de grado 2, multifocal. Lesión positiva para receptores de hormonas de estrógeno y progesterona, sin mutación somática y la presencia de variantes 213A→G y 13494G→A en el exón 6 y el intrón 6 del gen TP53. Conclusión: A pesar de que se hayan considerado de forma individual, neutral, no hay estudios que hayan evaluado el efecto sinérgico de las variantes 213A→G y 13494G→A. Introdução: A caracterização das alterações moleculares em lesões mamárias suspeitas para malignidade ainda não são bem definidas. Sabe-se que a detecção precoce do câncer de mama aumenta consideravelmente as chances de cura. Com isso, a busca por marcadores tumorais, a fim de auxiliar no diagnóstico precoce e predizer com confiança se essas lesões são benignas ou malignas, se faz necessária. No processo de carcinogênese, diversas são as alterações de expressão gênica, na qual envolve vários genes-chave que controlam o ciclo celular. Entre os genes, o TP53 tem sido amplamente pesquisado por apresentar mutações e variantes que podem estar envolvidas na carcinogênese mamaria. Relato de caso: Paciente do sexo feminino, 45 anos, branca, casada, residente do Estado do Rio de Janeiro com carcinoma ductal in situ grau 2, multifocal. Lesão positiva para os receptores hormonais de estrogênio e progesterona, com ausência de mutação somática e com presença dos variantes 213A→G e 13494G→A no éxon 6 e intron 6 do gene TP53. Conclusão: Embora tenham sido considerados individualmente neutros, não existem estudos que tenham avaliado o efeito sinérgico dos variantes 213A→G e 13494G→A. INCA2013-09-30info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionRelato de Casoapplication/pdfhttps://rbc.inca.gov.br/index.php/revista/article/view/51310.32635/2176-9745.RBC.2013v59n3.513Revista Brasileira de Cancerologia; Vol. 59 No. 3 (2013): July/Aug./Sept.; 453-457Revista Brasileira de Cancerologia; Vol. 59 Núm. 3 (2013): jul./agosto/sept.; 453-457Revista Brasileira de Cancerologia; v. 59 n. 3 (2013): jul./ago./set. ; 453-4572176-9745reponame: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/513/308Delmonico, Lucas Menezes, Lívia Franco Rosa, Marco Felipe Marques de Oliveira Mattar, Najla Barbosa Esteves, Eliane Rabello Areias, Vivian de Azevedo, Carolina Maria Alves , Gilda info:eu-repo/semantics/openAccess2021-11-29T20:11:10Zoai:rbc.inca.gov.br:article/513Revistahttps://rbc.inca.gov.br/index.php/revistaPUBhttps://rbc.inca.gov.br/index.php/revista/oairbc@inca.gov.br0034-71162176-9745opendoar:2021-11-29T20:11:10Revista Brasileira de Cancerologia (Online) - Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA)false |
| dc.title.none.fl_str_mv |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report La detección de Polimorfismos 213A→G y 13494G→A en el Gen TP53 en Carcinoma Ductal in Situ de Mama: Reporte de Caso Detecção dos Polimorfismos 213A→G e 13494G→A no Gene TP53 em Carcinoma Ductal in situ de Mama: Relato de Caso |
| title |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| spellingShingle |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report Delmonico, Lucas Humanos Feminino Neoplasias da Mama-patologia Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor Humans Female Breast Neoplasms-patology Genes p53 Polymorphism, Genetic Tumor Markers, Biological Humanos Femenino Neoplasias de la Mama-patología Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor |
| title_short |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| title_full |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| title_fullStr |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| title_full_unstemmed |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| title_sort |
Detection of Polymorphisms 213A→G and 13494G→A in the TP53 Gene in Breast in Situ Ductal Carcinoma: Case Report |
| author |
Delmonico, Lucas |
| author_facet |
Delmonico, Lucas Menezes, Lívia Franco Rosa, Marco Felipe Marques de Oliveira Mattar, Najla Barbosa Esteves, Eliane Rabello Areias, Vivian de Azevedo, Carolina Maria Alves , Gilda |
| author_role |
author |
| author2 |
Menezes, Lívia Franco Rosa, Marco Felipe Marques de Oliveira Mattar, Najla Barbosa Esteves, Eliane Rabello Areias, Vivian de Azevedo, Carolina Maria Alves , Gilda |
| author2_role |
author author author author author author author |
| dc.contributor.author.fl_str_mv |
Delmonico, Lucas Menezes, Lívia Franco Rosa, Marco Felipe Marques de Oliveira Mattar, Najla Barbosa Esteves, Eliane Rabello Areias, Vivian de Azevedo, Carolina Maria Alves , Gilda |
| dc.subject.por.fl_str_mv |
Humanos Feminino Neoplasias da Mama-patologia Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor Humans Female Breast Neoplasms-patology Genes p53 Polymorphism, Genetic Tumor Markers, Biological Humanos Femenino Neoplasias de la Mama-patología Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor |
| topic |
Humanos Feminino Neoplasias da Mama-patologia Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor Humans Female Breast Neoplasms-patology Genes p53 Polymorphism, Genetic Tumor Markers, Biological Humanos Femenino Neoplasias de la Mama-patología Genes p53 Polimorfismo Genético Marcadores Biológicos de Tumor |
| description |
Introduction: The characterization of molecular alterations in breast lesions suspicious for malignancy is not well defined. It is known that early detection of breast cancer greatly increases the chances of cure. Thus, it is required the survey for tumor markers may help establish an early diagnosis and confidently predict whether these lesions are benign or malignant. In the process of carcinogenesis, there are several changes in gene expression, which involves several key genes that control the cell cycle. Among the genes, TP53 has been widely studied for its mutations and variations, which may be involved in breast carcinogenesis. Case report: A female patient, aged 45, white, married, resident of the state of Rio de Janeiro with grade 2, multifocal Carcinoma Ductal in situ. Positive injury in estrogen and progesterone hormone receptors, with no somatic mutation and presence of variants 213A→G and 13494G→A in exon 6 and intron 6 of TP53. Conclusion: Although considered individually neutral, the synergistic effect of 213A→G and 13494G→A variants is still unknown. |
| publishDate |
2013 |
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2013-09-30 |
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info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Relato de Caso |
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https://rbc.inca.gov.br/index.php/revista/article/view/513 10.32635/2176-9745.RBC.2013v59n3.513 |
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https://rbc.inca.gov.br/index.php/revista/article/view/513 |
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Revista Brasileira de Cancerologia; Vol. 59 No. 3 (2013): July/Aug./Sept.; 453-457 Revista Brasileira de Cancerologia; Vol. 59 Núm. 3 (2013): jul./agosto/sept.; 453-457 Revista Brasileira de Cancerologia; v. 59 n. 3 (2013): jul./ago./set. ; 453-457 2176-9745 reponame:Revista Brasileira de Cancerologia (Online) instname:Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) instacron:INCA |
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