Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/216362 |
Resumo: | Mutations in the ESR1 gene (ESR1m) are important mechanisms of resistance to endocrine therapy in estrogen receptor-positive advanced breast cancer and have been recognized as a prognostic and predictive biomarker as well as a potential therapeutic target. However, the prevalence of ESR1m in real-world patients has not been adequately described. (erefore, we sought to evaluate the prevalence of ESR1m in metastatic samples from Brazilian patients with estrogen receptor-positive (ER+) advanced breast cancer previously treated with endocrine therapy. (e presence of ESR1m was evaluated in formalin-fixed paraffinembedded (FFPE) breast cancer tissue using real-time quantitative polymerase chain reaction (RT-qPCR). Mutations in codons 380, 537, and 538 of the ESR1 gene were analyzed. Out of 77 breast cancer samples, 11 (14.3%) showed mutations in the ESR1 gene. ESR1m were detected in a variety of organs, and the D538G substitution was the most common mutation. In visceral metastasis, ESR1m were detected in 25% (8/32) of the samples, whereas in nonvisceral metastasis, ESR1m were detected in 6.7% (3/45) of the samples. (e odds of a sample with visceral metastasis having an ESR1 mutation is 4.66 times the odds of a sample of nonvisceral metastasis having an ESR1 mutation (95% CI: 1.13–19.27; p value � 0.0333). Our study indicates that the prevalence of ESR1m in samples from Brazilian patients with metastatic ER+ breast cancer is similar to that described in patients included in clinical trials. We observed an association of ESR1m with visceral metastasis. |
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Reinert, TomásCoelho, Guilherme PortelaMandelli, JovanaZimermann, EdinéiaZaffaroni, FacundoBines, JoséBarrios, Carlos Henrique EscosteguyGraudenz, Márcia Silveira2020-12-11T04:11:31Z20191687-8450http://hdl.handle.net/10183/216362001119244Mutations in the ESR1 gene (ESR1m) are important mechanisms of resistance to endocrine therapy in estrogen receptor-positive advanced breast cancer and have been recognized as a prognostic and predictive biomarker as well as a potential therapeutic target. However, the prevalence of ESR1m in real-world patients has not been adequately described. (erefore, we sought to evaluate the prevalence of ESR1m in metastatic samples from Brazilian patients with estrogen receptor-positive (ER+) advanced breast cancer previously treated with endocrine therapy. (e presence of ESR1m was evaluated in formalin-fixed paraffinembedded (FFPE) breast cancer tissue using real-time quantitative polymerase chain reaction (RT-qPCR). Mutations in codons 380, 537, and 538 of the ESR1 gene were analyzed. Out of 77 breast cancer samples, 11 (14.3%) showed mutations in the ESR1 gene. ESR1m were detected in a variety of organs, and the D538G substitution was the most common mutation. In visceral metastasis, ESR1m were detected in 25% (8/32) of the samples, whereas in nonvisceral metastasis, ESR1m were detected in 6.7% (3/45) of the samples. (e odds of a sample with visceral metastasis having an ESR1 mutation is 4.66 times the odds of a sample of nonvisceral metastasis having an ESR1 mutation (95% CI: 1.13–19.27; p value � 0.0333). Our study indicates that the prevalence of ESR1m in samples from Brazilian patients with metastatic ER+ breast cancer is similar to that described in patients included in clinical trials. We observed an association of ESR1m with visceral metastasis.application/pdfengJournal of oncology. Cairo. Vol. 2019 (2019), Article ID 1947215, 5 p.Neoplasias da mamaMetástase neoplásicaVíscerasBiomarcadoresPrevalênciaMutaçãoBrasilAssociation of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from BrazilEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSTEXT001119244.pdf.txt001119244.pdf.txtExtracted Texttext/plain28015http://www.lume.ufrgs.br/bitstream/10183/216362/2/001119244.pdf.txt9d23dddabdbb6cddecabef049ccce7b1MD52ORIGINAL001119244.pdfTexto completo (inglês)application/pdf1526349http://www.lume.ufrgs.br/bitstream/10183/216362/1/001119244.pdfba8e9cfe80b8ad558fe56df24ddc0903MD5110183/2163622020-12-12 05:19:41.510527oai:www.lume.ufrgs.br:10183/216362Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2020-12-12T07:19:41Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
title |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
spellingShingle |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil Reinert, Tomás Neoplasias da mama Metástase neoplásica Vísceras Biomarcadores Prevalência Mutação Brasil |
title_short |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
title_full |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
title_fullStr |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
title_full_unstemmed |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
title_sort |
Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil |
author |
Reinert, Tomás |
author_facet |
Reinert, Tomás Coelho, Guilherme Portela Mandelli, Jovana Zimermann, Edinéia Zaffaroni, Facundo Bines, José Barrios, Carlos Henrique Escosteguy Graudenz, Márcia Silveira |
author_role |
author |
author2 |
Coelho, Guilherme Portela Mandelli, Jovana Zimermann, Edinéia Zaffaroni, Facundo Bines, José Barrios, Carlos Henrique Escosteguy Graudenz, Márcia Silveira |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Reinert, Tomás Coelho, Guilherme Portela Mandelli, Jovana Zimermann, Edinéia Zaffaroni, Facundo Bines, José Barrios, Carlos Henrique Escosteguy Graudenz, Márcia Silveira |
dc.subject.por.fl_str_mv |
Neoplasias da mama Metástase neoplásica Vísceras Biomarcadores Prevalência Mutação Brasil |
topic |
Neoplasias da mama Metástase neoplásica Vísceras Biomarcadores Prevalência Mutação Brasil |
description |
Mutations in the ESR1 gene (ESR1m) are important mechanisms of resistance to endocrine therapy in estrogen receptor-positive advanced breast cancer and have been recognized as a prognostic and predictive biomarker as well as a potential therapeutic target. However, the prevalence of ESR1m in real-world patients has not been adequately described. (erefore, we sought to evaluate the prevalence of ESR1m in metastatic samples from Brazilian patients with estrogen receptor-positive (ER+) advanced breast cancer previously treated with endocrine therapy. (e presence of ESR1m was evaluated in formalin-fixed paraffinembedded (FFPE) breast cancer tissue using real-time quantitative polymerase chain reaction (RT-qPCR). Mutations in codons 380, 537, and 538 of the ESR1 gene were analyzed. Out of 77 breast cancer samples, 11 (14.3%) showed mutations in the ESR1 gene. ESR1m were detected in a variety of organs, and the D538G substitution was the most common mutation. In visceral metastasis, ESR1m were detected in 25% (8/32) of the samples, whereas in nonvisceral metastasis, ESR1m were detected in 6.7% (3/45) of the samples. (e odds of a sample with visceral metastasis having an ESR1 mutation is 4.66 times the odds of a sample of nonvisceral metastasis having an ESR1 mutation (95% CI: 1.13–19.27; p value � 0.0333). Our study indicates that the prevalence of ESR1m in samples from Brazilian patients with metastatic ER+ breast cancer is similar to that described in patients included in clinical trials. We observed an association of ESR1m with visceral metastasis. |
publishDate |
2019 |
dc.date.issued.fl_str_mv |
2019 |
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2020-12-11T04:11:31Z |
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001119244 |
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dc.relation.ispartof.pt_BR.fl_str_mv |
Journal of oncology. Cairo. Vol. 2019 (2019), Article ID 1947215, 5 p. |
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