Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil

Detalhes bibliográficos
Autor(a) principal: Reinert, Tomás
Data de Publicação: 2019
Outros Autores: Coelho, Guilherme Portela, Mandelli, Jovana, Zimermann, Edinéia, Zaffaroni, Facundo, Bines, José, Barrios, Carlos Henrique Escosteguy, Graudenz, Márcia Silveira
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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spelling 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.
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dc.date.issued.fl_str_mv 2019
dc.date.accessioned.fl_str_mv 2020-12-11T04:11:31Z
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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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