Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil
dc.contributor.author | Reinert, Tomás | pt_BR |
dc.contributor.author | Coelho, Guilherme Portela | pt_BR |
dc.contributor.author | Mandelli, Jovana | pt_BR |
dc.contributor.author | Zimermann, Edinéia | pt_BR |
dc.contributor.author | Zaffaroni, Facundo | pt_BR |
dc.contributor.author | Bines, José | pt_BR |
dc.contributor.author | Barrios, Carlos Henrique Escosteguy | pt_BR |
dc.contributor.author | Graudenz, Márcia Silveira | pt_BR |
dc.date.accessioned | 2020-12-11T04:11:31Z | pt_BR |
dc.date.issued | 2019 | pt_BR |
dc.identifier.issn | 1687-8450 | pt_BR |
dc.identifier.uri | http://hdl.handle.net/10183/216362 | pt_BR |
dc.description.abstract | 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. | en |
dc.format.mimetype | application/pdf | pt_BR |
dc.language.iso | eng | pt_BR |
dc.relation.ispartof | Journal of oncology. Cairo. Vol. 2019 (2019), Article ID 1947215, 5 p. | pt_BR |
dc.rights | Open Access | en |
dc.subject | Neoplasias da mama | pt_BR |
dc.subject | Metástase neoplásica | pt_BR |
dc.subject | Vísceras | pt_BR |
dc.subject | Biomarcadores | pt_BR |
dc.subject | Prevalência | pt_BR |
dc.subject | Mutação | pt_BR |
dc.subject | Brasil | pt_BR |
dc.title | Association of ESR1 mutations and visceral metastasis in patients with estrogen receptor-positive advanced breast cancer from Brazil | pt_BR |
dc.type | Artigo de periódico | pt_BR |
dc.identifier.nrb | 001119244 | pt_BR |
dc.type.origin | Estrangeiro | pt_BR |
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