Association of ESR1 Mutations and Visceral Metastasis in Patients with Estrogen Receptor-Positive Advanced Breast Cancer from Brazil

Autor:	Carlos H. Barrios, Guilherme Portela Coelho, Tomás Reinert, Márcia Silveira Graudenz, José Bines, Edinéia Zimermann, Jovana Mandelli, Facundo Zaffaroni
Rok vydání:	2019
Předmět:	0301 basic medicine Oncology medicine.medical_specialty Article Subject medicine.drug_class Estrogen receptor medicine.disease_cause lcsh:RC254-282 Metastasis 03 medical and health sciences 0302 clinical medicine Breast cancer Vísceras Internal medicine medicine Prevalência Mutação Metástase neoplásica Mutation business.industry Brasil Cancer Neoplasias da mama lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens medicine.disease Biomarcadores 030104 developmental biology Real-time polymerase chain reaction Estrogen 030220 oncology & carcinogenesis business Estrogen receptor alpha
Zdroj:	Journal of Oncology, Vol 2019 (2019) Repositório Institucional da UFRGS Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS
ISSN:	1687-8469 1687-8450
Popis:	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. Therefore, 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. The presence of ESR1m was evaluated in formalin-fixed paraffin-embedded (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. The 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dfe6982c4cfd00e15c886eec1131d10 https://doi.org/10.1155/2019/1947215 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.