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BMC Cancer
Published in: BMC Cancer 1/2020

01-12-2020 | Breast Cancer | Research article

miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil

Authors: Danielle Pessôa-Pereira, Adriane Feijó Evangelista, Rhafaela Lima Causin, René Aloisio da Costa Vieira, Lucas Faria Abrahão-Machado, Iara Viana Vidigal Santana, Vinicius Duval da Silva, Karen Cristina Borba de Souza, Renato José de Oliveira-Silva, Gabriela Carvalho Fernandes, Rui Manuel Reis, Edenir Inêz Palmero, Márcia Maria Chiquitelli Marques

Published in: BMC Cancer | Issue 1/2020

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Abstract

Background

MicroRNAs (miRNAs) are small non-coding RNAs involved in post-transcriptional gene expression regulation and have been described as key regulators of carcinogenesis. Aberrant miRNA expression has been frequently reported in sporadic breast cancers, but few studies have focused on profiling hereditary breast cancers. In this study, we aimed to identify specific miRNA signatures in hereditary breast tumors and to compare with sporadic breast cancer and normal breast tissues.

Methods

Global miRNA expression profiling using NanoString technology was performed on 43 hereditary breast tumors (15 BRCA1, 14 BRCA2, and 14 BRCAX), 23 sporadic breast tumors and 8 normal breast tissues. These normal breast tissues derived from BRCA1- and BRCA2- mutation carriers (n = 5) and non-mutation carriers (n = 3). Subsequently, we performed receiver operating characteristic (ROC) curve analyses to evaluate the diagnostic performance of differentially expressed miRNAs. Putative target genes of each miRNAs considered as potential biomarkers were identified using miRDIP platform and used for pathway enrichment analysis.

Results

miRNA expression analyses identified several profiles that were specific to hereditary breast cancers. A total of 25 miRNAs were found to be differentially expressed (fold change: > 2.0 and p < 0.05) and considered as potential biomarkers (area under the curve > 0.75) in hereditary breast tumors compared to normal breast tissues, with an expressive upregulation among BRCAX cases. Furthermore, bioinformatic analysis revealed that these miRNAs shared target genes involved in ErbB, FoxO, and PI3K-Akt signaling pathways.

Conclusions

Our results showed that miRNA expression profiling can differentiate hereditary from sporadic breast tumors and normal breast tissues. These miRNAs were remarkably deregulated in BRCAX hereditary breast cancers. Therefore, miRNA signatures can be used as potential novel diagnostic biomarkers for the prediction of BRCA1/2- germline mutations and may be useful for future clinical management.
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Metadata
Title
miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil
Authors
Danielle Pessôa-Pereira
Adriane Feijó Evangelista
Rhafaela Lima Causin
René Aloisio da Costa Vieira
Lucas Faria Abrahão-Machado
Iara Viana Vidigal Santana
Vinicius Duval da Silva
Karen Cristina Borba de Souza
Renato José de Oliveira-Silva
Gabriela Carvalho Fernandes
Rui Manuel Reis
Edenir Inêz Palmero
Márcia Maria Chiquitelli Marques
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2020
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-020-6640-y

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