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miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil
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 profili...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036228/ https://www.ncbi.nlm.nih.gov/pubmed/32087690 http://dx.doi.org/10.1186/s12885-020-6640-y |
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author | Pessôa-Pereira, Danielle Evangelista, Adriane Feijó Causin, Rhafaela Lima da Costa Vieira, René Aloisio Abrahão-Machado, Lucas Faria Santana, Iara Viana Vidigal da Silva, Vinicius Duval de Souza, Karen Cristina Borba de Oliveira-Silva, Renato José Fernandes, Gabriela Carvalho Reis, Rui Manuel Palmero, Edenir Inêz Marques, Márcia Maria Chiquitelli |
author_facet | Pessôa-Pereira, Danielle Evangelista, Adriane Feijó Causin, Rhafaela Lima da Costa Vieira, René Aloisio Abrahão-Machado, Lucas Faria Santana, Iara Viana Vidigal da Silva, Vinicius Duval de Souza, Karen Cristina Borba de Oliveira-Silva, Renato José Fernandes, Gabriela Carvalho Reis, Rui Manuel Palmero, Edenir Inêz Marques, Márcia Maria Chiquitelli |
author_sort | Pessôa-Pereira, Danielle |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7036228 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-70362282020-03-02 miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil Pessôa-Pereira, Danielle Evangelista, Adriane Feijó Causin, Rhafaela Lima da Costa Vieira, René Aloisio Abrahão-Machado, Lucas Faria Santana, Iara Viana Vidigal da Silva, Vinicius Duval de Souza, Karen Cristina Borba de Oliveira-Silva, Renato José Fernandes, Gabriela Carvalho Reis, Rui Manuel Palmero, Edenir Inêz Marques, Márcia Maria Chiquitelli BMC Cancer Research Article 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. BioMed Central 2020-02-22 /pmc/articles/PMC7036228/ /pubmed/32087690 http://dx.doi.org/10.1186/s12885-020-6640-y Text en © The Author(s). 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Article Pessôa-Pereira, Danielle Evangelista, Adriane Feijó Causin, Rhafaela Lima da Costa Vieira, René Aloisio Abrahão-Machado, Lucas Faria Santana, Iara Viana Vidigal da Silva, Vinicius Duval de Souza, Karen Cristina Borba de Oliveira-Silva, Renato José Fernandes, Gabriela Carvalho Reis, Rui Manuel Palmero, Edenir Inêz Marques, Márcia Maria Chiquitelli miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title | miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title_full | miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title_fullStr | miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title_full_unstemmed | miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title_short | miRNA expression profiling of hereditary breast tumors from BRCA1- and BRCA2-germline mutation carriers in Brazil |
title_sort | mirna expression profiling of hereditary breast tumors from brca1- and brca2-germline mutation carriers in brazil |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036228/ https://www.ncbi.nlm.nih.gov/pubmed/32087690 http://dx.doi.org/10.1186/s12885-020-6640-y |
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