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au:Ribeiro, Enilze Maria de Souza Fonseca

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Biomarker potential of the LEF1/TCF family members in breast cancer: Bioinformatic investigation on expression and clinical significance LEF1TCF LEFTCF LEF1 TCF LEF cancer
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Lima, Beatriz Miotto

; Azevedo, Alexandre Luiz Korte de

; Giner, Igor Samesima

; Gomig, Talita Helen Bombardelli

; Ribeiro, Enilze Maria de Souza Fonseca

; Cavalli, Iglenir João

Genetics and Molecular Biology

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2023, Volume 46 N. 4 elocation e20220346

Abstract: En | Text: En | PDF: En

Abstract The LEF1/TCF transcription factor family is related to the development of diverse tissue types, including the mammary tissue, and dysregulation of its expression and function has been described to favor breast tumorigenesis. However, the clinical and biological relevance of this gene family in breast cancer is still poorly understood. Here, we used bioinformatics approaches aiming to reduce this gap. We investigated its expression patterns in molecular and immune breast cancer subtypes; its correlation with immune cell infiltration, and its prognostic values in predicting outcomes. Also, through regulons construction, we determined the genes whose expression is influenced by these transcription factors, and the pathways in which they are involved. We found that LEF1 and TCF3 are over-expressed in breast tumors regarding non-tumor samples, while TCF4 and TCF7 are down-expressed, with the gene’s methylation status being associated with its expression dysregulation. All four transcription factors presented significance at the diagnostic and prognostic levels. LEF1, TCF4, and TCF7 presented a significant correlation with immune cell infiltration, being associated with the immune subtypes of less favorable outcomes. Altogether, this research contributes to a more accurate understanding of the expression and clinical and biomarker significance of the LEF1/TCF transcription factors in breast cancer. LEF1TCF LEFTCF TCF LEF types tumorigenesis However understood Here gap infiltration outcomes Also construction involved overexpressed over expressed nontumor non tumor samples downexpressed, downexpressed down expressed, down-expressed s levels Altogether

https://doi.org/10.1590/1678-4685-gmb-2022-0346

So alike yet so different. Differential expression of the long non-coding RNAs NORAD and HCG11 in breast cancer subtypes
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Mathias, Carolina

; Pedroso, Gabrielle Araújo

; Pabst, Fernanda Rezende

; Lima, Rubens Silveira de

; Kuroda, Flavia

; Cavalli, Iglenir João

; Oliveira, Jaqueline Carvalho de

; Ribeiro, Enilze Maria de Souza Fonseca

; Gradia, Daniela Fiori

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20200153

Abstract: En | Text: En | PDF: En

Abstract Breast cancer (BC) is a heterogeneous disease, and it is the leading cause of death among women. NORAD and HCG11 are highly similar lncRNAs that present binding sites for PUMILIO proteins. PUMILIO acts on hundreds of mRNA targets, contributing to the modulation of gene expression. We analyzed the expression levels of NORAD and HCG11 in the BC subtypes luminal A (LA) and basal-like (BL), and the regulatory networks associated with these lncRNAs. In the analysis of TCGA cohort (n=329) and Brazilian BC samples (n=44), NORAD was up-regulated in LA while HCG11 was up-regulated in BL subtype. An increased expression of NORAD is associated with reduced disease-free survival in basal-like patients (p = 0.002), which suggests that its prognostic value could be different in specific subtypes. The biological pathways observed for the HCG11 network are linked to the epithelial-to-mesenchymal transition; while NORAD associated pathways appear to be related to luminal epithelial cell transformation. NORAD and HCG11 regulons respectively present 36% and 21.5% of PUMILIO targets, which suggests that these lncRNAs act as a decoy for PUMILIO. These lncRNAs seem to work as players in the differentiation process that drives breast cells to acquire distinct phenotypes related to a specific BC subtype.

https://doi.org/10.1590/1678-4685-gmb-2020-0153 414 downloads

Integrated analysis of label-free quantitative proteomics and bioinformatics reveal insights into signaling pathways in male breast cancer
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Gomig, Talita Helen Bombardelli

; Gontarski, Amanda Moletta

; Cavalli, Iglenir João

; Souza, Ricardo Lehtonen Rodrigues de

; Lucena, Aline Castro Rodrigues

; Batista, Michel

; Machado, Kelly Cavalcanti

; Marchini, Fabricio Klerynton

; Marchi, Fabio Albuquerque

; Lima, Rubens Silveira

; Urban, Cícero de Andrade

; Marchi, Rafael Diogo

; Cavalli, Luciane Regina

; Ribeiro, Enilze Maria de Souza Fonseca

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20190410

Abstract: En | Text: En | PDF: En

Abstract Male breast cancer (MBC) is a rare malignancy that accounts for about 1.8% of all breast cancer cases. In contrast to the high number of the “omics” studies in breast cancer in women, only recently molecular approaches have been performed in MBC research. High-throughput proteomics based methodologies are promisor strategies to characterize the MBC proteomic signatures and their association with clinico-pathological parameters. In this study, the label-free quantification-mass spectrometry and bioinformatics approaches were applied to analyze the proteomic profiling of a MBC case using the primary breast tumor and the corresponding axillary metastatic lymph nodes and adjacent non-tumor breast tissues. The differentially expressed proteins were identified in the signaling pathways of granzyme B, sirtuins, eIF2, actin cytoskeleton, eNOS, acute phase response and calcium and were connected to the upstream regulators MYC, PI3K SMARCA4 and cancer-related chemical drugs. An additional proteomic comparative analysis was performed with a primary breast tumor of a female patient and revealed an interesting set of proteins, which were mainly involved in cancer biology. Together, our data provide a relevant data source for the MBC research that can help the therapeutic strategies for its management.

https://doi.org/10.1590/1678-4685-gmb-2019-0410 790 downloads

COVID-19: The question of genetic diversity and therapeutic intervention approaches
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Figueiredo, David Livingstone Alves

; Ximenez, João Paulo Bianchi

; Seiva, Fábio Rodrigues Ferreira

; Panis, Carolina

; Bezerra, Rafael dos Santos

; Ferrasa, Adriano

; Cecchini, Alessandra Lourenço

; Medeiros, Alexandra Ivo de

; Almeida, Ana Marisa Fusco

; Ramão, Anelisa

; Boldt, Angelica Beate Winter

; Moya, Carla Fredrichsen

; Chin, Chung Man

; Paula, Daniel de

; Rech, Daniel

; Gradia, Daniela Fiori

; Malheiros, Danielle

; Venturini, Danielle

; Tavares, Eliandro Reis

; Carraro, Emerson

; Ribeiro, Enilze Maria de Souza Fonseca

; Pereira, Evani Marques

; Tuon, Felipe Francisco

; Follador, Franciele Aní Caovilla

; Fernandes, Glaura Scantamburlo Alves

; Volpato, Hélito

; Cólus, Ilce Mara de Syllos

; Oliveira, Jaqueline Carvalho de

; Rodrigues, Jean Henrique da Silva

; Santos, Jean Leandro dos

; Visentainer, Jeane Eliete Laguila

; Brandi, Juliana Cristina

; Serpeloni, Juliana Mara

; Bonini, Juliana Sartori

; Oliveira, Karen Brajão de

; Fiorentin, Karine

; Lucio, Léia Carolina

; Faccin-Galhardi, Ligia Carla

; Ferreto, Lirane Elize Defante

; Lioni, Lucy Megumi Yamauchi

; Consolaro, Marcia Edilaine Lopes

; Vicari, Marcelo Ricardo

; Arbex, Marcos Abdo

; Pileggi, Marcos

; Watanabe, Maria Angelica Ehara

; Costa, Maria Antônia Ramos

; Giannini, Maria José S. Mendes

; Amarante, Marla Karine

; Khalil, Najeh Maissar

; Lima Neto, Quirino Alves de

; Herai, Roberto H.

; Guembarovski, Roberta Losi

; Shinsato, Rogério N.

; Mainardes, Rubiana Mara

; Giuliatti, Silvana

; Yamada-Ogatta, Sueli Fumie

; Gerber, Viviane Knuppel de Quadros

; Pavanelli, Wander Rogério

; Silva, Weber Claudio da

; Petzl-Erler, Maria Luiza

; Valente, Valeria

; Soares, Christiane Pienna

; Cavalli, Luciane Regina

; Silva Jr, Wilson Araujo

Genetics and Molecular Biology

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2021, Volume 44 N. 1 elocation e20200452

Abstract: En | Text: En | PDF: En

Abstract Coronavirus disease 2019 (COVID-19), caused by the Severe Acute Respiratory Syndrome Coronavirus type 2 (SARS-CoV-2), is the largest pandemic in modern history with very high infection rates and considerable mortality. The disease, which emerged in China’s Wuhan province, had its first reported case on December 29, 2019, and spread rapidly worldwide. On March 11, 2020, the World Health Organization (WHO) declared the COVID-19 outbreak a pandemic and global health emergency. Since the outbreak, efforts to develop COVID-19 vaccines, engineer new drugs, and evaluate existing ones for drug repurposing have been intensively undertaken to find ways to control this pandemic. COVID-19 therapeutic strategies aim to impair molecular pathways involved in the virus entrance and replication or interfere in the patients’ overreaction and immunopathology. Moreover, nanotechnology could be an approach to boost the activity of new drugs. Several COVID-19 vaccine candidates have received emergency-use or full authorization in one or more countries, and others are being developed and tested. This review assesses the different strategies currently proposed to control COVID-19 and the issues or limitations imposed on some approaches by the human and viral genetic variability.

https://doi.org/10.1590/1678-4685-gmb-2020-0452

Association of FOSL1 copy number alteration and triple negative breast tumors
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Serino, Leandro Tamião Rodrigues

; Jucoski, Tayana Schultz

; Morais, Stephanie Bath de

; Fernandes, Cíntia Callegari Coêlho

; Lima, Rubens Silveira de

; Urban, Cícero Andrade

; Cavalli, Luciane Regina

; Cavalli, Iglenir João

; Ribeiro, Enilze Maria de Souza Fonseca

Genetics and Molecular Biology

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mar 2019, Volume 42 N. 1 Pages 26 - 31

Abstract: En | Text: En | PDF: En

Abstract Copy number alterations (CNAs) are a frequent feature in human breast cancer, and one of the hallmarks of genomic instability. The FOSL1, GSTP1 and CCND1 genes are located at 11q13, a cytoband commonly affected by CNA in breast cancer, with relevant function in progression and invasion. Our main goal was to analyze CNAs of these genes and determine their association with breast cancer subtypes. Seventy-three cases of invasive breast tumors [52 Luminal, 7 HER2+ and 14 triple negative (TNBC) subtypes] were analyzed by TaqMan assays. CNAs were observed for all genes, with gains more frequently observed. Gains of the FOSL1 gene were observed in 71% of the cases. This gene was the only one with a statistically significant difference (p<0.001) among tumor subtypes, with increased copy number in TNBC compared to luminal and HER2+. No significant association of CNA and clinical and histopathological parameters from the patients was observed. Additional studies in larger breast cancer patient cohorts based on more refined molecular subtypes are necessary to confirm the observed association of FOSL1 gain with aggressive breast tumors phenotypes.

https://doi.org/10.1590/1678-4685-gmb-2017-0267 1055 downloads

A genetic variant in microRNA-146a is associated with sporadic breast cancer in a Southern Brazilian Population
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Brincas, Heloisa Magagnin

; Augusto, Danillo G.

; Mathias, Carolina

; Cavalli, Iglenir João

; Lima, Rubens Silveira de

; Kuroda, Flávia

; Urban, Cícero de Andrade

; Gradia, Daniela Fiori

; de Oliveira, Jaqueline

; de Almeida, Rodrigo Coutinho

; Ribeiro, Enilze Maria de Souza Fonseca

Genetics and Molecular Biology

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2019, Volume 42 N. 4 elocation e20190278

Abstract: En | Text: En | PDF: En

Abstract MicroRNAs (miRNAs) play an essential role in gene expression and affect the development of tumours, including breast cancer (BC). Polymorphisms in miRNA genes can affect the interaction of miRNAs with their target messenger RNA by interfering, creating or disrupting target sites. The single nucleotide polymorphism (SNP) rs2910164, located in the seed region of miR146a, was shown to be associated with BC among different populations. In the present study, we investigated whether rs2910164 is associated with BC in 326 patients and 411 controls from a Brazilian population of predominantly European ancestry. The presence of the allele rs2910164*C was associated with an increased risk of BC (OR=1.4, 95% CI=1.03-1.85, p = 0.03). We also analysed publicly available RNA-seq data to evaluate if miR146a is differentially expressed in different subtypes of BC. Genotyping was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP). By leveraging public data from TCGA database, we analysed 461 patients and found that miR146a is significantly more expressed in BC than in non-tumor tissue (1.47 fold, p = 0.02) and is expressed to a greater degree in aggressive BC subtypes.

https://doi.org/10.1590/1678-4685-gmb-2019-0278 1052 downloads

Oral carcinoma epidemiology in Paraná State, Southern Brazil
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Losi-Guembarovski, Roberta

; Menezes, Rodrigo Paes de

; Poliseli, Fernando

; Chaves, Vivian Nappi

; Kuasne, Hellen

; Leichsenring, Andrei

; Maciel, Marcos Euzébio

; Guembarovski, Alda Losi

; Oliveira, Benedito W.

; Ramos, Gyl

; Mizuno, Lauro Toyshi

; Cavalli, Iglenir João

; Ribeiro, Enilze Maria de Souza Fonseca

; Cólus, Ilce Mara de Syllos

Cadernos de Saúde Pública

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feb 2009, Volume 25 N. 2 Pages 393 - 400

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

O carcinoma bucal é o sexto tipo mais comum de câncer no mundo e o sétimo no Brasil, onde ocorre a maior incidência da América Latina. A sobrevida média de aproximadamente cinco anos permanece como uma das menores entre os principais cânceres, justificando estudos que auxiliem no delineamento de estratégias de prevenção. Este estudo objetivou avaliar em uma amostra de 91 pacientes portadores de carcinomas bucais características epidemiológicas; fatores de risco, clínicos e histopatológicos. A média de idade foi de 58,62 ± 10,46 anos e a razão sexual de 6,6:1,0 (79 homens e 12 mulheres). A etnia euro-descendente foi predominante com 79 (86,8%) pacientes. Oitenta e cinco (93,4%) indivíduos eram tabagistas e 70 (76,9%) etilistas. As localizações anatômicas prevalentes foram: 27 tumores (29,7%) de língua; 18 (19,8%) de assoalho; 11(12,1%) de orofaringe e 11 (12,1%) de mucosa. Cinqüenta e sete (62,6%) pacientes apresentaram os linfonodos comprometidos e três apresentaram (3,3%) metástases à distância. A maioria dos pacientes (43,2%) recebeu tratamento cirúrgico e radioterápico. Com exceção da proporção sexual, nossos dados concordam com os freqüentemente descritos para portadores de carcinomas bucais.

Oral carcinoma is the sixth most frequent type of cancer in the world and the seventh most common in Brazil (the country with the highest incidence in Latin America). Mean five-year survival remains one of the lowest among the main cancers, thus justifying studies that contribute to the development of preventive strategies. The aim of this study was to compare the epidemiological, clinical, and histological characteristics of 91 patients with oral carcinoma. Mean age was 58.62 ± 10.46 years, and male-to-female ratio was 6.6:1.0 (79 men and 12 women). European descendants predominated with 79 patients (86.8%). Eighty-five individuals (93.4%) smoked and 70 (76.9%) consumed alcohol regularly. Anatomical distribution of tumors was: 27 (29.7%) tongue; 18 (19.8%) floor of mouth; 11 (12.1%) oropharynx; and 11 (12.1%) oral mucosa. Fifty-seven patients (62.6%) presented lymph node involvement and three (3.3%) had distant metastases. Surgery and radiotherapy were used in 43.2% of patients. With the exception of the male/female ratio (which was higher), our data are consistent with previous studies on oral carcinoma patients.

1817 downloads Cited 9 times in SciELO

Oral carcinoma epidemiology in Paraná State, Southern Brazil
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Losi-Guembarovski, Roberta

; Menezes, Rodrigo Paes de

; Poliseli, Fernando

; Chaves, Vivian Nappi

; Kuasne, Hellen

; Leichsenring, Andrei

; Maciel, Marcos Euzébio

; Guembarovski, Alda Losi

; Oliveira, Benedito W.

; Ramos, Gyl

; Mizuno, Lauro Toyshi

; Cavalli, Iglenir João

; Ribeiro, Enilze Maria de Souza Fonseca

; Cólus, Ilce Mara de Syllos

Cadernos de Saúde Pública

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feb 2009, Volume 25 N. 2 Pages 393 - 400

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

3375 downloads Cited 9 times in SciELO

Population analysis of xenobiotic metabolizing genes in South Brazilian Euro and Afro-descendants
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Maciel, Marcos Euzébio

; Oliveira, Fausto Koga

; Propst, Gustavo Bonfim

; Bicalho, Maria da Graça

; Cavalli, Iglenir João

; Ribeiro, Enilze Maria de Souza Fonseca

Genetics and Molecular Biology

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2009, Volume 32 N. 4 Pages 723 - 728

Abstract: En | Text: En | PDF: En

Individual variability in xenobiotic metabolism has been associated with susceptibility to developing complex diseases. Genes involved in xenobiotic metabolism have been evaluated in association studies; the difficulty of obtaining accurate gene frequencies in mixed populations makes interpretation of the results difficult. We sought to estimate population parameters for the cytochrome P450 and glutathione S-transferase gene families, thus contributing to studies using these genes as markers. We describe the frequencies of six genes (CYP1A1, CYP2D6, CYP2E1, GSTM1, GSTT1, and GSTP1) and estimate population parameters in 115 Euro-descendants and 196 Afro-descendants from Curitiba, South of Brazil. PCR-based methods were used for genotyping, and statistical analysis were performed by AMOVA with ARLEQUIN software. The mutant allele frequencies in the Afro-descendants and Euro-descendants, respectively, were: CYP1A1*2A = 30.1% and 15.2%; CYP2D6*4 = 14.5% and 21.5%; CYP2E1*5B = 7.9% and 5%; GSTP1*B = 37.8% and 28.3%. The null genotype frequencies were: GSTM1*0 = 36.8% and 46.1%; GSTT1*0 = 24.2% and 17.4%.

2256 downloads Cited 2 times in SciELO

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Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos
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Sato, Mário Teruo

; Marzagão, Rodrigo

; Graff, Christine

; Arana, Jaime

; Moreira, Ana Tereza Ramos

; Pagnan, Nina Amália Brancia

; Ribeiro, Enilze Maria de Souza Fonseca

; Moreira Júnior, Carlos Augusto

Arquivos Brasileiros de Oftalmologia

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mar 2002, Volume 65 N. 2 Pages 249 - 256

Abstract: Pt En | Text: Pt En | PDF: Pt | PDF: En

Objetivos: Descrever os achados oftalmológicos, dermatológicos e de microscopia óptica (MO) e microscopia eletrônica de varredura (MEV) de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos (SCAF). Métodos: Uma família de sete pacientes, quatro deles afetados, foi examinada. Os pacientes foram submetidos ao exame oftalmológico completo, teste de cores (Ishihara e Farnsworth D-15), ecografia, angiografia, exames laboratoriais e dermatológico, teste do suor, microscopia óptica e microscopia eletrônica de varredura dos fios de cabelo. Resultados: Em duas irmãs afetadas encontramos no fundo de olho dispersões pigmentares em pólo posterior da retina, com estafiloma da mácula. Em dois irmãos foram encontradas as mesmas dispersões pigmentares em pólo posterior, com maior pigmentação e coloração amarelada em área macular e sem estafiloma. A avaliação na microscopia óptica e microscopia eletrônica de varredura dos indivíduos afetados confirmou a SCAF. Em uma mulher e em um homem não afetados todos os exames foram normais, exceto que na MO e MEV encontramos algumas semelhanças com os indivíduos afetados. Quanto ao modo de herança, o heredograma é compatível com herança autossômica recessiva com expressão parcial no heterozigoto. Conclusões: Há somente um relato na literatura internacional da associação de SCAF e coloboma ocular. Neste trabalho descrevemos os achados de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos, distrofia cujos achados fundoscópicos são diferentes entre homens e mulheres. Por se tratar do primeiro relato na literatura, os achados descritos sugerem fortemente que esta associação pode ser parte de uma nova entidade nosológica.

Purpose: To describe the ophthalmological, dermatological, light microscopy (LM) and scanning electron microscopy (SEM) findings of a new macular dystrophy associated with the loose anagen hair syndrome (LAHS). Methods: A family of seven patients, four of them affected, was examined. The patients underwent a complete ophthalmological examination, color test (Ishihara and Farnsworth D-15), ecography, angiography, laboratory and dermatological tests, sweat test, light microscopy and scanning electron microscopy of the hair. Results: In two affected sisters we found on eye fundoscopy pigmentary dispersions in the posterior pole of the retina, with macular staphyloma. In two brothers, the same pigmentary dispersions in the posterior pole was found, with more pigmentation and a yellow coloring in the macular area and without staphyloma. The light microscopy and scanning electron microscopy evaluation of the affected individuals confirmed loose anagen hair syndrome. In a not affected woman and man all examinations were normal, except the light microscopy and scanning electron microscopy that showed some similarities with the affected individuals. As for the way of inheritance, the pedigree is compatible with autosomal recessive inheritance with partial expression of the heterozygote. Conclusions: There is only one report in the international literature of loose anagen hair syndrome association with ocular coloboma. In this study we describe the findings of a new macular dystrophy associated with the loose anagen hair syndrome, a dystrophy whose fundoscopy findings are different between men and women. Since it is the first report in the literature, the described findings strongly suggest that this association can be part of a new nosological entity.

5230 downloads Cited 3 times in SciELO

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