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1.
Braz. j. biol ; 84: e250575, 2024. tab, graf
Article in English | MEDLINE, LILACS, VETINDEX | ID: biblio-1350309

ABSTRACT

Abstract Cancer is a fatal malignancy and its increasing worldwide prevalence demands the discovery of more sensitive and reliable molecular biomarkers. To investigate the GINS1 expression level and its prognostic value in distinct human cancers using a series of multi-layered in silico approach may help to establish it as a potential shared diagnostic and prognostic biomarker of different cancer subtypes. The GINS1 mRNA, protein expression, and promoter methylation were analyzed using UALCAN and Human Protein Atlas (HPA), while mRNA expression was further validated via GENT2. The potential prognostic values of GINS1 were evaluated through KM plotter. Then, cBioPortal was utilized to examine the GINS1-related genetic mutations and copy number variations (CNVs), while pathway enrichment analysis was performed using DAVID. Moreover, a correlational analysis between GINS1 expression and CD8+ T immune cells and a the construction of gene-drug interaction network was performed using TIMER, CDT, and Cytoscape. The GINS1 was found down-regulated in a single subtypes of human cancer while commonly up-regulated in 23 different other subtypes. The up-regulation of GINS1 was significantly correlated with the poor overall survival (OS) of Liver Hepatocellular Carcinoma (LIHC), Lung Adenocarcinoma (LUAD), and Kidney renal clear cell carcinoma (KIRC). The GINS1 was also found up-regulated in LIHC, LUAD, and KIRC patients of different clinicopathological features. Pathways enrichment analysis revealed the involvement of GINS1 in two diverse pathways, while few interesting correlations were also documented between GINS1 expression and its promoter methylation level, CD8+ T immune cells level, and CNVs. Moreover, we also predicted few drugs that could be used in the treatment of LIHC, LUAD, and KIRC by regulating the GINS1 expression. The expression profiling of GINS1 in the current study has suggested it a novel shared diagnostic and prognostic biomarker of LIHC, LUAD, and KIRC.


Resumo O câncer é uma doença maligna fatal e sua crescente prevalência mundial exige a descoberta de biomarcadores moleculares mais sensíveis e confiáveis. Investigar o nível de expressão de GINS1 e seu valor prognóstico em cânceres humanos distintos, usando uma série de abordagens in silico em várias camadas, pode ajudar a estabelecê-lo como um potencial biomarcador de diagnóstico e prognóstico compartilhado de diferentes subtipos de câncer. O mRNA de GINS1, a expressão da proteína e a metilação do promotor foram analisados ​​usando UALCAN e Human Protein Atlas (HPA), enquanto a expressão de mRNA foi posteriormente validada via GENT2. Os valores prognósticos potenciais de GINS1 foram avaliados por meio do plotter KM. Em seguida, o cBioPortal foi utilizado para examinar as mutações genéticas relacionadas ao GINS1 e as variações do número de cópias (CNVs), enquanto a análise de enriquecimento da via foi realizada usando DAVID. Além disso, uma análise correlacional entre a expressão de GINS1 e células imunes T CD8 + e a construção de uma rede de interação gene-droga foi realizada usando TIMER, CDT e Cytoscape. O GINS1 foi encontrado regulado negativamente em um único subtipo de câncer humano, enquanto comumente regulado positivamente em 23 outros subtipos diferentes. A regulação positiva de GINS1 foi significativamente correlacionada com a sobrevida global pobre (OS) de Carcinoma Hepatocelular de Fígado (LIHC), Adenocarcinoma de Pulmão (LUAD) e Carcinoma de Células Claras Renais de Rim (KIRC). O GINS1 também foi encontrado regulado positivamente em pacientes LIHC, LUAD e KIRC de diferentes características clínico-patológicas. A análise de enriquecimento de vias revelou o envolvimento de GINS1 em duas vias diversas, enquanto poucas correlações interessantes também foram documentadas entre a expressão de GINS1 e seu nível de metilação do promotor, nível de células imunes T CD8 + e CNVs. Além disso, também previmos poucos medicamentos que poderiam ser usados ​​no tratamento de LIHC, LUAD e KIRC, regulando a expressão de GINS1. O perfil de expressão de GINS1 no estudo atual sugeriu que é um novo biomarcador de diagnóstico e prognóstico compartilhado de LIHC, LUAD e KIRC.


Subject(s)
Humans , Carcinoma, Renal Cell/genetics , Kidney Neoplasms/genetics , Liver Neoplasms , Prognosis , Biomarkers, Tumor/genetics , Gene Expression Regulation, Neoplastic , Up-Regulation , DNA-Binding Proteins , DNA Copy Number Variations
2.
Arq. gastroenterol ; 58(1): 55-60, Jan.-Mar. 2021. tab, graf
Article in English | LILACS | ID: biblio-1248983

ABSTRACT

ABSTRACT BACKGROUND: Colorectal cancer is the third most common neoplasm in the world. Methylation of tumor related genes in CpG islands can cause gene silencing and been involved in the development of cancer. The potential role of DKK2 as a biomarker for early diagnosis of colorectal cancer remains unclear. OBJECTIVE: The aim of the study was to evaluate the profile of methylation and RNAm expression of DKK2 as potential predictors of colorectal cancer diagnosis and prognosis. METHODS: Expression of mRNAs encoding DKK2 in 35 colorectal cancer tissues was quantified using real-time polymerase chain reaction analysis. The DNA methylation was studied by high resolution melting analysis. The general characteristics of the patients were collected. DKK2 methylation and expression were compared to clinical, pathological aspects and overall survival. RESULTS: Among the 35 patients studied, 18 were male, 10 were on right colon and 25 on left colon. Among the 20 patients with high hypermethylation, 15 of them had mRNA low expression of DKK2. There was no significant association between DKK2 promoter methylation and mRNA DKK2 expression and clinical or pathological features. DKK2 promoter methylation (P=0.154) and DKK2 RNA expression (P=0.345) did not show significant correlation with overall survival. CONCLUSION: DKK2 promoter methylation and DKK2 RNA status appear to be biomarkers of cancer diagnosis but not predictors of prognosis.


RESUMO CONTEXTO: O câncer colorretal é a terceira neoplasia mais comum no mundo. A metilação de alguns genes nas ilhas CpG podem causar silenciamento gênico e estar envolvida no desenvolvimento de câncer. O potencial papel de DKK2 como um biomarcador no diagnóstico precoce de CCR permanece incerto. OBJETIVO: O objetivo do estudo foi avaliar o perfil de metilação e expressão de RNAm do gene DKK2 para identificar preditores potenciais de diagnóstico e prognóstico de CCR. MÉTODOS: A expressão de mRNAs que codificam DKK2 em 35 tecidos de câncer colorretal foi quantificada por reação em cadeia da polimerase em tempo real e a metilação do DNA foi verificada por análise de alta resolução. As características gerais dos pacientes foram coletadas. A metilação e expressão de DKK2 foram comparadas aos aspectos clínicos, patológicos e à sobrevida global. RESULTADOS: Entre os 35 pacientes estudados, 18 eram do sexo masculino, 10 tumores eram do cólon ascendente ou transverso e 25 do descendente ou reto. Entre os 20 pacientes com hipermetilação, 12 deles apresentaram baixa expressão de RNAm do gene DKK2. Não houve associação significativa entre a metilação do promotor de DKK2 e a expressão de RNAm de DKK2 e características clínicas ou patológicas. A metilação do promotor de DKK2 e a expressão do RNA de DKK2 não mostraram correlação com sobrevida global dos pacientes com CCR. CONCLUSÃO: A metilação do gene promotor e a expressão do RNAm do gene DKK2 parecem ser biomarcadores de diagnóstico de câncer, mas não se mostraram úteis na avaliação prognóstica.


Subject(s)
Humans , Male , Female , Colorectal Neoplasms/genetics , DNA Methylation , Prognosis , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Promoter Regions, Genetic , CpG Islands , Intercellular Signaling Peptides and Proteins/genetics
3.
Braz. j. med. biol. res ; 54(11): e11069, 2021. tab, graf
Article in English | LILACS | ID: biblio-1339448

ABSTRACT

This study aimed to explore gene expression profiles that drive malignancy from low- to high-grade head and neck carcinomas (HNC), as well as to analyze their correlations with survival. Gene expressions and clinical data of HNC were downloaded from the Gene Expression Omnibus (GEO) repository. The significantly differential genes (SDGs) between low- and high-grade HNC were screened. Cox regressions were performed to identify prognostic SDGs of progression-free survival (PFS) and disease-specific survival (DSS). The genes were experimentally validated by RT-PCR in clinical tissue specimens. Thirty-five SDGs were identified in 47 low-grade and 30 high-grade HNC samples. Cox regression analyses showed that CXCL14, SLC44A1, and UBD were significantly associated with DSS, and PPP2R2C and SLC44A1 were associated with PFS. Patients were grouped into high-risk or low-risk groups for prognosis based on gene signatures. High-risk patients had significantly shorter DSS and PFS than low-risk patients (P=0.033 and P=0.010, respectively). Multivariate Cox regression showed HPV (P=0.033), lymph node status (P=0.032), and residual status (P<0.044) were independent risk factors for PFS. ROC curves showed the risk score had better efficacy to predict survival both for DSS and PFS (AUC=0.858 and AUC=0.901, respectively). The results showed CXCL14 and SLC44A1 were significantly overexpressed in the low-grade HNC tissues and the UBD were overexpressed in the high-grade HNC tissues. Our results suggested that SDGs had different expression profiles between the low-grade and high-grade HNC, and these genes may serve as prognostic biomarkers to predict survival.


Subject(s)
Humans , Biomarkers, Tumor/genetics , Head and Neck Neoplasms/genetics , Antigens, CD , Organic Cation Transport Proteins , Transcriptome
4.
Braz. j. med. biol. res ; 54(2): e10394, 2021. tab, graf
Article in English | LILACS | ID: biblio-1153512

ABSTRACT

MicroRNAs (miRNAs) have been indicated to be frequently dysregulated in various cancers and promising biomarkers for colon cancer. The present study aimed to assess the prognostic significance and biological function of miR-1273a in colon cancer. The expression levels of miR-1273a was estimated using quantitative real-time polymerase chain reaction. Kaplan-Meier survival curves and Cox regression analysis were used to evaluate the prognostic value of miR-1273a in patients of colon cancer. The effects of miR-1273a on cell proliferation, migration, and invasion were investigated by cell experiments. The expression of miR-1273a was downregulated in colon cancer tissues and tumor cell lines compared with the normal controls (all P<0.001). The aberrant expression of miR-1273a was associated with vascular invasion (P=0.005), differentiation (P=0.023), lymph node metastasis (P=0.021), and TNM stage (P=0.004). The patients with low miR-1273a expression had low overall survival compared with the patients with high miR-1273a expression (log-rank P=0.002). miR-1273a was detected to be an independent prognostic biomarker for patients. Furthermore, the results of cell experiments revealed that miR-1273a downregulation promoted, while miR-1273a upregulation suppressed the cell proliferation, migration, and invasion. In conclusion, all data indicated that a downregulated expression of miR-1273a predicted poor prognosis for colon cancer and enhanced tumor cell proliferation, migration, and invasion. Thus, we suggest that methods to promote miR-1273a expression may serve as novel therapeutic strategies in colon cancer.


Subject(s)
Humans , Male , Female , Middle Aged , Colonic Neoplasms/diagnosis , MicroRNAs/genetics , Biomarkers, Tumor/genetics , Cell Movement/genetics , Colonic Neoplasms/genetics , Cell Proliferation/genetics , Neoplasm Invasiveness
5.
Clinics ; 76: e2142, 2021. tab, graf
Article in English | LILACS | ID: biblio-1153983

ABSTRACT

OBJECTIVE: This study aimed to assess miRNA-195 expression in the tumor tissues from a cohort of Brazilian female breast cancer patients undergoing neoadjuvant chemotherapy (NAC) and evaluate its correlation with various clinicopathological markers. METHODS: Quantitative reverse transcription polymerase chain reaction (qRT-PCR) was used to evaluate the miRNA-195 expression in tumor tissues from a cohort of female breast cancer patients undergoing NAC. This expression was then correlated with the occurrence of several distinct breast cancer molecular subtypes and other clinicopathological variables. RESULTS: A total of 55 patients were included in this study, 28 (50.9%) of whom were treated using NAC. Tumor miRNA-195 expression was suppressed in breast cancer patients, regardless of their exposure to systemic treatments, histological grade, size, nodal status, and tumor-node-metastasis (TNM) staging. This was more pronounced in luminal and triple-negative patients, and patient's response to NAC was correlated with an increase in miRNA-195 expression. CONCLUSION: miRNA-195 is downregulated in the tumor tissues of Brazilian breast cancer patients regardless of NAC exposure; this reinforces its role as a tumor suppressor and a potential biomarker for chemotherapy response.


Subject(s)
Humans , Female , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Breast Neoplasms/drug therapy , MicroRNAs/genetics , Prognosis , Brazil , Antineoplastic Combined Chemotherapy Protocols , Biomarkers, Tumor/genetics , Neoadjuvant Therapy , Neoplasm Staging
6.
Braz. j. med. biol. res ; 54(7): e10388, 2021. tab
Article in English | LILACS | ID: biblio-1249319

ABSTRACT

Clinically relevant biomarkers are useful to determine cancer patients' prognosis and treatments. To discover new putative biomarkers, we performed in silico analysis of a 325-gene panel previously associated with breast epithelial cell biology and clinical outcomes. Sixteen public datasets of microarray samples representing 8 cancer types and a total of 3,663 patients' samples were used for the analyses. Feature selection was used to identify the best subsets of the 325 genes for each classification, and linear discriminant analysis was used to quantify the accuracy of the classifications. A subset of 102 of the 325 genes were found to be housekeeping (HK) genes, and the classifications were repeated using only the 102 HK subset. The 325-gene panel and 102 HK subset were able to distinguish colon, gastric, lung, ovarian, pancreatic, and prostate tumors and leukemia from normal adjacent tissue, and classify disease subtypes of breast and lung cancers and leukemia with 70% or higher accuracy. HK genes have been overlooked as potential biomarkers due to their relative stability. This study describes a set of HK genes as putative biomarkers applicable to multiple cancer types worth following in subsequent validation studies.


Subject(s)
Humans , Male , Breast Neoplasms/genetics , Gene Expression Profiling , Phenotype , Biomarkers, Tumor/genetics , Gene Expression Regulation, Neoplastic , Oligonucleotide Array Sequence Analysis , Genes, Essential
7.
Article in Chinese | WPRIM | ID: wpr-888367

ABSTRACT

OBJECTIVE@#To analyze the expression of microRNA-106a(miR-106a) in renal cell carcinoma (RCC) and its correlation with clinicopathological characteristics and prognosis of patients.@*METHODS@#Serum samples of 64 patients with newly diagnosed RCC were collected as the study group, and serum samples of 40 healthy individuals were used as the control group. Real-time fluorescence quantitative PCR was used to determine the expression level of miR-106a in each group. The correlation between miR-106a expression and clinicopathological characteristics of the patients was studied with single factor analysis and multiple Logistic regression model. Kaplan-Meier survival curve was used to analyze its correlation with the prognosis of patients.@*RESULTS@#Before surgery, compared with the control group (1.17± 0.58), RCC patients with high- (9.15± 0.96) and low-expression(3.45± 0.37) had increased expression of miR-106a. Postoperatively, the expression level of miR-106a in both groups of patients decreased to 1.53± 0.18 and 1.75± 0.21, respectively. The area under the curve (AUC) of the diagnostic value of serum miR-106a for RCC was 0.782 (95% CI: 0.661-0.902). With an optimal cutoff value of 0.531, the sensitivity was 78.10% and the specificity was 75.00%. Serum miR-106a level of RCC patients with TNM stage T3 or T4, clinical stage II or III, lymph node metastasis, and recurrence were significantly increased. The high expression of serum miR-106a in RCC patients has an independent relationship with the tumor TNM stage and lymph node metastasis. Of the 64 follow-up patients, 4 were lost and 30 had died. Among them, the median survival time of patients in the miR-106a high expression group was 30 months, which was significantly shorter than that of the low expression group (52 months).@*CONCLUSION@#The serum level of miR-106a is elevated in RCC patients, and may be used as a molecular marker for the diagnosis of RCC. High serum expression of miR-106a is an independent predictor for tumor TNM stage and lymph node metastasis, as well as an independent predictor for poor prognosis of RCC patients.


Subject(s)
Biomarkers, Tumor/genetics , Carcinoma, Renal Cell/genetics , Gene Expression Regulation, Neoplastic , Humans , Kidney Neoplasms/genetics , MicroRNAs/genetics , Neoplasm Recurrence, Local , Prognosis
8.
Article in Chinese | WPRIM | ID: wpr-887877

ABSTRACT

Circular RNA(circRNA)is a novel type of endogenous non-coding RNA.Most circRNAs act as microRNA(miRNA)sponges to regulate the expression of functional genes.In addition,some circRNAs can be translated and interact with RNA-binding proteins to perform biological functions.The expression of circRNAs is prevalent in tissues and body fluids,and their abnormal expression is related to tumor progression.circRNAs are stable even under the treatment of RNase R because of their circular conformation.As circRNAs have construct stability,wide variety,specific regulation of tumor progression and high expression in body fluids,it is potential for circRNAs to serve as candidate diagnostic,prognostic and therapeutic targets.However,the knowledge about circRNAs remains poor.In addition to the not completely resolved functions and generation mechanisms of circRNAs,the annotations of circRNAs are also waiting for expanding.Here,we review the generation mechanisms,biological functions,and application of circRNAs in tumor research,aiming to provide integrated information for the future research.


Subject(s)
Biomarkers, Tumor/genetics , MicroRNAs , Prognosis , RNA, Circular
9.
Article in Chinese | WPRIM | ID: wpr-887869

ABSTRACT

Objective To explore the function and mechanism of related genes in the occurrence and development of liver cancer, and the possibility of key genes as potential biomarkers and prognostic indicators for the treatment of liver cancer.Methods We selected 4 datasets(GSE57957, GSE121248, GSE36376 and GSE14520)from the GEO database.With


Subject(s)
Biomarkers, Tumor/genetics , Carrier Proteins , Computational Biology , Cytochrome P-450 CYP2E1 , Cytochrome P-450 CYP3A , Gene Expression Profiling , Gene Expression Regulation, Neoplastic , Gene Regulatory Networks , Glycoproteins , Humans , Liver Neoplasms/genetics , Prognosis , Protein Interaction Maps
10.
Chinese Journal of Biotechnology ; (12): 3042-3060, 2021.
Article in Chinese | WPRIM | ID: wpr-921405

ABSTRACT

Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related deaths and the fifth most common cancer worldwide. Clinically therapeutic options for HCC are very limited, and the overall survival rate of patients is very low. Therefore, early diagnosis and treatment of HCC have important impact on overall survival of patients. At present, alpha-fetoprotein (AFP) is one of the most widely used serological markers for HCC. Many evidences have shown that as a specific onco-protein, AFP has great research value in the occurrence, development, diagnosis and treatment of HCC. Here, we briefly introduce the molecular mechanism of AFP in the regulation of HCC occurrence and development, and its role in tumor escape from immune surveillance. We focus on the application of AFP as an important HCC target or carcino-embryonic antigen (CEA) in HCC clinical diagnosis and treatment.


Subject(s)
Biomarkers, Tumor/genetics , Carcinoma, Hepatocellular/therapy , Early Detection of Cancer , Humans , Liver Neoplasms/therapy , alpha-Fetoproteins
11.
Braz. j. med. biol. res ; 54(2): e9173, 2021. tab, graf
Article in English | ColecionaSUS, LILACS, ColecionaSUS | ID: biblio-1142586

ABSTRACT

This study aimed to explore the correlation of kinesin family member 2A (KIF2A) expression with disease risk, clinical characteristics, and prognosis of acute myeloid leukemia (AML), and investigate the effect of KIF2A knockdown on AML cell activities in vitro. Bone marrow samples were collected from 176 AML patients and 40 healthy donors, and KIF2A expression was measured by real-time quantitative polymerase chain reaction. Treatment response, event-free survival (EFS), and overall survival (OS) were assessed in AML patients. In vitro, KIF2A expression in AML cell lines and CD34+ cells (from healthy donors) was measured, and the effect of KIF2A knockdown on AML cell proliferation and apoptosis in HL-60 and KG-1 cells was detected. KIF2A expression was greater in AML patients compared to healthy donors, and receiver operating characteristic curve indicated that KIF2A expression predicted increased AML risk (area under curve: 0.793 (95%CI: 0.724-0.826)). In AML patients, KIF2A expression positively correlated with white blood cells, monosomal karyotype, and high risk stratification. Furthermore, no correlation of KIF2A expression with complete remission or hematopoietic stem cell transplantation was found. Kaplan-Meier curves showed that KIF2A expression was negatively correlated with EFS and OS. In vitro experiments showed that KIF2A was overexpressed in AML cell lines (KG-1, HL-60, ME-1, and HT-93) compared to CD34+ cells, moreover, cell proliferation was reduced but apoptosis was increased by KIF2A knockdown in HL-60 and KG-1 cells. In conclusion, KIF2A showed potential to be a biomarker and treatment target in AML.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Leukemia, Myeloid, Acute/diagnosis , Leukemia, Myeloid, Acute/genetics , Kinesin/genetics , Biomarkers, Tumor/genetics , Survival Rate , Risk Factors , Apoptosis , HL-60 Cells , Cell Proliferation , Gene Knockdown Techniques
12.
Frontiers of Medicine ; (4): 621-628, 2021.
Article in English | WPRIM | ID: wpr-888733

ABSTRACT

Multi-gene assays have emerged as crucial tools for risk stratification in early-stage breast cancer. This study aimed to evaluate the prognostic significance of the 21-gene recurrence score (RS) in Chinese patients with pN0-1, estrogen receptor-positive (ER


Subject(s)
Biomarkers, Tumor/genetics , Breast Neoplasms/pathology , Female , Humans , Neoplasm Recurrence, Local/pathology , Neoplasm Staging , Prognosis , Receptor, ErbB-2/genetics , Receptors, Estrogen
13.
Appl. cancer res ; 40: 1-12, Oct. 19, 2020. tab, ilus
Article in English | LILACS, Inca | ID: biblio-1281498

ABSTRACT

Background: Next-generation sequencing (NGS) based assay for finding an actionable driver in non-small-cell lung cancer is a less used modality in clinical practice. With a long list of actionable targets, limited tissue, arduous single-gene assays, the alternative of NGS for broad testing in one experiment looks attractive. We report here our experience with NGS for biomarker testing in hundred advanced lung cancer patients. Methods: Predictive biomarker testing was performed using the Ion AmpliSeq™ Cancer Hotspot Panel V2 (30 tumors) and Oncomine™ Solid Tumor DNA and Oncomine™ Solid Tumor Fusion Transcript kit (70 tumors) on IonTorrent sequencing platform. Results: One-seventeen distinct aberrations were detected across 29 genes in eighty-six tumors. The most commonly mutated genes were TP53 (43% cases), EGFR (23% cases) and KRAS (17% cases). Thirty-four patients presented an actionable genetic variant for which targeted therapy is presently available, and fifty-two cases harbored non-actionable variants with the possibility of recruitment in clinical trials. NGS results were validated by individual tests for detecting EGFR mutation, ALK1 rearrangement, ROS1 fusion, and c-MET amplification. Compared to single test, NGS exhibited good agreement for detecting EGFR mutations and ALK1 fusion (sensitivity- 88.89%, specificity- 100%, Kappa-score 0.92 and sensitivity- 80%, specificity- 100%, Kappa-score 0.88; respectively). Further, the response of patients harboring tyrosine kinase inhibitor (TKI) sensitizing EGFR mutations was assessed. The progression-free-survival of EGFR positive patients on TKI therapy, harboring a concomitant mutation in PIK3CAmTOR and/or RAS-RAF-MAPK pathway gene and/or TP53 gene was inferior to those with sole-sensitizing EGFR mutation (2 months vs. 9.5 months, P = 0.015). Conclusions: This is the first study from South Asia looking into the analytical validity of NGS and describing the mutational landscape of lung cancer patients to study the impact of co-mutations on cancer biology and treatment outcome. Our study demonstrates the clinical utility of NGS testing for identifying actionable variants and making treatment decisions in advanced lung cancer


Subject(s)
Humans , Male , Female , Proto-Oncogenes/genetics , Biomarkers, Tumor/genetics , Carcinoma, Non-Small-Cell Lung/genetics , High-Throughput Nucleotide Sequencing , Lung Neoplasms/genetics , Mutation/genetics , Reproducibility of Results
14.
Rev. argent. coloproctología ; 31(2): 51-53, jun. 2020.
Article in English, Spanish | LILACS | ID: biblio-1117007

ABSTRACT

Los contenidos de este capítulo se basan en la 3a edición de las Clínicas Quirúrgicas de Cáncer Colorrectal. C. Vaccaro y N. Peralta. del hospital ediciones 2020 (en prensa)


Subject(s)
Colorectal Neoplasms/genetics , Biomarkers, Tumor/genetics , Precision Medicine/trends , Pharmacogenetics/trends , Colorectal Neoplasms/etiology , Colorectal Neoplasms/therapy , Molecular Epidemiology/trends , Mutation , Neoplasm Metastasis/genetics , Neoplasm Metastasis/therapy
15.
Electron. j. biotechnol ; 43: 32-40, Jan. 2020. ilus, tab, graf
Article in English | LILACS | ID: biblio-1087567

ABSTRACT

Background: TP73 antisense RNA 1 (TP73-AS1), a newly discovered long non-coding RNA (lncRNA), has been reported to be upregulated in various kinds of tumors, and shows a variable influence on living quality and prognosis of patients. Thus, we conducted a meta-analysis to evaluate the overall prognostic value of the lncRNA TP73-AS1 in cancer patients. Results: A systematic literature retrieval was carried out using the PubMed, Cochrane Library, EMBASE, and Web of Science databases. We calculated the pooled hazard ratio (HR) and odds ratio (OR) with 95% confidence intervals (CIs) to evaluate the association of TP73-AS1 expression with prognostic and clinicopathological parameters. A total of 15 studies including 1057 cancer patients were finally selected for the meta-analysis. The results demonstrated that high TP73-AS1 expression was significantly associated with shorter overall survival (OS) (HR = 1.97, 95% CI: 1.68­2.31, P b 0.001). According to a fixed-effects or random-effects model, elevated TP73-AS1 expression markedly predicted advanced clinical stage (OR = 3.30, 95% CI: 2.35­4.64, P b 0.001), larger tumor size (OR = 2.37, 95% CI: 1.75­3.22, P b 0.001), earlier lymph node metastasis (OR = 3.28, 95% CI: 1.59­6.76, P = 0.001), and distant metastasis (OR = 4.94, 95% CI: 2.61­9.37, P b 0.001). Conclusions: High lncRNA TP73-AS1 expression appears to be predictive of a worse OS and clinicopathologic features for patients with various types of malignant tumors. These results provide a basis for utilizing TP73- AS1 expression as an unfavorable indicator to predict survival outcomes.


Subject(s)
Carcinoma/genetics , Biomarkers, Tumor/genetics , Neoplasms/genetics , Prognosis , Disease-Free Survival , RNA, Long Noncoding/genetics
16.
Rev. chil. endocrinol. diabetes ; 13(1): 6-10, 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1048791

ABSTRACT

Introducción: El gen FOXE1 (Forkhead box E1) codifica para un factor de transcripción involucrado en la morfogénesis tiroidea. El cáncer papilar de tiroides (CPT) se ha asociado con polimorfismos (SNP) de FOXE1 rs1867277 y rs965513 en población asiática y europea. Nuestro objetivo fue investigar la frecuencia y asociación de SNP rs1867277 y rs965513 con CPT y el riesgo de recurrencia de CPT en sujetos chilenos. Métodos: Se reclutaron sujetos con y sin CPT, se describieron sus características epidemiológicas y la forma de presentación clínica (AJCC VIII y MINSAL 2013). Se aisló ADN de leucocitos periféricos y evaluó ambos SNP mediante PCR-HRM y secuencia. Se compararon las frecuencias alélicas y genotípicas entre casos CPT y controles, y entre pacientes CPT de distintos riesgos de recurrencia. Se compararon frecuencia y se estimó el riesgo con test de Fisher y cálculo de odds-ratio (OR). Resultados: De los 184 sujetos, 156 (85%) eran mujeres, edad 39,3±12,3 años; 90 con CPT y 94 sin CPT 26 (28,9%) pacientes eran de riesgo muy bajo, 45 (50%) bajo, 16 (17,8%) intermedio y 3 (3,3%) alto según MINSAL 2013. En relación a la frecuencia de alelo menor (MAF) calculada en sujetos control y CPT, fue 31,7% y 24,5% (SNP rs965513), y 36,7% y 30,1% 8 (rs1867277), respectivamente (p NS). Tampoco fueron diferentes las MAF calculados y comparados entre pacientes con CPT de riesgo bajo e intermedio/alto. Sin embargo, la combinación de los genotipos rs1867277GG y rs965513AA se asoció a mayor riesgo de CPT. Conclusiones: En pacientes chilenos, se describe una frecuencia MAF de los SNP rs1867277 y rs965513 cercana a un 30%, las cuales no se asocian a CPT ni riesgo de recurrencia, sin embargo, sujetos con una combinación genotípica particular podrían tener mayor riesgo de CPT.


FOXE1 gene (Forkhead E1 box) codes for a transcription factor involved in thyroid morphogenesis. Papillary thyroid cancer (PTC) has been associated with FOXE1 polymorphisms (SNPs) rs1867277 and rs965513 in Asian and European population. Our aim was to investigate the frequency and the association of SNPs rs1867277 and rs965513 with PTC and the risk of recurrence of PTC in Chilean subjects. Methods: We recruited subjects with and without PTC. In those with PTC, their epidemiological characteristics and clinical features presentation are described according to AJCC VIII and MINSAL 2013 scales. Peripheral leukocyte DNA was isolated and both SNPs were evaluated using PCR-HRM and sequencing. Allelic and genotypic frequencies were compared between PTC cases and controls, and between PTC patients with different recurrence risks. Results: Of the 184 subjects, 156 (85%) were women, age 39.3 ± 12.3 years; 94 (51%) without PTC and 90 with PTC (49%): 26 (28.9%) patients had very low, 45 (50%) low, 16 (17.8%) intermediate and 3 (3.3%) high risk of recurence according to MINSAL 2013. Regarding the minor allele frequency (MAF) calculated on control and PTC subjects, was 31.7% and 24.5% (SNP rs965513), and 36.7% and 30.1% (rs1867277), respectively (p NS). In patients with PTC, MAFs were not different between patients with low and intermediate/high risk PTC. However, the combination of rs1867277GG and rs965513AA genotypes were associated with an increased risk of PTC. Conclusions: In Chilean patients, the MAF frequency of SNPs rs1867277 and rs965513 is near 30%, and they are are not associated with PTC or its risk of recurrence. However, subjects with a particular genotypic combination may have an increased risk of PTC.


Subject(s)
Humans , Male , Female , Adult , Thyroid Neoplasms/epidemiology , Polymorphism, Single Nucleotide , Thyroid Cancer, Papillary/epidemiology , Polymorphism, Genetic , Thyroid Neoplasms/genetics , Biomarkers, Tumor/genetics , Chile/epidemiology , Polymerase Chain Reaction , Risk Assessment , Genetic Predisposition to Disease , Forkhead Transcription Factors/genetics , Thyroid Cancer, Papillary/genetics , Gene Frequency , Genotype , Neoplasm Recurrence, Local/epidemiology
17.
Braz. j. med. biol. res ; 53(4): e9290, 2020. tab, graf
Article in English | LILACS | ID: biblio-1089356

ABSTRACT

This study was designed to investigate the expression of RBM8A protein in patients with gastric cancer (GC) and to explore its correlation with clinical pathological features as well as prognosis. One hundred pairs of gastric carcinoma tissues and adjacent tissues from patients undergoing gastrectomy for GC were included in this study. The protein expression level of RBM8A was determined by immunohistochemistry using tissue microarrays. We also detected the mRNA expression level of RBM8A in 16 pairs of gastric carcinoma tissues and adjacent tissues. Meanwhile, we predicted the potential correlation between RBM8A and tumor stages as well as survival condition in patents with GC based on The Cancer Genome Atlas (TCGA) database. The correlation of RBM8A with the clinical pathological features and prognosis of the 100 patients with GC was also elucidated. The expression level of RBM8A was significantly higher in gastric carcinoma tissues compared to the adjacent tissues. The protein level of RBM8A was correlated with tumor size (P=0.031), depth of invasion (P<0.001), lymph node metastasis (P<0.001), TNM stage (<0.001), and distant metastasis (P=0.001). Patients with increased RBM8A expression (P<0.0018, 95%CI=0.322−0.871), higher TNM stage (P<0.001, 95%CI=4.990−11.283), and lymph node metastasis (P<0.001, 95%CI=2.873−4.002) had a lower overall survival. Taken together, our study demonstrated that RBM8A may act as a proto-oncogene, which could be a promising biomarker and therapeutic target in the diagnosis and treatment of GC.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Stomach Neoplasms/metabolism , RNA-Binding Proteins/metabolism , Prognosis , Stomach Neoplasms/genetics , Stomach Neoplasms/pathology , RNA, Messenger/metabolism , Immunohistochemistry , Biomarkers, Tumor/genetics , Gene Expression Regulation, Neoplastic , Survival Analysis , Proto-Oncogene Proteins/metabolism , RNA-Binding Proteins/genetics , Gastric Mucosa/pathology , Lymphatic Metastasis/pathology , Neoplasm Metastasis , Neoplasm Staging
18.
Braz. arch. biol. technol ; 63: e20190511, 2020. tab, graf
Article in English | LILACS | ID: biblio-1132257

ABSTRACT

Abstract Long-chain non-encoded RNAs (lncRNAs) are important in many life activities and can participate in the occurrence of hepatocellular carcinoma (HCC). Moreover, lncRNAs can be used as basis for developing new strategies to hinder liver cancer. To investigate the utility of lncRNAs in HCC as potential biomarkers for early detection and diagnosis, we mined genomic data from the Cancer Genome Atlas (TCGA), and analyzed the gene expressions from 374 tumor patients and 50 normal patients. The abnormal expressions of 387 differentially expressed lncRNAs (DElncRNAs) were identified from a total of 3099 lncRNAs. Moreover, 18 modules were divided based on WGCNA, and 2 of the 18 modules were positively correlated with stage and grade, and negatively correlated with survival time. Finally, 10 lncRNAs were found and their main functions are the enhancement of cellular metabolic capacity and cell proliferation. These 10 lncRNAs may serve as novel prognostic markers and therapeutic targets, and may help guide subsequent studies on HCC.


Subject(s)
Humans , Biomarkers, Tumor/genetics , Genetic Markers/genetics , Carcinoma, Hepatocellular/genetics , RNA, Long Noncoding/genetics , Liver Neoplasms/genetics
19.
Biol. Res ; 53: 46, 2020. tab, graf
Article in English | LILACS | ID: biblio-1131889

ABSTRACT

BACKGROUND: Kidney cancer is one of the most common cancers in the world. It is necessary to clarify its underlying mechanism and find its prognostic biomarkers. Current studies showed that SHMT2 may be participated in several kinds of cancer. METHODS: Our studies investigated the expression of SHMT2 in kidney cancer by Oncomine, Human Protein Atlas database and ULCAN database. Meanwhile, we found its co-expression gene by cBioPortal online tool and validated their relationship in A498 and ACHN cells by cell transfection, western blot and qRT-PCR. Besides these, we also explored their prognostic values via the Kaplan-Meier plotter database in different types of kidney cancer patients. RESULTS: SHMT2 was found to be increased in 7 kidney cancer datasets, compared to normal renal tissues. For the cancer stages, ages and races, there existed significant difference in the expression of SHMT2 among different groups by mining of the UALCAN database. High SHMT2 expression is associated with poor overall survival in patients with kidney cancer. Among all co-expressed genes, NDUFA4L2 and SHMT2 had a high co-expression efficient. SHMT2 overexpression led to the increased expression of NDUFA4L2 at both mRNA and protein levels. Like SHMT2, overexpressed NDUFA4L2 also was associated with worse overall survival in patients with kidney cancer. CONCLUSION: Based on above results, overexpressed SHMT2 and its co-expressed gene NDUFA4L2 were all correlated with the prognosis in kidney cancer. The present study might be benefit for better understanding the clinical significance of SHMT2 and provided a potential therapeutic target for kidney cancer in future.


Subject(s)
Humans , Glycine Hydroxymethyltransferase/genetics , Electron Transport Complex I/genetics , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , RNA, Messenger , Biomarkers, Tumor/genetics , Gene Expression Regulation, Neoplastic , Neoplasm Staging
20.
Clinics ; 75: e1804, 2020. tab, graf
Article in English | LILACS | ID: biblio-1133489

ABSTRACT

OBJECTIVES: Retinoblastoma (RB) is a highly malignant eye tumor with a low survival rate and a high metastatic rate. The current work was designed to investigate the potential roles of microRNA-144 (miR-144) in the diagnosis and prognosis of RB. METHODS: miR-144 expression levels in RB tissues and adjacent normal tissues, as well as serum samples from RB patients and healthy controls were measured. The association between miR-144 expression levels and clinical features were analyzed. Moreover, diagnostic and prognostic values of miR-144 in RB were verified by receiver operating characteristic analysis and Kaplan-Meier survival assays. RESULTS: The expression level of miR-144 was markedly decreased in tumor tissues of RB patients, and the expression level of miR-144 was positively associated with tumor size and metastasis in RB patients. Moreover, miR-144 can distinguish tumor tissues from normal tissues with high specificity and sensitivity, and RB patients with lower miR-144 expression have shorter overall and disease-free survival rates than those with higher miR-144 expression. Alternatively, miR-144 also decreased in the serum of RB patients in comparison with healthy subjects, and miR-144 expression levels in the tissue samples and serum were positively correlated. Furthermore, miR-144 levels in the serum of RB patients sensitively distinguished RB patients from healthy controls. CONCLUSIONS: miR-144 expression was downregulated in serum and tissue samples of RB patients and may function as a diagnostic and prognostic marker for RB.


Subject(s)
Humans , Retinoblastoma/diagnosis , Retinoblastoma/genetics , Retinal Neoplasms/diagnosis , Retinal Neoplasms/genetics , MicroRNAs/genetics , Prognosis , Biomarkers, Tumor/genetics
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