scholarly journals Differential Gene Expression in Patients With Prostate Cancer and in Patients With Parkinson Disease: an Example of Inverse Comorbidity

2021 ◽  
Author(s):  
Pietro Pepe ◽  
Simona Vetrano ◽  
Rossella Cannarella ◽  
Aldo E Calogero ◽  
Giovanna Marchese ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Causes Of Death ◽  
Genetic Factors ◽  
Target Genes ◽  
Lewy Bodies ◽  
Control Group ◽  
Healthy Donors ◽  
Differential Gene ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Prostate cancer (PCa) is one of the leading causes of death in Western countries. Environmental and genetic factors play a pivotal role in PCa etiology. Timely identification of the genetic causes is useful for an early diagnosis. Parkinson’s disease (PD) is the most frequent neurodegenerative movement disorder; it is associated with the presence of Lewy bodies (LBs) and genetic factors are involved in its pathogenesis. Several studies have indicated that the expression of target genes in patients with PD is inversely related to cancer development; this phenomenon has been named “inverse comorbidity”. The present study was undertaken to evaluate whether a genetic dysregulation occurs in opposite directions in patients with PD or PCa. In the present study, next-generation sequencing (NGS) transcriptome analysis was used to assess whether a genetic dysregulation in opposite directions occurs in patients with PD or PCa. The genes SLC30A1, ADO, SRGAP2C, and TBC1D12 resulted up-regulated in patients with PD compared to healthy donors as controls and down-regulated in patients with PCa compared with the same control group. These results support the hypothesis of the presence of inverse comorbidity between PD and PCa.

scholarly journals Comparative Study of NGS Platform Ion Torrent Personal Genome Machine and Therascreen Rotor-Gene Q for the Detection of Somatic Variants in Cancer

2020 ◽  
Vol 9 (1) ◽  
pp. 4
Author(s):  
Angela Lombardi ◽  
Margherita Russo ◽  
Amalia Luce ◽  
Floriana Morgillo ◽  
Virginia Tirino ◽  
...  
Keyword(s):  
Target Genes ◽  
Personal Genome ◽  
Analysis Method ◽  
Wild Type ◽  
Specific Analysis ◽  
Current Therapies ◽  
Genomic Aberrations ◽  
Melanoma Patients ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Molecular profiling of a tumor allows the opportunity to design specific therapies which are able to interact only with cancer cells characterized by the accumulation of several genomic aberrations. This study investigates the usefulness of next-generation sequencing (NGS) and mutation-specific analysis methods for the detection of target genes for current therapies in non-small-cell lung cancer (NSCLC), metastatic colorectal cancer (mCRC), and melanoma patients. We focused our attention on EGFR, BRAF, KRAS, and BRAF genes for NSCLC, melanoma, and mCRC samples, respectively. Our study demonstrated that in about 2% of analyzed cases, the two techniques did not show the same or overlapping results. Two patients affected by mCRC resulted in wild-type (WT) for BRAF and two cases with NSCLC were WT for EGFR according to PGM analysis. In contrast, these samples were mutated for the evaluated genes using the therascreen test on Rotor-Gene Q. In conclusion, our experience suggests that it would be appropriate to confirm the WT status of the genes of interest with a more sensitive analysis method to avoid the presence of a small neoplastic clone and drive the clinician to correct patient monitoring.

scholarly journals Association of miR-1251-5p/miR-6892-5p Expression With Clinicopathological Factors in Premenopausal Endometrial Cancer

2021 ◽  
Author(s):  
Jing Zhang ◽  
Bin Li ◽  
Yang Liu ◽  
Fei Wang ◽  
Yu Zhang ◽  
...  
Keyword(s):  
Endometrial Cancer ◽  
Target Genes ◽  
Tumor Grading ◽  
Node Metastasis ◽  
Predict Mirna Target ◽  
Next Generation Sequencing Ngs ◽  
The Relationship ◽  
Generation Sequencing ◽  
Menarche Age ◽  
Selection Of

Abstract Background This study is aim to profile the differentially expressed microRNAs (DEMs) of premenopausal endometrial cancer (EC), identify their target genes and understand their roles in carcinogenesis. Methods Next-generation sequencing (NGS) was performed on 3 premenopausal EC and 3 premenopausal normal endometrial tissues. Selection of candidate miRNAs and subsequent validation were performed by qRT-PCR on 20 premenopausal EC, 30 premenopausal normal endometrial and 40 postmenopausal EC samples. The relationship between DEMs and clinical characteristics was analyzed. Moreover, bioinformatic software programs and databases were applied to predict miRNA target genes, molecular functions, and signaling pathways. Results 136 upregulated and 131 downregulated DEMs were identified. The expression of miR-1251-5p was highly upregulated in premenopausal EC samples compared with premenopausal normal endometrial samples and significantly downregulated compared with postmenopausal EC samples. The expression of miR-6892-5p was highly upregulated in premenopausal EC samples compared with premenopausal normal endometrial samples and postmenopausal EC samples. In the premenopausal EC group, miR-1251-5p expression was closely correlated with menarche age, number of pregnancies, tumor grading, myometrial infiltration and lymph node metastasis; miR-6892-5p expression was closely correlated with BMI, hypertension, tumor grading, and metastasis. Conclusions miR-1251-5p and miR-6892-5p may play important roles in tumorigenesis progression of premenopausal EC.

Current Challenges and Implications of Proteogenomic Approaches in Prostate Cancer

2020 ◽  
Vol 20 (22) ◽  
pp. 1968-1980
Author(s):  
Nidhi Shukla ◽  
Narmadhaa Siva ◽  
Babita Malik ◽  
Prashanth Suravajhala
Keyword(s):  
Prostate Cancer ◽  
Next Generation Sequencing ◽  
Candidate Genes ◽  
Next Generation ◽  
Recent Past ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data ◽  
Omic Data ◽  
Generation Sequencing

In the recent past, next-generation sequencing (NGS) approaches have heralded the omics era. With NGS data burgeoning, there arose a need to disseminate the omic data better. Proteogenomics has been vividly used for characterising the functions of candidate genes and is applied in ascertaining various diseased phenotypes, including cancers. However, not much is known about the role and application of proteogenomics, especially Prostate Cancer (PCa). In this review, we outline the need for proteogenomic approaches, their applications and their role in PCa.

scholarly journals Genomic and Histopathological Tissue Biomarkers That Predict Radiotherapy Response in Localised Prostate Cancer

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Anna Wilkins ◽  
David Dearnaley ◽  
Navita Somaiah
Keyword(s):  
Prostate Cancer ◽  
External Beam Radiotherapy ◽  
Treatment Options ◽  
Cell Cycle Checkpoints ◽  
Survival Outcomes ◽  
Androgen Synthesis ◽  
Genomic Assays ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Tumour Proliferation

Localised prostate cancer, in particular, intermediate risk disease, has varied survival outcomes that cannot be predicted accurately using current clinical risk factors. External beam radiotherapy (EBRT) is one of the standard curative treatment options for localised disease and its efficacy is related to wide ranging aspects of tumour biology. Histopathological techniques including immunohistochemistry and a variety of genomic assays have been used to identify biomarkers of tumour proliferation, cell cycle checkpoints, hypoxia, DNA repair, apoptosis, and androgen synthesis, which predict response to radiotherapy. Global measures of genomic instability also show exciting capacity to predict survival outcomes following EBRT. There is also an urgent clinical need for biomarkers to predict the radiotherapy fraction sensitivity of different prostate tumours and preclinical studies point to possible candidates. Finally, the increased resolution of next generation sequencing (NGS) is likely to enable yet more precise molecular predictions of radiotherapy response and fraction sensitivity.

scholarly journals MicroRNA Profiling of HL-1 Cardiac Cells-Derived Extracellular Vesicles

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 273
Author(s):  
Serena Silvestro ◽  
Agnese Gugliandolo ◽  
Luigi Chiricosta ◽  
Francesca Diomede ◽  
Oriana Trubiani ◽  
...  
Keyword(s):  
Extracellular Vesicles ◽  
Target Genes ◽  
Cell Types ◽  
Cardiac Cells ◽  
Myoblast Differentiation ◽  
Cardiovascular Development ◽  
Adult Cardiomyocytes ◽  
A Cell ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

HL-1 is a cell line that shows a phenotype similar to adult cardiomyocytes. All major cardiac cell types release extracellular vesicles (EVs) that emerge as key mediators of intercellular communication. EVs can mediate intercellular cross-talk through the transfer of specific microRNAs (miRNAs). MiRNAs are known to play important regulatory roles during tissue differentiation and regeneration processes. Furthermore, miRNAs have recently been shown to be involved in the proliferation of adult cardiomyocytes. In this context, the purpose of this study was to analyze the transcriptomic profile of miRNAs expressed from HL-1 cardiac muscle cell-derived EVs, using next generation sequencing (NGS). Specifically, our transcriptomic analysis showed that the EVs derived from our HL-1 cells contained miRNAs that induce blood vessel formation and increase cell proliferation. Indeed, our bioinformatics analysis revealed 26 miRNAs expressed in EVs derived from our HL-1 that target genes related to cardiovascular development. In particular, their targets are enriched for the following biological processes related to cardiovascular development: heart morphogenesis, positive regulation of angiogenesis, artery development, ventricular septum development, cardiac atrium development, and myoblast differentiation. Consequently, EVs could become important in the field of regenerative medicine.

scholarly journals Gene4HL: An Integrated Genetic Database for Hearing Loss

2021 ◽  
Vol 12 ◽  
Author(s):  
Shasha Huang ◽  
Guihu Zhao ◽  
Jie Wu ◽  
Kuokuo Li ◽  
Qiuquan Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Candidate Genes ◽  
Genetic Factors ◽  
Genetic Data ◽  
Industrialized Countries ◽  
Genetic Database ◽  
Comprehensive Knowledge ◽  
One Stop ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Hearing loss (HL) is one of the most common disabilities in the world. In industrialized countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by genetic factors. Next generation sequencing (NGS) has been widely used to identify many candidate genes and variants in patients with HL, but the data are scattered in multitudinous studies. It is a challenge for scientists, clinicians, and biologists to easily obtain and analyze HL genes and variant data from these studies. Thus, we developed a one-stop database of HL-related genes and variants, Gene4HL (http://www.genemed.tech/gene4hl/), making it easy to catalog, search, browse and analyze the genetic data. Gene4HL integrates the detailed genetic and clinical data of 326 HL-related genes from 1,608 published studies, along with 62 popular genetic data sources to provide comprehensive knowledge of candidate genes and variants associated with HL. Additionally, Gene4HL supports the users to analyze their own genetic engineering network data, performs comprehensive annotation, and prioritizes candidate genes and variations using custom parameters. Thus, Gene4HL can help users explain the function of HL genes and the clinical significance of variants by correlating the genotypes and phenotypes in humans.

scholarly journals Platinum-Based Neoadjuvant Chemotherapy Before Radical Prostatectomy for Locally Advanced Prostate Cancer With Homologous Recombination Deficiency: A Case Report

2022 ◽  
Vol 11 ◽  
Author(s):  
Junlong Zhuang ◽  
Shun Zhang ◽  
Xuefeng Qiu ◽  
Yao Fu ◽  
Shuyue Ai ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Radical Prostatectomy ◽  
Homologous Recombination ◽  
Neoadjuvant Chemotherapy ◽  
Potential Role ◽  
Locally Advanced ◽  
Locally Advanced Prostate Cancer ◽  
Next Generation Sequencing Ngs ◽  
Platinum Agents ◽  
Generation Sequencing

More emerging evidence showed that homologous recombination (HR) defect (HRD) may predict sensitivity to platinum agents in metastatic prostate cancer (PCa). Platinum-based neoadjuvant chemotherapy for PCa with HRD has not been reported. Here, we reported a man diagnosed as locally advanced PCa with high Gleason Score (5 + 5) and low PSA level (5.2 ng/ml). Next-generation sequencing (NGS) demonstrated HRD. He received six cycles of platinum-based neoadjuvant chemotherapy before radical prostatectomy (RP). Fifteen months after RP, his PSA level was still undetectable, and no imaging progression was found, indicating a potential role for platinum-based neoadjuvant chemotherapy in locally advanced PCa with HRD.

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