Understanding How Genetic Mutations Collaborate with Genomic Instability in Cancer

Jilderda, Laura J; Zhou, Lin; Foijer, Floris

doi:10.3390/cells10020342

Cited by 5 publications

(1 citation statement)

References 124 publications

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“…It is a very important genetic marker and the variation in sequence from normal can indicate the presence of a carcinogenic process. [57][58][59] As a powerful technique in molecular genetics, DNA sequencing provides analysis of genes at the nucleotide level. The main focus of DNA sequencing is to determine the sequence of small regions of interest (∼1 kilobase) using a PCR product as a template.…”

Section: Dna Mutationmentioning

confidence: 99%

An Overview: Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies

Quraish¹,

Hirahata²,

Quraish³

et al. 2023

Cancer Inform

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Genomic instability is considered a fundamental factor involved in any neoplastic disease. Consequently, the genetically unstable cells contribute to intratumoral genetic heterogeneity and phenotypic diversity of cancer. These genetic alterations can be detected by several diagnostic techniques of molecular biology and the detection of alteration in genomic integrity may serve as reliable genetic molecular markers for the early detection of cancer or cancer-related abnormal changes in the body cells. These genetic molecular markers can detect cancer earlier than any other method of cancer diagnosis, once a tumor is diagnosed, then replacement or therapeutic manipulation of these cancer-related abnormal genetic changes can be possible, which leads toward effective and target-specific cancer treatment and in many cases, personalized treatment of cancer could be performed without the adverse effects of chemotherapy and radiotherapy. In this review, we describe how these genetic molecular markers can be detected and the possible ways for the application of this gene diagnosis for gene therapy that can attack cancerous cells, directly or indirectly, which lead to overall improved management and quality of life for a cancer patient.

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Section: Dna Mutationmentioning

confidence: 99%

An Overview: Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies

Quraish¹,

Hirahata²,

Quraish³

et al. 2023

Cancer Inform

View full text Add to dashboard Cite

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Bioinformatic identification of genomic instability-associated lncRNAs signatures for improving the clinical outcome of cervical cancer by a prognostic model

Zhang

Ding

et al. 2021

Sci Rep

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The research is executed to analyze the connection between genomic instability-associated long non-coding RNAs (lncRNAs) and the prognosis of cervical cancer patients. We set a prognostic model up and explored different risk groups' features. The clinical datasets and gene expression profiles of 307 patients have been downloaded from The Cancer Genome Atlas database. We established a prognostic model that combined somatic mutation profiles and lncRNA expression profiles in a tumor genome and identified 35 genomic instability-associated lncRNAs in cervical cancer as a case study. We then stratified patients into low-risk and high-risk groups and were further checked in multiple independent patient cohorts. Patients were separated into two sets: the testing set and the training set. The prognostic model was built using three genomic instability-associated lncRNAs (AC107464.2, MIR100HG, and AP001527.2). Patients in the training set were divided into the high-risk group with shorter overall survival and the low-risk group with longer overall survival (p < 0.001); in the meantime, similar comparable results were found in the testing set (p = 0.046), whole set (p < 0.001). There are also significant differences in patients with histological grades, FIGO stages, and different ages (p < 0.05). The prognostic model focused on genomic instability-associated lncRNAs could predict the prognosis of cervical cancer patients, paving the way for further research into the function and resource of lncRNAs, as well as a key approach to customizing individual care decision-making.

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CDCA7: A Comprehensive Pan-Cancer Analysis Reveals its Prognostic Significance, Immune Correlations, and Therapeutic Potential

Ding,

Cheng,

et al. 2023

Preprint

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Background Recent years have witnessed the emergence of Cell Division Cycle Associated 7 (CDCA7) as a participant in the genesis of diverse tumors. Despite this, comprehensive pan-cancer evaluations of CDCA7 remain scarce. Consequently, this study aims to rectify this gap by scrutinizing the potential implications of CDCA7 in pan-cancers. Methods We first assessed the expression levels of CDCA7 in 33 cancers and the association of its expression with tumor pathological stage using TCGA, GTEx, GEPIA2, TIMER2.0, TISIDB, UALCAN, and StarBase. Then, prognostic assessment was performed using GEPIA2 and Kaplan-Meier plotter. Gene alterations of CDCA7 were analyzed using cBioPortal, and renal clear cell carcinoma cells lines were screened to determine the function of CDCA7. Finally, we performed tumor immune infiltration analysis using TIMER2.0 and enrichment analysis of CDCA7 by STRING, GEPIA2, and DAVID. The role of CDCA7 in renal clear cell carcinoma (cc) was verified by qPCR, CCK8, wound healing, transwell and cell cycle assay. Results Our study demonstrated that CDCA7 exhibited notable expression across various cancers, and its heightened expression correlated with an unfavorable prognosis for tumor patients. Correlations emerged between CDCA7 expression and the presence of tumor-infiltrating immune cells (TIICs). Moreover, CDCA7 upregulation corresponded to CD8+ T cell infiltration in some tumors. Most malignancies demonstrated a positive relationship between CDCA7 and cancer-associated fibroblast infiltration. Enrichment studies unveiled CDCA7's involvement in cell cycle and DNA metabolism, in addition to its role in multiple signaling pathways that drive tumor progression. Experimental validations underscored CDCA7's role in stimulating the progression of renal clear cell carcinoma. Insights from CCK8 and cell cycle assays confirmed that CDCA7 inhibition attenuated cellular activity and curtailed proliferative capacity in 769-P cells. Wound healing and Transwell assays substantiated that CDCA7 blockade significantly reduced migration and invasion capabilities of 769-P cells. Additionally, quantitative PCR results corroborated the efficacy of CDCA7 inhibition in preventing the epithelial-mesenchymal transition state of renal clear cell carcinoma. Conclusions In conclusion, the comprehensive pan-cancer investigation imparts intricate insights into the engagement of CDCA7 in carcinogenesis. Our findings indicate that CDCA7 holds the potential to serve as a valuable prognostic marker and an alluring target for therapeutic interventions, thereby unveiling novel avenues for future research.

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Understanding How Genetic Mutations Collaborate with Genomic Instability in Cancer

Cited by 5 publications

References 124 publications

An Overview: Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies

An Overview: Genetic Tumor Markers for Early Detection and Current Gene Therapy Strategies

Bioinformatic identification of genomic instability-associated lncRNAs signatures for improving the clinical outcome of cervical cancer by a prognostic model

CDCA7: A Comprehensive Pan-Cancer Analysis Reveals its Prognostic Significance, Immune Correlations, and Therapeutic Potential

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