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INTERNATIONAL CONGRESS OF

CancerGenetics

• Investigation of the Relationship Between Genetic and Environmental Factors Along with Epstein-Barr Virus (EBV) Infection in the Development of Nasopharyngeal Carcinoma from a Cancer Genetics Perspective

• Mohammad Esmaeil Jouybari,¹ Ali Ahmadi,^2,*
  1. MD, The Ear, Nose, and Throat (ENT) clinic of Dr. Jouybari, Sari, Iran
  2. M.Sc. Student of Genetics, Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
  
  
  
• Introduction: Genetic changes can lead to differences in gene function, affecting susceptibility to diseases such as cancer. Nasopharyngeal carcinoma (NPC) is one of the most common malignancies of the head and neck. Significant information has been gathered regarding the role of genetic factors in the pathogenesis of cancer, particularly in relation to the interaction between Epstein-Barr virus (EBV) infection and environmental factors. Complex interactions among various elements, including viral infections, individual genetic predisposition, environmental influences, and dietary factors, contribute to the pathogenesis of this malignancy. NPC is notably prevalent in regions such as: Southern China, North Africa, and Alaska. The pathogenesis of NPC is multifactorial due to interactions between host genetics, viral infections, and environmental factors, and it is closely associated with genetic and epigenetic changes. Despite promising outcomes for early-stage NPC patients, most cases present as locally advanced disease. Currently, access to early diagnosis and treatment for NPC is limited, and the precise molecular pathways leading to NPC development remain unclear. Therefore, research into potential biomarkers for facilitating early identification and improving prognosis for NPC patients is essential. There is limited documented information on targeted molecular therapies for NPC using genetic and epigenetic markers; thus, further studies are needed to fully integrate these biomarkers into NPC management. The aim of this study is to determine the relationship between genetic and environmental factors along with EBV infection in the development of nasopharyngeal carcinoma from a cancer genetics perspective.
• Methods: This research is a narrative review study aimed at collecting and presenting information on the relationship between environmental and genetic factors in nasopharyngeal carcinoma (NPC), focusing on articles published up to 2024. The study utilized keyword searches such as "Genetic and Environmental Factors," "EBV," "Nasopharyngeal Carcinoma," and "Cancer Genetics" in reputable databases like Science Direct, Scopus, PubMed, and Web of Science.
• Results: Previous studies have shown that several factors are associated with the development of nasopharyngeal carcinoma (NPC). These factors include nutritional influences, infection with the oncogenic Epstein-Barr virus (EBV), and genetic predisposition. NPC is linked to genetic changes in specific chromosomal regions and genes, the presence of specific polymorphisms associated with cancer, and familial clustering. Notably, recent studies have confirmed that epigenetic changes, such as: promoter hyper methylation, are also critical factors related to NPC. A multi-step progression model for NPC has been proposed, highlighting the essential roles of genetic and epigenetic factors in its pathogenesis. Case-control studies have indicated a relationship between genetic polymorphisms and the risk of developing NPC. Although most of these studies have not been replicated in other locations, several genes—including human leukocyte antigen (HLA) genes like DRB1, DQA1, DQB1, and DPB1; the DNA repair gene RAD51L1; cell cycle control genes MDM2 and TP53; as well as the cell adhesion/migration gene MMP2—have been consistently associated with NPC occurrence. Additionally, genetic polymorphisms related to cytokine genes are also linked to NPC development; however, further studies are needed to validate their contributions to NPC pathogenesis. Biological signal analysis, understanding these signals, and data management are components of bioinformatics. Recent advancements in artificial intelligence and machine learning algorithms suggest that bioinformatics will play an increasingly significant role in cancer biology. Recent studies have shown that NPC is associated with a low mutation rate, significant epigenetic changes, and disturbances in microRNAs and long non-coding RNAs. Various factors, including host genetics, viral infections, and environmental influences, contribute to NPC tumorigenesis, all playing essential roles in modulating epigenetic changes. Abnormal epigenetic alterations, particularly DNA methylation, have been reported in NPC.
• Conclusion: Bioinformatics tools are being developed to address complex issues such as predicting clinical outcomes and identifying factors that influence changes in the tumor-immune environment. With advancements in gene chip technologies and RNA sequencing, these tools play a significant role in screening potential biomarkers for diseases, especially cancers. Additionally, these techniques are applied in rapid diagnosis and targeted molecular therapies for various types of cancer. Bioinformatics is recognized as a key science in the diagnosis, treatment, prevention, and control of diseases, utilizing diverse information and techniques to enhance clinical processes.
• Keywords: Genetic and Environmental Factors, EBV, Nasopharyngeal Carcinoma, Cancer Genetics