GENOMICS IN CANCER
CHAPTER ONE
INTRODUCTION
1.1 Background of the Study
Genomics has revolutionized the field of cancer research and treatment, providing profound insights into the molecular underpinnings of the disease. This field focuses on the study of genomes, the complete set of DNA within an organism, including all of its genes. The application of genomic technologies, particularly next-generation sequencing (NGS), has enabled researchers to analyze genetic variations associated with cancer, leading to improved diagnostic and therapeutic strategies (Mardis, 2018). In recent years, advancements in genomics have significantly enhanced our understanding of cancer biology, including the identification of oncogenes and tumor suppressor genes, as well as the role of epigenetic modifications in cancer development (Yoshida & Erwin, 2021).
Cancer is a heterogeneous disease characterized by uncontrolled cell growth and proliferation, which can lead to metastasis and ultimately death if not adequately treated. The National Cancer Institute (NCI) estimates that over 1.9 million new cancer cases and nearly 600,000 cancer-related deaths will occur in the United States in 2021 alone (NCI, 2021). The complexity of cancer is attributed not only to genetic factors but also to environmental influences, lifestyle choices, and the interactions between different biological systems (Hanahan & Weinberg, 2011). Therefore, understanding the genetic basis of cancer is critical for the development of personalized medicine approaches, which aim to tailor treatment strategies to individual patients based on their specific genetic profiles (Schwartzberg et al., 2018).
Recent genomic studies have highlighted the importance of identifying somatic mutations that occur in cancer cells, which differ from inherited mutations present in germline DNA. These somatic mutations can provide critical information about tumor behavior, prognosis, and treatment response (Kandoth et al., 2013). For instance, targeted therapies such as small molecule inhibitors are designed to specifically target the mutated proteins produced by these oncogenes, leading to improved outcomes for patients with certain cancer types (Gottesman, 2018). Additionally, the advent of immunotherapy has been propelled by the identification of neoantigens—novel antigens that arise from tumor-specific mutations—which can elicit an immune response and
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