Cancer Genetics and Epigenetics 2024, Vol.12, No.3, 157-165 http://medscipublisher.com/index.php/cge 159 important suppressor genes, thereby increasing cancer risk. Chromosomal deletions can also cause chromosomal imbalance, affecting normal cellular functions. Chromosomal duplications refer to the duplication of a part or entire chromosome. This variation may lead to the overexpression of certain genes, promoting tumor growth. Inversions involve the reversal of two parts of a chromosome. This variation can affect the structure and function of the chromosome, impacting normal cell growth and division. 1.2 Functional impacts of gene mutations Gene mutations are one of the critical drivers of cancer development. They can be categorized into two main types based on their functional impact: activating mutations and inhibitory mutations. Both types of mutations can cause cells to lose normal growth and division control, promoting tumor formation. Studying the functional impacts of these gene mutations helps to better understand the mechanisms of cancer development and provides important information for developing therapeutic strategies. 1.2.1 Activating mutations Activating mutations are mutations that enhance or increase the function of a gene. These mutations typically lead to the production of abnormal proteins that become overly active within the cell, promoting cancer development. Activating mutations often result in certain genes becoming oncogenes, which normally regulate cell growth and division. For example, activating mutations in the RAS family genes can lead to abnormal cell growth and division (Hodge et al., 2020), which is common in various cancers. Activating mutations can also lead to the overactivation of signaling pathways that normally control cell growth and division. For instance, activating mutations can cause signaling proteins within the cell to become overly active, promoting uncontrolled cell growth. Additionally, activating mutations can result in the loss of normal gene expression regulation, including the loss of control by inhibitory factors, leading to the overexpression of certain genes within the cell. Activating mutations can also make cells resistant to apoptosis, a normal mechanism of cell death. This means that cancer cells can continue to grow and spread without being limited by the body's normal control mechanisms. 1.2.2 Inhibitory mutations Inhibitory mutations are mutations that reduce or abolish the normal function of a gene, typically leading to the inhibition of cell growth and division. These mutations also play a significant role in cancer development. Inhibitory mutations can cause a gene to completely lose its normal function, meaning the gene can no longer perform its biological functions, such as regulating cell growth or repairing DNA. This can result in abnormal cell proliferation and uncontrolled growth. Inhibitory mutations can also cause cells to lose their inhibitory effect on other genes. Normally, certain genes inhibit cell growth and division, but inhibitory mutations can cause this inhibition to fail, promoting abnormal cell proliferation. Some inhibitory mutations may lead to the failure of the cell's DNA repair mechanisms, meaning the cell cannot repair its own DNA damage. This can result in the accumulation of other mutations in the DNA, ultimately promoting cancer development. Inhibitory mutations can also cause cells to lose regulation of apoptosis (programmed cell death). This means that cells cannot undergo self-destruction, even if they have suffered severe DNA damage, and will continue to grow and spread. 2 Cancer Mutation Analysis Techniques 2.1 Genomic sequencing technologies Cancer mutation analysis is a crucial field of research that involves detecting and understanding genetic variations occurring in cancer cells. Genomic sequencing is a technique used to determine the entire genome of a tissue or cell. In cancer research, this technology helps researchers identify which genes have mutated. Common genomic sequencing technologies include NGS (Next-Generation Sequencing) and single-cell sequencing, which are often used to analyze individual genes in cancer cells.
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