Commentary - (2022) Volume 16, Issue 4
Received: 05-Apr-2022, Manuscript No. jmgm-22-65638;
Editor assigned: 07-Apr-2022, Pre QC No. P-65638;
Reviewed: 12-Apr-2022, QC No. Q-65638;
Revised: 18-Apr-2022, Manuscript No. R-65638;
Published:
24-Apr-2022
, DOI: 10.37421/1747-0862.2022.16.550
Citation: William, Sukov. “Genomic Variations in Oncology.” J Mol Genet Med 16 (2022): 550.
Copyright: © 2022 William S. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Precision oncology relies on reliable genetic variant identification and interpretation to enable personalized diagnosis, prognosis, and therapy selection. Cancer research has been altered by genomic technology and methodologies, which have resulted in the creation of large-scale cancer genomics databases. Individual samples from such compendia have been molecularly characterized and classified, leading to the formation of molecular subtypes of malignancies and a better knowledge of the molecular etiologies of carcinogenesis. Deeper, faster, and broader genomic characterization has hastened the discovery of innovative and successful targeted medicines, allowing early application of molecular characterization at the point of care to assist clinical decision-making and address resistance to main therapy. Immune approaches to cancer can also benefit from genomic characterization.
Chimeric antigen receptor T-cell (CARt) therapy, for example, has had a lot of success in diseases with well-characterized antigens that are largely tumorspecific, as determined by genomic profiling. The paradigm of applying highthroughput genomic techniques to patient samples, referred to variously as precision oncology, genomics-driven oncology, genomic oncology, and even simply as precision medicine, is rapidly changing the face of oncology care and clinical oncology research. Because of the genetic heterogeneity of cancers originating from a single original tissue, traditional approaches to clinical trial design may be insufficient, leading to the use of basket, umbrella, and hybrid trial designs.
A variety of studies are currently being conducted to investigate the feasibility and impact of precision genomic oncology at the point-of-care. High Through-put Sequencing (HTS) applied to patient samples is also informing immune-based treatment approaches, in addition to studies focused on discovering targetable mutations. Assays for single-target detection have been phased out in favor of Next-generation Sequencing (NGS) or massively parallel sequencing in recent years. This method allows for the evaluation of multiple genes at the same time as well as the production of millions of short nucleic acid sequences. The NGS high-throughput platform is more efficient and cost-effective, and it delivers information that single gene-by-gene Sanger DNA sequencing analysis and gene-specific targeted hot spot mutation assays do not.
The complexity of carcinogenesis, including the multistep process of genetic changes and tumor heterogeneity, is attributable to the large number of variations found by NGS in tumor tissue (i.e., multiple clones of cells with related but distinct molecular signatures within tumors). Tumor refers to tissue that has developed from a benign or malignant neoplasm. For any particular patient, NGS data produced using DNA or RNA isolated from tumor tissue usually reveal a complex molecular signature that differs from that of normal tissue. The relevance of the change in terms of cancer is determined by the type of genetic anomaly, the location of the variant, and the protein's normal function. Germline and somatic genetic variations exist [1-3].
A germline variation is a genetic change that occurs within the germ cells (egg or sperm) and can be passed down to future generations. A somatic variation is a genetic change that occurs in any of the body's cells other than the germ cells and is not handed down to following generations. A missense mutation in the functional or kinase domain of the protein, allowing for autophosphorylation of the protein, loss of regulation for downstream signaling, and uncontrolled cell growth and proliferation, could be activating. Inactivating mutations, such as nonsense, splice-site, and frameshift insertion/ deletion mutations, on the other hand, can result in the loss of function of a tumor-suppressor gene.
Single-nucleotide Variations (SNVs) that induce a missense, silent, or nonsense amino acid change, or a splice site mutation that affects normal mRNA transcript splicing, were found. Many of the genes involved in cancer formation fall into one of three categories: Genes that inhibit tumors. These are genes that safeguard you. They normally restrict cell development by:
1) Keeping track of how quickly cells split into new ones.
2) Fixing mismatched DNA, and
3) Managing cell death a tumor suppressor gene mutation causes cells to expand out of control. They may also develop into a tumor. BRCA1, BRCA2, and p53 or TP53 are examples of tumor suppressor genes. Hereditary breast and ovarian cancers are more common in women with BRCA1 or BRCA2 gene abnormalities, while hereditary prostate and breast cancers are more common in men. In both men and women, they raise the risk of pancreatic cancer and melanoma. p53 or TP53 is the most altered gene in cancer patients. A missing or damaged p53 gene is seen in more than half of all malignancies. The vast majority of p53 gene mutations are acquired. Although p53 mutations in the germline are uncommon, those who have them are at a higher risk of developing a variety of cancers [4,5].
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