Genomics in cancer

Thesis Abstract

Abstract
Cancer is a complex disease characterized by the accumulation of genetic alterations that drive the transformation of normal cells into malignant ones. Recent advances in genomics have revolutionized our understanding of the genetic basis of cancer, leading to the identification of numerous genetic mutations and alterations that contribute to tumorigenesis. The field of cancer genomics aims to decipher the genetic landscape of different cancer types, identify key driver mutations, and develop targeted therapies based on the genetic profile of individual tumors. One of the major breakthroughs in cancer genomics is the advent of next-generation sequencing (NGS) technologies, which allow researchers to sequence the entire genome or specific regions of interest in a high-throughput and cost-effective manner. NGS has enabled the comprehensive characterization of cancer genomes, revealing the wide spectrum of genetic alterations present in different types of cancer. By analyzing the mutational landscape of cancer genomes, researchers have identified recurrent mutations in key oncogenes and tumor suppressor genes that drive cancer development and progression. In addition to identifying genetic mutations, cancer genomics has also shed light on the role of non-coding regions of the genome in cancer. Non-coding regions, which were previously thought to be "junk DNA," have been found to play important regulatory roles in gene expression and cellular processes. Mutations in non-coding regions, such as enhancers and promoters, can dysregulate gene expression and contribute to cancer development. By integrating genomic data with functional studies, researchers are beginning to unravel the complex regulatory networks that govern gene expression in cancer. Furthermore, cancer genomics has paved the way for the development of precision medicine approaches in oncology. By profiling the genetic alterations in individual tumors, clinicians can tailor treatment strategies to target specific vulnerabilities in the cancer cells. Precision medicine strategies, such as targeted therapies and immunotherapies, have shown promising results in clinical trials and have led to improved outcomes for patients with certain types of cancer. Moving forward, the integration of genomics into routine clinical practice holds the potential to transform cancer treatment by enabling personalized and targeted therapies for each patient based on the unique genetic profile of their tumor.