Book Title: Molecular Diagnostics and Genomic Medicine: Transforming Healthcare with AI
Editors: Dr. Alok Kumar Srivastav, Dr. Priyanka Das, Dr. Babasaheb Ghodke, and Dr. Nikita Pathak
Chapter: 6
DOI: https://doi.org/10.59646/978-81-69297-97-4_6
Authors: Priyanka Das, Alok Kumar Srivastav, Nikita Pathak, Babasaheb Ghodke
Abstract
Molecular oncology has transformed cancer diagnosis and treatment by enabling comprehensive analysis of genetic and molecular alterations that drive tumor development and progression. The chapter examines cancer-associated genetic aberrations, including oncogene activation, tumor suppressor loss, and chromosomal rearrangements, highlighting their roles in oncogenesis. It explores the application of next-generation sequencing (NGS) for high-throughput genomic profiling, facilitating the identification of actionable mutations and tumor heterogeneity. Predictive biomarkers such as EGFR, HER2, BCR-ABL, and MSI are discussed for their critical role in guiding targeted therapies and improving clinical outcomes. The integration of molecular diagnostics with personalized medicine is emphasized through pharmacogenomics and toxicity prediction, ensuring optimized treatment selection and reduced adverse effects. Collectively, these advancements support precision oncology by aligning therapeutic strategies with individual tumor profiles and patient-specific factors.
Keywords: Molecular oncology, Next-generation sequencing, Predictive biomarkers, Targeted therapy, Pharmacogenomics, Precision medicine.
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