Microsatellite Instability Testing Genomic instability in cancer cells refers to the increased frequency of genetic alterations that occur during tumor development and progression. Unlike normal cells, cancer cells accumulate mutations, chromosomal rearrangements, copy number alterations, and aneuploidy at a significantly higher rate. This instability arises from defects in DNA repair pathways, replication stress, telomere dysfunction, and impaired cell cycle checkpoints. Genomic instability is a key driver of tumor heterogeneity, enabling cancer cells to adapt, evolve, and develop resistance to therapy. It contributes to the activation of oncogenes, inactivation of tumor suppressor genes, and the emergence of aggressive cancer phenotypes. Clinically, understanding genomic instability helps guide targeted therapies, immunotherapy decisions, and precision oncology strategies. Genomic Instability Cancer Cells Chromosomal Instability (CIN) Microsatellite Instability (MSI) DNA Damage D...
Single-Gene (Cystic Fibrosis) Cystic Fibrosis is a hereditary single-gene genetic disorder caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene . It primarily affects the lungs, pancreas, and other organs that produce mucus and digestive fluids. In individuals with cystic fibrosis, the CFTR gene mutation disrupts the normal transport of chloride and sodium ions across cell membranes, leading to the production of thick, sticky mucus . This mucus can clog airways, cause chronic respiratory infections, impair digestion, and reduce nutrient absorption. Cystic fibrosis follows an autosomal recessive inheritance pattern , meaning a child must inherit two defective copies of the gene—one from each parent—to develop the disease. Advances in genetic screening , early diagnosis, and targeted therapies have significantly improved life expectancy and disease management. Single-Gene Disorder, Cystic Fibrosis, CFTR Gene, Autosomal Recessive Inheritance, Genet...