Mutations in Germline Cancer Susceptibility Genes - Understanding Tumor Initiation, Progression, Treatment and Prognosis through Genomic Profiling
1, 3, 4 University of Lagos, Biochemistry Department, Faculty of Basic Medical Sciences, College of Medicine, Lagos State, Nigeria. 2Olabisi Onabanjo University, Department of Zoology and Environmental Biology, Faculty of Science, Ago-Iwoye, Ogun State, Nigeria. 3Delta State University, Biochemistry Department, Faculty of Science, Abraka, Delta State, Nigeria.
Citation: Henry Wealth Oyarieme, Jerome Otiti, et al., “Mutations in Germline Cancer Susceptibility Genes - Understanding
Tumor Initiation, Progression, Treatment and Prognosis through Genomic Profiling”, American Research Journal of
Biosciences, Vol 9, no. 1, 2024, pp. 11-20.
Abstract
Cancer is primarily a genetic disease resulting from accumulated mutations that result in excessive proliferation,
decline in replication regulation, evading growth suppressors, resist apoptosis, immortality of cells, and activation of
tissue invasion and metastasis. The advent of next-generation sequencing (NGS) in the last decade has changed our
knowledge of genetics, especially in diagnosing inherited cancer-susceptible genes. The cost-effectiveness and efficiency
of sequencing multiple genes at once have led to its extensive use in research and clinical applications. This review aims
to examine the genetic basis of germline susceptible genes, highlighting the significance of the key genetic mutations, the
impact of NGS technologies, and the incorporation of artificial intelligence technology in cancer diagnosis, treatment, and
prognosis. Genomic profiling and functional studies through NGS and AI-assistant technologies provide detailed insights
into the heterogeneity of tumors, identifying key mutations and potential therapeutic targets. This technology enables personalized cancer treatment approaches, enhancing the efficacy of interventions and improving patient outcomes.
