ABSTRACT
Background: The study was conducted at Liaquat National Hospital, Karachi, from January 2023 to January 2024, with the aim of comprehensively understanding the impact of genetic mutations on the development and progression of cancer. Genetic mutations have been implicated in the initiation and progression of various cancers, but the underlying mechanisms, potential biomarkers, and therapeutic implications remain areas of active investigation.
Aim: The primary objective of this study was to elucidate the intricate mechanisms through which genetic mutations contribute to the development and progression of cancer. Furthermore, we sought to identify potential biomarkers associated with these mutations, which could aid in early diagnosis and prognosis. Ultimately, our aim was to explore therapeutic interventions that could exploit this genetic information to improve cancer treatment strategies.
Methods: We conducted a prospective study involving 65 cancer patients at Liaquat National Hospital. Tumor tissue samples were collected, and next-generation sequencing (NGS) was employed to analyze the genetic mutations present. Clinical data and follow-up information were recorded for each patient. Bioinformatics tools were used to assess the functional impact of identified mutations and potential therapeutic targets.
Results: Our study revealed a diverse landscape of genetic mutations in the tumor samples, with alterations in key cancer-associated genes, such as TP53, EGFR, and KRAS. Furthermore, we identified specific mutations that were associated with advanced stage and poor prognosis. Through bioinformatics analysis, we identified potential therapeutic targets for precision medicine approaches. Notably, we discovered biomarkers that showed promise for early detection and prognostic assessment.
Conclusion: Understanding the role of genetic mutations in cancer development and progression is essential for improving cancer management. This study sheds light on the diverse genetic alterations in cancer and their potential clinical significance. The identified biomarkers and therapeutic targets provide a foundation for personalized cancer treatment strategies, which could ultimately lead to improved patient outcomes.
Keywords: Genetic mutations, cancer, mechanisms, biomarkers, therapeutic implications, Liaquat National Hospital Karachi, next-generation sequencing, precision medicine, personalized treatment, early detection, prognosis.