AVANÇOS NO DIAGNOSTICO E TRATAMENTO DO CÂNCER: A MEDICINA DE PRECISÃO E O IMPACTO DO SEQUENCIAMENTO GENÉTICO NAS MUTAÇÕES BRCA1/2, EGFR E KRAS

Abstract

Genetic sequencing, especially with the advent of next-generation sequencing (NGS), has revolutionized the diagnosis and treatment of cancer, marking a new era in precision medicine. The transition from Sanger sequencing to NGS has led to significant advances in genomic analysis, enabling the detection of specific mutations associated with cancers such as breast, lung, and colorectal, through the identification of variants in genes like BRCA1/2, EGFR, and KRAS. These advances have made it possible to personalize treatments based on genetic profiles, improving therapeutic outcomes and reducing adverse effects. This study reviews the key impacts of genetic sequencing on cancer, with a focus on NGS, and explores its clinical applications, including the detection of genetic mutations and the use of targeted therapies. Precision medicine, based on NGS, allows treatment to be tailored according to the genetic profile of the tumor, promoting a more precise and individualized approach. Additionally, new technologies like CRISPR, combined with NGS, have the potential to further accelerate advancements in oncology. Despite the promises, the full implementation of these technologies faces challenges such as high costs and ethical issues related to the use of CRISPR. For NGS’s full potential to be realized, it is necessary to develop cost-effective solutions and ensure appropriate ethical regulations. In summary, genomics is transforming medicine, offering more precise and personalized treatments, with a significant impact on the management of cancer and other complex genetic diseases.