GENETIC SEQUENCING IN THE EARLY SCREENING OF BREAST CANCER

Abstract

Introduction: Breast cancer is the most common neoplasm among women, and its early detection is associated with reduced mortality. Genetic sequencing has emerged as a complementary tool to traditional screening methods. This study analyzed the effectiveness of genetic sequencing in the early screening of breast cancer, comparing it with conventional strategies. Objectives: To analyze the evidence regarding the effectiveness of genetic sequencing in the early screening of breast cancer, particularly among women at high genetic risk, describing the main genes associated with hereditary predisposition and evaluating its potential to improve prevention strategies and guide public policies. Methodology: This integrative review was conducted using the PubMed database, applying MeSH descriptors combined with Boolean operators. Filters for free full text, a five-year time frame, and inclusion criteria related to topic relevance, language, and scope were applied. A total of 14 studies composed the final corpus. Results: The studies indicate that genetic sequencing increases the identification of pathogenic variants associated with breast cancer, including mutations in BRCA1, BRCA2, TP53, CHEK2, and ATM. Multigene panels and polygenic risk scores demonstrated the ability to stratify individual risk, enabling personalized screening—initiating earlier in high-risk women and postponing in women with lower risk. The literature also suggests that this approach may be cost-effective, improving diagnostic precision without increasing overall healthcare expenditures. In the Brazilian context, the presence of specific mutations such as TP53 R337H stands out, reinforcing the need for strategies adapted to the country's genetic profile. Final Considerations: Genetic sequencing represents a promising innovation in breast cancer screening, contributing to personalized prevention and the potential reduction of mortality.