Mutación en los genes BrCa1 y BrCa2 y su relacion con el cáncer mamario.

Breast cancer resulting from a genetic alteration, specifically in the BRCA1 and BRCA2 genes, is often associated with the highly aggressive triple-negative breast cancer and presents high rates of morbidity and mortality. Crucially, when a mutation is present, these genes fail to perform their functional role, increasing the lifetime risk of developing this disease by up to 70%. Therefore, early detection is essential to providing effective therapeutic options. Given the public health relevance of this topic, the objective of this study was to investigate mutations in BRCA1 and BRCA2 and their relationship with cancer development. The research employed a qualitative approach and a non-experimental, cross-sectional documentary design, conducted through a review of scientific articles. The initial study population consisted of 60 documents compiled from scientific databases such as PubMed and Science Direct. After applying selection criteria, the final sample comprised 20 documents. The results showed that BRCA1 and BRCA2 play important roles in DNA repair and cell cycle regulation, and a mutation in either gene can trigger breast cancer. It is important to emphasize that preventive measures are essential for improving patients' quality of life and opportunities. This research may serve as an informational resource, benefiting affected individuals and their families.

• Main Author: Quilligana Urrutia, Lorena Estefanía (author)
• Format: bachelorThesis
• Language: spa
• Published: 2025
• Subjects: Mutaciones; Cáncer de mama; BRCA1; BRCA2; Prevención
• Online Access: http://dspace.unach.edu.ec/handle/51000/16207