Tecnologías de secuenciación de nueva generación en el diagnóstico temprano de cáncer de mama hereditario. Revisión sistemática según las directrices PRISMA

Abstract

Introduction: breast cancer is the most common among women globally, with 5-10% being hereditary and primarily caused by BCR1/2 mutations (Breast Cancer Gene1/2). Variants and mutations in other genes predispose to this cancer and can be detected through Next-Generation Sequencing (NGS) technologies (1,3). This Systematic Review aims to determine the benefits of NGS compared to traditional genetic tests. Objective: to synthesize available scientific evidence on Next-Generation Sequencing technologies in the early diagnosis of hereditary breast cancer, applying the PRISMA 2020 methodology. Method: an observational retrospective study of Systematic Literature Review using digital databases: Scopus, PubMed, Science Direct, BVS, and Scielo for information retrieval. The data collection tool is the Ad Hoc-created data extraction matrix in Excel 2016. Quality and risk of bias were evaluated using the Sackett and Robis scales, respectively. Results: 9 articles analyzed suggest that NGS techniques enable the detection of pathogenic mutations different from BRCA1/2 genes and the identification of variants of uncertain significance (VUS). The importance of applying multigene panels in patients with family history and negative results for traditional tests is emphasized. Conclusions: NGS allows the detection of VUS and genetic mutations different from BRCA1/2 in women with hereditary breast cancer. Multigene tests are replacing traditional sequencing methods.