PHÁT HIỆN CÁC ĐỘT BIẾN GÂY BỆNH TRÊN GENE BRCA1/2 Ở BỆNH NHÂN UNG THƯ VÚ VIỆT NAM BẰNG GIẢI TRÌNH TỰ THẾ HỆ MỚI (NGS): BÁO CÁO CA LÂM SÀNG

Abstract

Objectives: To identify clinically significant variants in the BRCA1 and BRCA2 genes in breast cancer patients using next-generation sequencing (NGS). Methods: The study was conducted on 4 patients whose total DNA was extracted from peripheral blood at the Department of Pathological Anatomy and Forensic Medicine, Military Hospital 103, from March to October 2025. DNA libraries were prepared using the BRCAaccuTest™ PLUS kit(NGeneBio, Korea). Variants in the BRCA1 and BRCA2 genes were detected through NGS on the MiSeqDx system and analyzed using NgeneAnalysis, IGV software. Results: 3 loss-of-function variants were detected in 4 patients, including 1 nonsense mutation (p.Arg1751Ter) and 2 frameshift mutations (p.Glu23ArgfsTer18 and p.Glu1493ValfsTer10). Notably, the p.Glu1493ValfsTer10 variant, a pathogenic germline mutation of high clinical relevance, was identified in two patients with a mother-child relationship. According to the ACMG/AMP (2015) guidelines and reputable databases such as ClinVar and BIC, all three mutations are classified as pathogenic. Conclusion: Pathogenic BRCA1/2 mutations were identified in 3 out of 4 breast cancer patients using NGS. These findings highlight the utility of NGS in detecting hereditary mutations and its clinical relevance for genetic counselling and personalized treatment strategies.