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BRCA1 mutations increase the aggressiveness and severity of breast cancer
Employees of OLYMP CDL, QazGene, and GeneNote, together with colleagues from Astana Medical University and “Hospital of the Medical Center of the Presidential Administration of the Republic of Kazakhstan” RSE published an examination dedicated to the assessment of the clinical, morphological, and molecular characteristics of BRCA1-associated breast cancer (BC) in Kazakhstani patients. The analysis included 86 women with invasive BC who were treated in Astana in 2023-2024. Molecular genetic testing was performed using NGS in the QazGene laboratory and revealed pathogenic hereditary mutations of the BRCA1 gene in 12 patients. The examination assessed the impact of pathogenic hereditary mutations in the BRCA1 gene on the severity of the disease and its clinical and morphological features. In mutation carriers, the average age of diagnosis was 44 years (6 years younger than in BRCA1-negative patients), with more frequent stage III-IV disease, metastases (41.7% vs. 5.4% in BRCA1-negative patients), and a high degree of malignancy (G3). The tumors were characterized by low hormone receptor expression and the absence of HER2 amplification, which is typical for the triple-negative phenotype of breast cancer. All these features lead to a more severe and aggressive course of the disease in patients who are carriers of hereditary pathogenic mutations in the BRCA1 gene. The results confirm that BRCA1-associated breast cancer is characterized by early onset, aggressive course, low differentiation, and limited options for targeted therapy. The identified features emphasize the need for personalized approaches to diagnosis and treatment, including expanded genetic screening among high-risk groups and the use of PARP inhibitors and platinum drugs for the treatment of BRCA1-associated breast cancer. The authors note that the characteristics of BRCA1-associated breast cancer in patients from Kazakhstan identified in the examination provide a basis for refining and updating national clinical guidelines.
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