New research on BRCA1-associated breast cancer in Kazakhstani patients

Researchers from OLYMP CDL, QazGene, and GeneNote, together with colleagues from Astana Medical University and the Hospital of the Medical Center of the Administration of the President of the Republic of Kazakhstan, have published scientific research devoted to the clinical, morphological, and molecular characteristics of BRCA1-associated breast cancer in Kazakhstani women.

The research includes 86 female patients with invasive breast cancer who have been treated in Astana during 2023-2024.

Molecular genetic testing using the NGS method, conducted at the QazGene laboratory, has revealed pathogenic hereditary BRCA1 mutations in 12 women.

In patients carrying the mutation:

The average age at diagnosis was 44 years, which is six years younger than in BRCA1-negative patients;
Stage III–IV disease, metastases (83%), and high-grade malignancy (G3) were observed more frequently;
Tumors exhibited a triple-negative phenotype, characterized by low ER and PR expression and absence of HER2 amplification).

All these features indicate a more aggressive course of the disease and highlight the need for personalized approaches to diagnosis and treatment.

The study results emphasize the importance of expanding genetic screening among high-risk groups and the use of PARP inhibitors and platinum-based drugs in the treatment of BRCA1-associated breast cancer.

This work lays the foundation for further development of national clinical guidelines on cancer genetics and personalized cancer therapy in Kazakhstan.