Breast cancer represents a major challenge in oncogynecology and oncogenetics, with its high prevalence and often delayed diagnosis complicating its treatment. Genetic markers, such as the breast cancer 1 susceptibility gene (BRCA1), breast cancer 2 susceptibility gene (BRCA2), and p53 genes, play a crucial role in breast cancer risk assessment, particularly in high-risk populations such as those in the Krasnoyarsk Territory. These genes are involved in DNA repair and tumor suppression, and their polymorphisms can explain up to 1%–1.5% of new cases of breast cancer. Recent studies highlight the importance of nontraditional genetic markers and their association with an increased risk of breast cancer. Mutations in the BRCA1 and BRCA2 genes are particularly associated with a high risk of hereditary breast cancer, with a cumulative penetrance of 72% for BRCA1 and 69% for BRCA2 at the age of 80. The p53 gene acts as a tumor suppressor by regulating the cell cycle and inducing apoptosis in response to genomic stress. However, mutations in p53 can result in a loss of function and, in some cases, confer a gain of oncogenic function, contributing to tumor progression. The use of statistical resources and predictive models, such as neural networks, makes it possible to assess individual risks of developing breast cancer according to genetic polymorphisms and levels of DNA repair. These personalized approaches aim to improve targeted prevention and reduce the incidence of breast cancer in high-risk groups. In conclusion, although hereditary breast cancer predisposition syndromes linked to the BRCA1, BRCA2, and p53 genes are well documented, a significant proportion of cases remain without a clear molecular diagnosis. Advances in genomics and next-generation sequencing offer promising prospects for a better understanding of molecular mechanisms and the development of more effective prevention and treatment strategies.
Elsevier, Cancer Biomarkers and Oncoviruses, 2026, Pages 15-27
