Genetics. PCR. BRCA1, BRCA2 (Determination of genetic polymorphisms associated with breast cancer risk)

Breast cancer remains one of the most common malignant pathologies among women worldwide. In some women, this disease develops at a hereditary level due to genetic mutations, especially in the BRCA1 and BRCA2 genes. In this text, we will consider the oncogenetic aspect of these genes and their relationship to breast cancer, as well as the importance of tumor marker diagnostics in the detection and control of this disease.

BRCA1 and BRCA2: Genes and Breast Cancer

BRCA1 (Breast Cancer Susceptibility Gene 1) and BRCA2 (Breast Cancer Susceptibility Gene 2) are genes that encode proteins known as DNA repair proteins. The main function of these genes is to repair DNA damage that occurs due to damage from various factors. Mutations in these genes can lead to impaired DNA repair and, therefore, an increased risk of cancer.

When healthy genes BRCA1 and BRCA2 function properly, they can prevent cancer by repairing damaged DNA. However, mutations that disrupt the function of these genes can lead to the accumulation of genetic damage and the development of breast cancer.

Genetic Polymorphisms and Breast Cancer Risk

Scientists have found that in addition to the obvious mutations in the BRCA1 and BRCA2 genes, genetic polymorphisms, or changes in DNA sequence, can also influence the risk of developing breast cancer. Some of these polymorphisms may increase susceptibility to the disease, while others may reduce this risk.

For example, some genetic variants are associated with reduced efficiency of the BRCA1 and BRCA2 proteins in DNA repair. This may create conditions for the accumulation of mutations and, consequently, an increased risk of breast cancer.

Tumor Marker Diagnostics

Breast cancer screening, including genetic testing for BRCA1 and BRCA2, is an important step in the early detection and treatment of this disease. Genetic testing helps identify the presence of inherited mutations in these genes, which may indicate an increased risk of developing cancer not only in women but also in men.

In addition, tumor marker diagnostics play an important role in the detection and monitoring of breast cancer. Tumor markers are substances that are secreted by a tumor or the body in response to the presence of malignant cells. These include markers such as CA 15-3, CA 27-29, and others.

Tumor marker diagnostics helps to determine the presence of a tumor, establish its size and growth dynamics, and also serves as a tool for assessing the effectiveness of treatment and detecting recurrence.

Conclusion

Oncogenetics of BRCA1 and BRCA2 plays a key role in understanding the hereditary risk of breast cancer. Genetic polymorphisms can increase or decrease this risk. Tumor marker diagnostics are an important tool in the detection, monitoring and treatment of this disease. For women with a family history of breast cancer or suspected hereditary mutations in the BRCA1 and BRCA2 genes, genetic analysis and tumor marker diagnostics can be crucial for the prevention and early detection of this serious disease.