| Abstract [eng] |
Aim: To analyze literature sources, present available data, and provide recommendations about BRCA 1/2 gene mutations, their impact on the development of breast and ovarian cancer, diagnostics, treatment, and monitoring. Objectives: 1. Examine the impact of genetic mutations on the onset of breast and ovarian cancers. 2. Discuss how the identification of BRCA gene mutations changes the recommendations for the diagnosis, treatment, and monitoring of breast and ovarian cancer. 3. Analyze the indications for genetic counseling for patients and the recommendations of genetic doctors, and their impact on the healthcare of the patient and their family members. 4. Examine recommendations for reducing the risk of developing breast and ovarian cancer. Methods: Review of scientific literature and recent studies on BRCA1/2 gene mutations and their association with breast and ovarian cancer risk. Analysis of the data collected to determine the association between genetic mutations and disease development, diagnosis and treatment outcomes. Results: The literature review revealed that BRCA1 and BRCA2 gene mutations significantly increase the risk of developing breast and ovarian cancer, up to 72% for breast cancer and 40% for ovarian cancer. These mutations cause DNA breaks that lead to the development of more aggressive cancer types, such as triple-negative breast cancer. Early diagnosis of BRCA gene mutations, personalized surveillance, and preventive measures, particularly mastectomy and salpingo-oophorectomy, significantly improve prognosis and reduce mortality. In addition, chemoprevention and lifestyle changes are recommended, and more frequent and sensitive imaging tests, such as MRI or transvaginal ultrasound, are used to monitor patients. The most effective treatment for patients with BRCA mutations includes surgery, platinum-based chemotherapy, and PARP inhibitors. Identifying BRCA mutations substantially contribute to early diagnosis, effective treatment, and improved quality of life for patients. Conclusions: 1. Inheriting pathological gene mutations increases the risk of developing breast and ovarian cancer. In the presence of a BRCA1/2 gene mutation, the risk of developing breast cancer by the age of 80 increases to 72%, and the risk of ovarian cancer rises to 40%. 2. The identification of BRCA mutations allows for the recognition of high-risk individuals and the personalization of surveillance plans, which include more frequent imaging diagnostics and targeted therapy measures. 3. Considering family history, the patient's age, and tumor characteristics, genetic testing is recommended. The results of this testing influence the monitoring, prevention, diagnosis, and treatment plan. 4. Regular, more frequent screening, prophylactic surgery, medical prevention and a healthy lifestyle are important for risk reduction and early diagnosis. |
