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October is Breast Cancer Awareness Month
The Republic of Kazakhstan has seen an annual increase in the number of cancer patients. According to data for 2024, the incidence rate increased by almost 6%. By the end of the year, more than 230,000 cancer patients were under dynamic observation, which is 5.9% higher than in 2023. The most common form remains breast cancer, with 5,652 new cases recorded.
The role of the BRCA1 and BRCA2 genes
The BRCA1 and BRCA2 genes are a kind of "guard" for the genome. They are involved in repairing DNA damage and ensuring cell stability.
If these genes contain pathogenic mutations, the ability of cells to "self-repair" is impaired, which greatly increases the risk of developing breast and ovarian cancer, especially in young women and those with a family history of the disease.
Knowing your BRCA status has diagnostic, preventive, and therapeutic significance.
The test result may influence:
- the choice of monitoring regimen and screening frequency;
- the decision on preventive measures;
- treatment tactics, including the possibility of prescribing targeted drugs (e.g., PARP inhibitors) that increase the effectiveness of therapy.
According to statistics, pathogenic variants of BRCA1/2 are detected in less than 5% of all patients with breast cancer, but account for up to 20% of hereditary cases. Therefore, mutation testing is especially important in cases of family predisposition.
Why early diagnosis matters:
Analysis of national data shows that despite an increase in incidence, mortality rates are declining. This is due to the expansion of screening programs and improved access to genetic testing. Every case detected at an early stage is a chance for successful treatment and full recovery.
The following are used for diagnostics:
"Risk of developing breast and ovarian cancer (detection of BRCA1(4) and BRCA2(4) gene mutations by PCR)" (PCR method)
What is tested:
Rapid PCR screening for the most common BRCA1/2 mutation variants (so-called "background" mutations).
Who it is suitable for:
- If a specific mutation has already been identified in the family - to test close relatives;
- When a quick result is needed.
Important to know:
The test covers a limited set of mutations, so if the result is negative and clinical signs are present, full sequencing (NGS method) is recommended.
"Predisposition to breast/ovarian cancer (BRCA1 and BRCA2 genes, NGS method)"
What is tested:
Complete sequencing of BRCA1 and BRCA2 genes (search for point mutations, small insertions, and deletions).
Recommended for:
- Women with early onset of the disease (<50-65 years old);
- All patients with newly diagnosed breast cancer under the age of 65;
- Patients considering preventive surgery or PARP inhibitor therapy.
Advantages:
- Maximum information value;
- Suitable for therapy selection and family screening;
- Minimum number of omissions and false negatives.
When to get tested
- Prevention: If close relatives (mother, sister, daughter) have been diagnosed with breast or ovarian cancer, a full NGS test is recommended. If a specific mutation is known in the family, a targeted PCR test is sufficient.
- At initial diagnosis: All patients with newly diagnosed breast cancer under the age of 65 are recommended to undergo BRCA testing, as the result influences the choice of treatment strategy. NGS is optimal.
- During treatment: When planning targeted therapy (PARP inhibitors), complete data on BRCA status is required. PCR can be used as a rapid test, but a positive result requires confirmation by NGS.
- After treatment (for the family): If a mutation is found in a patient, her relatives undergo PCR analysis for the same variant. If the family mutation is unknown, NGS is prescribed.
Why you need to act today
Thanks to the expansion of screening and the development of genetic diagnostics, the proportion of early-stage breast cancer detected in Kazakhstan is growing. This means more lives saved and fewer severe forms of the disease.
Knowing your BRCA status is a step towards personalized medicine, where prevention and treatment are tailored to the individual. The sooner you learn about your risk, the more opportunities you have to preserve your health and life.
October is the time to take care of yourself.
Check your BRCA status and give yourself confidence in tomorrow.