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BRCA1 and BRCA2: What you need to know about genes linked to cancer risk
What are BRCA1 and BRCA2?
BRCA1 and BRCA2 — are genes that are responsible for repairing damaged DNA in cells. They act as so-called “tumor suppressors,” meaning they prevent uncontrolled cell growth. But if there is a mutation in these genes, the DNA repair process is disrupted — and the likelihood of developing malignant tumors increases, primarily breast and ovarian cancer.
What is the connection between BRCA mutations and cancer?
According to National Cancer Institute, women with BRCA1 or BRCA2 mutations have a lifetime risk of developing breast cancer of up to 72 % and ovarian cancer of up to 44 %. Men with these mutations also have an increased risk of prostate and breast cancer.
These mutations can be hereditary — that is, passed down from a father or mother even in the absence of symptoms in the parents themselves.
When to get tested for BRCA
If there is a family history of breast cancer, especially before the age of 50
If relatives on the father's side were sick (men can also transmit the mutation)
In case of a diagnosis of “triple-negative breast cancer”
If ovarian cancer is found in the family
If there is a hereditary mutation in the family
On the recommendation of a geneticist or oncologist
The test can be done using a simple blood test or a swab from the lining of the mouth. The sample is sent to a laboratory for DNA analysis for known BRCA mutations.
What do BRCA test results mean?
| Result | What does this mean |
|---|---|
| Positive | Mutation detected. Increased risk of cancer |
| Negative | No mutations found. Risk is reduced, but not zero |
| Variant of unknown significance (VUS) | A change has been identified, the role of which has not yet been determined. |
The presence of a mutation does not mean that cancer will necessarily develop. But it is a signal for regular monitoring and discussion of preventive strategies with a doctor.
What measures can be taken with a BRCA mutation?
Regular check-up: mammography, MRI, ultrasound
Drug prophylaxis: tamoxifen or other risk-reducing agents
Preventive surgeries: mastectomy (removal of the breast), oophorectomy (removal of the ovaries)
Healthy lifestyle: weight control, alcohol restriction, physical activity
Genetic counseling: for you and your relatives
It is known that actress Angelina Jolie underwent a preventive mastectomy after being diagnosed with the BRCA1 mutation, thereby initiating a wide discussion about the importance of this test in medical prevention.
Genetic testing for BRCA1 and BRCA2 is an early warning tool that allows you to identify risks in time and maintain your health. Knowing your genetics is not a sentence, but an opportunity to act proactively.
