Has your mother, aunt, sister, or close family member ever had breast cancer? When that happens, it's normal to feel a lot of fear and anxiety, wondering, "Will I get it too?" Often, these types of cancers can be linked to a hereditary risk. Today, we're going to talk about a special test that looks for that hereditary risk. That's the BRCA gene test.
Simply put, what is this BRCA test?
Okay, let's put it this way. We all have two types of genes in our bodies called BRCA1 and BRCA2 . Their main function is to repair the DNA of our body's cells and stop cancer cells from growing out of control. It's like the body's own guards. That's why we also call these tumor suppressor genes.
Now imagine, what happens if there is a defect, or a mutation, in these protective genes? Then the process that stops the growth of cancer cells is weakened. This significantly increases the risk of breast cancer, ovarian cancer , and several other types of cancer.
The important thing is that these BRCA gene mutations are hereditary . That means they can be passed on from mother to child. The BRCA test takes a sample of your blood and checks to see if you have a risk mutation in the BRCA1 or BRCA2 genes.
Should everyone get this BRCA test?
No, not at all. These BRCA gene defects are not very common in society. Therefore, doctors do not recommend this test unless you have certain risk factors. This is not a test that is just for curiosity.
So, what kind of people would a doctor recommend this test for? Let's see.
| Risk factor | A simple explanation |
|---|---|
| Personal cancer history | If you have had breast cancer yourself, especially if it was before the age of 50. Or if you have had both breast and ovarian cancer. |
| Family cancer history | If one or more members of your family (such as your mother, sister, daughter, aunt) have had breast cancer, especially if a man has had breast cancer, that is also a strong factor. |
| An already identified BRCA defect | If someone in your family has already been confirmed to have a BRCA gene defect. |
| Other types of cancer | If someone in your family has had cancer such as ovarian cancer, pancreatic cancer, or prostate cancer. |
| Rare hereditary diseases | If anyone in your family has other hereditary conditions that increase the risk of cancer, such as Cowden syndrome or Li-Fraumeni syndrome. |
The most important thing is that you should not decide on your own whether or not to have this test. It is best to discuss this with your doctor and make a decision based on his or her advice.
What can we learn from a BRCA test?
If this test confirms that you have a BRCA gene defect, it means that you have a higher than normal risk of developing certain types of cancer.
Consider this: A person with a BRCA gene mutation has a six-fold increased risk of developing breast cancer by the age of 80 compared to the general population. The cancer is also more likely to occur at a younger age and to affect both breasts.
In addition to breast cancer, this genetic defect may increase the risk of several other types of cancer:
- Ovarian cancer : Also related to it are fallopian tube cancer and peritoneal cancer.
- Prostate cancer : For men.
- Pancreatic cancer
- Fanconi anemia : A rare cancer that can occur in childhood.
What happens before, during and after the test?
This process is not as complicated as you might think.
Before the test
You will usually be referred to a genetic counselor . These are people who have expertise in genes, heredity, and cancer risk. He or she will explain the following to you:
- What does it mean if the test result is `Positive` or `Negative`?
- How does the result affect your cancer risk?
- How will this result affect the rest of your family (children, siblings)?
During the test
It's very simple. It just takes a blood sample from a vein in your arm. Just like giving blood for a regular blood test. Although you may feel a little pain when the needle is inserted, the entire process takes less than five minutes.
After the test
It may take several weeks for the results to come back. After the results come back, you should meet with your genetic counselor again. He or she will help you understand the results and discuss what steps you need to take next.
What do the results mean?
There are three types of results that can occur. Let's talk about them clearly one by one.
| Result type | What does that mean? |
|---|---|
| 1. The result is positive. | |
| Meaning | This means that you have a mutation in your BRCA1 or BRCA2 gene that increases your risk of cancer. However, this does not mean that you have cancer or that you will definitely develop it. It just means that your risk is higher. |
| What to do next? | Now you can take steps to reduce your risk. After discussing this with your doctor, you can consider things like:
|
| 2. The result is negative. | |
| Meaning | It means that you do not have a BRCA gene defect in your body. That means that your children will not inherit a BRCA gene defect from you. |
| But... | This does not guarantee that you will never get cancer. It simply means that your risk is similar to that of someone in the general population. However, if you have a strong family history of cancer, you may have a different gene mutation that increases your risk of cancer. Talk to your genetic counselor about this. |
| 3. The result is uncertain (Uncertain / VUS) | |
| Meaning | This is a bit complicated. This means that there is a change (`variant`) in your BRCA gene, but scientists are not yet sure whether the change is harmful, increasing the risk of cancer, or a normal, harmless change. This is called a `Variant of Unknown Significance (VUS).` |
| What to do next? | Don't panic at this point. Your genetic counselor will explain this to you further. You may need to have other family members tested or be notified in the future if new information becomes available. For now, this type of result is usually considered a negative result. |
Take-Home Message
- The BRCA test is a special genetic test that looks for hereditary risk for breast, ovarian, and several other types of cancer.
- This is not a test that everyone should have. Doctors only recommend it for people with certain risk factors, such as a family history of cancer.
- A positive result does not mean you have cancer. It means that your risk is higher and you can take steps to manage that risk.
- It is very important to discuss this with a doctor and a genetic counselor before and after receiving the results.
- Knowledge is power. Being aware of your risks is an important step in protecting your and your family's future health.
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