Genetic Testing (BRCA)
What is genetic testing?
Genetic testing is a procedure that analyzes our DNA to detect mutations or changes in specific genes that may be associated with an increased risk of developing a particular disease. In other words, it allows us to “read” our genetic material and identify risk factors early on—often before any symptoms appear.
A tool for prevention and information.
The results help the doctor and the patient make informed decisions regarding health monitoring, prevention, or timely treatment.
In the field of gynecology, genetic testing is primarily used to detect a hereditary predisposition to breast and ovarian cancer (BRCA1 & BRCA2) as well as for preconception screening of couples planning a pregnancy.
Comprehensive Genetic Testing
Comprehensive genetic testing involves the analysis of multiple genes and is used when a more extensive evaluation of genetic risk factors is required, particularly in individuals with a strong family history.
How and Where Genetic Testing Is Performed
Genetic testing is a simple and painless procedure. The sample required for DNA analysis is usually obtained in one of the following ways:
Blood test
The most common method. A simple blood sample is drawn from a peripheral vein, just as in any routine blood test.
Mucosal swab
In some cases, the sample is collected using a special swab from the oral mucosa, a completely painless procedure that takes just a few seconds.
The sample is then sent to a specialized genetic laboratory where the DNA is analyzed to detect any mutations. Results are usually available in 2 to 4 weeks.
Important: Genetic testing is not performed arbitrarily. It is always preceded by genetic counseling from a specialized physician, who evaluates the family history, explains exactly what the test is looking for, and interprets the results within the proper clinical context.
Genetic testing for breast cancer - BRCA
The BRCA1 and BRCA2 genes are responsible for producing proteins that protect cells from uncontrolled growth. When these genes carry a mutation, their protective function is disrupted and the risk of developing breast or ovarian cancer increases significantly.
It is important to understand that BRCA mutations are hereditary—that is, they are passed down from parent to child and can be found in both women and men.
Which women should be tested:
BRCA testing is particularly recommended for women with a family history of breast or ovarian cancer, those with a first-degree relative with a known BRCA mutation, women diagnosed with breast cancer at a young age (before age 50), and those belonging to population groups with an increased frequency of BRCA mutations.
What the test detects:
The BRCA test screens for mutations in the BRCA1 and BRCA2 genes that have been associated with an increased risk of developing breast, ovarian, pancreatic, and prostate cancer.
It is estimated that carriers of the BRCA1 mutation have a lifetime risk of developing breast cancer of up to 72%, while for BRCA2 the risk reaches 69%.
What does a positive BRCA test result mean?
A positive result on a BRCA1 or BRCA2 test means that a mutation has been detected in one of these two genes. This does not mean that you have cancer or that you will necessarily develop it. It means that your risk of developing it is higher than that of the general population and that you need a personalized monitoring and prevention plan.
Prenatal genetic testing
Prenatal genetic testing is a test intended for couples who are planning a pregnancy and wish to rule out the possibility of passing on hereditary conditions to their child.
It is ideally performed before pregnancy begins, so that the couple has all the necessary information to make informed decisions.
What it detects:
Prenatal genetic testing checks whether the parents are carriers of mutations that could cause serious hereditary conditions in their child. Among the most commonly screened conditions are cystic fibrosis and the ΔF508 gene mutation, thalassemia, sickle cell anemia, spinal muscular atrophy (SMA), and fragile X syndrome.
What it means to be a “carrier”:
A carrier is a person who carries a mutation in a gene without having the disease themselves. However, when both parents are carriers of the same mutation, there is a 25% chance that their child will develop the disease. This screening gives the couple the opportunity to know the risk in advance and choose how they wish to proceed.
Knowing before pregnancy is the best gift you can give your child.
Prenatal genetic testing does not cause anxiety. On the contrary, it provides peace of mind and reassurance to the couple planning their family.
Frequently Asked Questions (FAQ)
Both genes are associated with an increased risk of breast and ovarian cancer, but they differ in terms of risk profile. BRCA1 is associated with a higher risk of ovarian cancer and often with more aggressive forms of breast cancer at a younger age. BRCA2, on the other hand, is also associated with pancreatic and prostate cancer and tends to occur at a slightly older age. In both cases, early detection is crucial.
Genetic testing is recommended when there is a family history of hereditary conditions or cancer, when a couple is planning a pregnancy and wishes to rule out genetic risk factors, and when a first-degree relative has been diagnosed with a BRCA mutation. In any case, the decision is always made in consultation with a physician.
A negative result means that the specific mutation the test was looking for was not detected. This is reassuring, but it does not completely rule out the risk of developing cancer, as there are other risk factors besides genetic ones. Regular preventive screening remains essential.
Genetic testing of the parents can also be performed during pregnancy; however, it is recommended that it be done before conception so that the couple has more time to process the results and make decisions calmly. If the screening is performed during pregnancy and there are concerns about the fetus, prenatal diagnostic testing can be discussed with the doctor.
The cost varies depending on the type and scope of the test. A targeted BRCA test costs differently than a comprehensive genetic test. For detailed information about costs and available options, please contact our clinic.
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