BRCA1 and BRCA2 genes and who should get tested
When there have been cases of breast, ovarian, prostate or pancreatic cancer in the family, a person often has not just curiosity, but anxiety. Can this happen to other family members? Is the risk hereditary? Should I get tested now if nothing hurts? It is in such situations that a doctor may recommend testing for the BRCA1 and BRCA2 genes.
BRCA1 and BRCA2 are genes involved in repairing damaged DNA. If one of these genes has a pathogenic change, cells may be less able to repair damaged genetic material, and the risk of certain types of cancer may increase. The National Cancer Institute explains that inherited harmful changes in BRCA1 or BRCA2 significantly increase the risk of breast and ovarian cancer.
The BRCA1 and BRCA2 test is not a cancer test. It does not show whether a tumor is present now. Its purpose is different: to assess hereditary predisposition and help the doctor choose a safe plan for surveillance, prevention, or additional diagnostics.
What does a change in the BRCA1 and BRCA2 genes mean?
Genetic testing results may use different wording: mutation, pathogenic variant, likely pathogenic variant, or variant of uncertain significance. The most important thing for the patient is not to try to interpret these words on their own, but to discuss the result with a doctor or genetic counselor.
A pathogenic change in BRCA1 or BRCA2 means that a variant has been found in the gene that is associated with an increased risk of certain cancers. The most common are breast and ovarian cancers, but the range of risks is broader. The Mayo Clinic notes that changes in these genes can increase the risk of breast cancer, male breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer.
However, a positive result does not mean that cancer will necessarily occur. It means that the risk may be higher than average. That is why BRCA testing makes sense not by itself, but as part of a medical evaluation together with family history, age, previous illnesses and doctor's recommendations.
A basic explanation of BRCA1 and BRCA2 may be useful for those who want to first understand why these genes are associated with hereditary cancer risk.
Who should get tested for BRCA1 and BRCA2?
BRCA testing is not necessary for everyone. It is most useful when personal or family history suggests a possible hereditary cancer risk. The CDC explains that genetic testing for hereditary breast and ovarian cancer looks for changes in BRCA1 and BRCA2, and in some cases, a broader panel of multiple genes may be used.
You should discuss the examination with your doctor if you personally have had:
- breast cancer, especially at a young age;
- cancer of both breasts;
- ovarian, fallopian tube, or primary peritoneal cancer;
- male breast cancer;
- pancreatic cancer;
- aggressive prostate cancer;
- several different cancer diagnoses throughout life.
BRCA1 and BRCA2 should also be tested or at least discussed with a doctor if there were any family history of:
- breast cancer in a mother, sister, daughter, grandmother, or aunt;
- ovarian cancer in close relatives;
- male breast cancer;
- multiple cases of breast, ovarian, prostate, or pancreatic cancer on one side of the family;
- cancer at a young age;
- a known pathogenic variant of BRCA1 or BRCA2 in a relative.
If possible, it is advisable to test the first person in the family who has already had breast, ovarian, or other BRCA-related cancer. This approach helps to better understand what mutation to look for in other adult relatives.
Why family history is so important
Hereditary risk is not always immediately apparent. Sometimes a family member will simply say that their grandmother had cancer, but they don't remember the exact diagnosis. Details are important to a doctor: what kind of cancer the relative had, at what age it was diagnosed, on which side of the family there were cases, whether they recurred in several generations.
If a family member already has a known BRCA1 or BRCA2 mutation, then relatives are often recommended to be tested for that variant. The CDC notes that if either mother or father has a BRCA mutation, a child has a 50 percent chance of inheriting the same mutation.
Therefore, BRCA testing can be useful not only for one person, but also for their adult relatives. It helps to move from guesswork to a clear plan: who needs closer monitoring, who should consult a mammologist, gynecologist, oncologist, urologist or medical geneticist.
In this context, it is also appropriate to read the material about hereditary cancer, which explains when family history may be a reason for a genetic test.
How does BRCA testing differ from tumor markers?
Patients often confuse genetic testing with tumor markers. These are different types of research.
BRCA1 and BRCA2 assess hereditary predisposition. This result usually does not change throughout life because it involves DNA inherited from parents.
Tumor markers measure certain proteins or substances that can change in different conditions. They are not a universal way to check for cancer and are not a substitute for genetic testing.
For example, if there is a family history of ovarian cancer, your doctor may discuss BRCA testing as part of your hereditary risk assessment. CA 125 test has a different clinical purpose and does not show whether a person has an inherited BRCA1 or BRCA2 mutation.
What can BRCA testing results show?
The result of the examination may be different, and each option has its own meaning.
Positive result
This means that a pathogenic or likely pathogenic change has been found in BRCA1 or BRCA2. This result is not a diagnosis of cancer. It indicates an increased hereditary risk and requires a plan of action.
The doctor may recommend:
- different observation schedule;
- consultation with a specialized specialist;
- additional early detection methods;
- discussion of prevention strategies;
- checking adult relatives, if appropriate.
The WHO notes that a family history of breast cancer is one of the factors that can increase the risk of the disease. For people with confirmed hereditary changes or high risk, a surveillance and prevention plan should be determined together with a doctor.
Negative result
A negative result means that the study did not find the desired change. But its meaning depends on the context.
If a specific BRCA mutation was known in the family and the patient did not have it, this is one interpretation. However, if no one in the family has previously undergone genetic testing, a negative result does not always completely rule out a hereditary predisposition, as the risk may be associated with other genes or factors.
Variant of undefined value
Then the laboratory finds a change for which there is not enough data yet. Such a result should not be taken as confirmation of high risk. It requires a calm explanation from the doctor, an assessment of family history and medical observation without hasty decisions.
How to prepare for the examination
The test itself is usually simple: it can be blood or saliva. The Mayo Clinic notes that the BRCA test can use a blood or saliva sample to look for DNA changes that increase the risk of breast and ovarian cancer.
Preparing for a BRCA test is not so much about food or daily routine, but about the information you need to gather before the consultation.
Before your visit, it is advisable to write down:
- what types of cancer have relatives had;
- at what age was the diagnosis made;
- have there been cases of breast cancer in men;
- whether there have been cases of ovarian, prostate or pancreatic cancer;
- on which side of the family were the diseases;
- whether any of the relatives have undergone genetic testing;
- whether there is already a known BRCA1 or BRCA2 mutation in the family.
If your doctor recommends a broader genetic test than just BRCA1 and BRCA2, it may be because hereditary cancer risk is sometimes associated with more than one gene. In such situations, material about genetic testing, which explains the types of DNA research and their practical significance.
Who should not undergo BRCA testing without consultation?
Sometimes people want to get tested for BRCA1 and BRCA2 just in case, especially after hearing about cancer or a loved one's illness. But genetic testing can have psychological, family, and medical consequences. The results can affect future decisions, anxiety, and fears for children or relatives.
The Mayo Clinic explains that BRCA testing is not usually done for people at average risk of breast or ovarian cancer, and the decision to test is made based on personal and family history.
Examination without consultation may not be the best solution if:
- there is no characteristic oncological history in the family;
- the patient does not understand what a positive or negative result will mean;
- the analysis is submitted only because of anxiety;
- there is no plan for which doctor to contact after receiving the result;
- A person expects the test to tell them for sure whether they will have cancer or not.
BRCA testing is most useful when it answers a specific medical question, such as whether family history may indicate hereditary cancer, whether a different screening plan is needed, or whether adult relatives should be tested.
Men may also need BRCA testing
BRCA1 and BRCA2 are often mistakenly thought of as female genes because they are most often discussed in the context of breast and ovarian cancer. In fact, men can also carry pathogenic variants and pass them on to their children.
For men, BRCA mutations may be associated with an increased risk of breast, prostate, and pancreatic cancer. The Mayo Clinic includes male breast cancer, prostate cancer, and pancreatic cancer among the cancer risks associated with mutations in BRCA1 and BRCA2.
A man should discuss BRCA testing with his doctor if he has a family history of ovarian cancer, early breast cancer, male breast cancer, aggressive prostate cancer, or if a close relative has already been diagnosed with a BRCA mutation.
What to do after receiving the result
After the result, you should not be left alone with it. Even if the answer is positive, this does not mean that you need to panic. It means that information has appeared that can help you act more accurately.
Further steps may include:
- consultation with the doctor who referred you for examination;
- consultation with a medical geneticist;
- regular monitoring plan;
- discussion of early detection methods;
- risk assessment for adult relatives;
- saving the result for future medical consultations.
If the result is negative but the family history remains suspicious, the doctor may still recommend an individualized follow-up plan. A negative BRCA test does not cancel routine preventive examinations, mammograms, ultrasounds, gynecological consultations, or other examinations according to age and indications.
BRCA1 and BRCA2 screening should be seen as a way to better understand hereditary risk, not as a sentence or a guarantee of safety. It is most beneficial when the decision to test is made after assessing the family history, and the result becomes the basis for a clear medical plan for the patient and their family.
Director of Medi Lab Plus LLC, a doctor of the highest category. Has over 45 years of practical experience in medicine and laboratory diagnostics. Founder and head of the laboratory since 2007. More details…