Home page
All Posts
Articles
BRCA1 and BRCA2: Who Should Consider Genetic Testing and What Do the Results Tell Us?

BRCA1 and BRCA2: Who Should Consider Genetic Testing and What Do the Results Tell Us?

5 October 2026
13

Evaluare

Informational article for patients Author - Chelban Doina - Mammologist-oncologist

In recent years, we have been hearing more and more about BRCA1 and BRCA2 genetic testing, particularly in the context of breast and ovarian cancer prevention. But what exactly are these genes? Does having a BRCA mutation mean that a person will develop cancer? And should all women undergo this test?

Genetic testing can provide very important information, but its value goes beyond simply having a laboratory test performed. It is important to understand who should consider testing, how the results should be interpreted, and what can be done with this information afterwards.

What Are BRCA1 and BRCA2?

BRCA1 and BRCA2 are genes that everyone has, both women and men. They are involved in repairing damaged DNA and therefore help protect cells from becoming cancerous.

Sometimes, one of these genes carries a pathogenic genetic variant that can be inherited from either parent. When this happens, the body's natural DNA repair mechanisms may not function as effectively, increasing the risk of developing certain types of cancer.

Importantly, having a BRCA1 or BRCA2 mutation does not mean that a person has cancer, nor does it mean that they will definitely develop it. It means that they have a genetic predisposition and a significantly higher risk compared with the general population.

For breast cancer, the NCI estimates that more than 60% of women who inherit a pathogenic BRCA1 or BRCA2 variant will develop breast cancer during their lifetime, compared with approximately 13% of women in the general population. The risk of ovarian cancer is also increased: approximately 39–58% for BRCA1 and 13–29% for BRCA2.

Genetic information should therefore not be viewed as a diagnosis, but rather as an opportunity to identify women at increased risk early and to tailor surveillance and risk-reduction strategies accordingly.

Who Should Consider BRCA1/BRCA2 Genetic Testing?

A common question is: “Should all women have BRCA testing?”

Not necessarily. Genetic testing is primarily recommended for people whose personal or family history suggests a higher likelihood of an inherited cancer predisposition.

For a person who has not been diagnosed with cancer, testing may be appropriate when:

a BRCA1 or BRCA2 mutation has already been identified in the family;
there is a family history of breast cancer diagnosed at a young age;
there have been multiple cases of breast and/or ovarian cancer in the family;
there is a family history of ovarian cancer;
a male relative has been diagnosed with breast cancer;
there are certain cases of pancreatic cancer or metastatic or high-risk prostate cancer in the family;
family history or population ancestry suggests a higher likelihood of carrying an inherited mutation.

However, genetic testing is not important only for healthy women with a family history of cancer.

For patients who have already been diagnosed with breast cancer, current indications for testing are broader. According to the ASCO–Society of Surgical Oncology recommendations, BRCA1/BRCA2 testing should be offered to all patients newly diagnosed with breast cancer at age 65 or younger. For patients over the age of 65, testing is considered based on the characteristics of the disease, personal and family history, and the potential impact of the result on treatment decisions.

Why is this important to know?

For a healthy person, identifying a mutation may change the approach to surveillance and prevention. For a patient who already has cancer, the test result may have additional implications: it may influence certain treatment decisions, help assess the risk of a second cancer, and provide important information for family members.

BRCA testing is therefore about more than simply asking, “Do I have a risk of cancer or not?” It provides genetic information that needs to be considered in the context of each individual and may have implications for both the patient and their family.

How Is Testing Performed and Why Is Genetic Counseling Important?

BRCA1/BRCA2 testing is a genetic test that looks for changes in these genes that may be associated with an inherited predisposition to certain types of cancer.

When testing for an inherited predisposition, the analysis can be performed using a blood or saliva sample. For the BRCA1/BRCA2 test available at InVitro Diagnostics, a venous blood sample is collected and subsequently analyzed in the laboratory using molecular genetic methods to identify the mutations being investigated. No special preparation is required before sample collection.

Sample collection itself is therefore the simple part. What matters more is understanding why the test is being performed and how the result will be interpreted.

Before testing, an assessment of personal and family history is recommended. A physician or genetics specialist can review the types of cancer that have occurred in the family, the ages at which they were diagnosed, and the degree of biological relationship, and can determine whether testing is appropriate and which type of genetic test would be most suitable.

Genetic counseling is also important so that the patient understands in advance what information the test can — and cannot — provide.

A genetic test result is not always simply “positive” or “negative.” Sometimes a genetic variant is identified whose significance for cancer risk is not yet sufficiently understood. This is why the result should be interpreted in the context of personal and family history together with a specialist.

There is another important consideration: the result of a genetic test may provide information not only about the person being tested, but also about their biological relatives.

For this reason, BRCA1/BRCA2 testing should not be viewed merely as a laboratory test, but as part of a medical assessment that begins with asking the right question and continues with the correct interpretation of the result.

How Should BRCA1/BRCA2 Test Results Be Interpreted?

A genetic test result should not be viewed simply as “positive” or “negative.” Each type of result has a different meaning and should be interpreted in the context of personal and family history.

Positive Result

A positive result means that a pathogenic or likely pathogenic variant has been identified in BRCA1 or BRCA2.

This does not mean that the person has cancer, nor does it mean that they will definitely develop the disease. It indicates a genetic predisposition and an increased risk of certain types of cancer, which may require an individualized surveillance and risk-reduction strategy.

For a patient who has already been diagnosed with cancer, identifying such a variant may also have implications for certain treatment decisions.

Negative Result

A negative result means that the test did not identify the BRCA1/BRCA2 pathogenic variants being investigated.

However, “negative” does not automatically mean “no risk of cancer.”

If a specific BRCA mutation has already been identified in the family and the person tested has not inherited it, the result is much more straightforward. However, if there is no known familial mutation, a negative result does not rule out other genetic causes or other factors that may influence cancer risk.

Screening recommendations should therefore not be discontinued solely because the BRCA test result is negative.

Variant of Uncertain Significance (VUS)

Sometimes testing identifies a genetic variant for which there is currently insufficient evidence to determine whether or not it is associated with an increased risk of cancer. This is known as a variant of uncertain significance, or VUS.

A VUS should not be considered equivalent to a pathogenic variant and, in general, should not by itself form the basis for major medical decisions. As new evidence becomes available over time, such a variant may be reclassified.

Genetic test results therefore become truly valuable when they are interpreted correctly. We do not treat a laboratory result in isolation; instead, genetic information is considered alongside personal and family history and other medical information to determine the most appropriate approach for each patient.

What Happens If a BRCA Mutation Is Identified?

Identifying a pathogenic BRCA1 or BRCA2 variant does not mean that there is one single approach that applies to every woman. The next steps are determined individually based on age, personal and family history, whether or not cancer has already been diagnosed, and the patient's preferences.

For a healthy woman, the result may lead to closer breast surveillance beginning at a younger age and, depending on specialist recommendations, may include breast MRI and mammography. In certain situations, risk-reducing measures may also be discussed, including medication or preventive surgery.

With regard to ovarian cancer risk, it is important to know that there is currently no screening method that has demonstrated effectiveness comparable to breast cancer screening for the early detection of ovarian cancer in BRCA carriers. For this reason, risk-reducing surgery may be discussed for some women with an increased genetic risk, at an appropriate time and following an individualized assessment.

For a patient who has already been diagnosed with breast cancer, BRCA status may influence certain treatment and surgical decisions. In some situations, the presence of a BRCA variant may also be relevant when considering targeted therapies, such as PARP inhibitors.

The result also has implications for the family. An inherited pathogenic variant can be passed on to both female and male family members, which is why biological relatives may benefit from genetic counseling and, when appropriate, genetic testing.

Importantly, a positive result does not automatically mean that a particular intervention is required. Instead, it opens a discussion about the available options, with decisions made on an individual basis together with the healthcare team.

The Key Message — Genetic Information Gives Us an Opportunity to Act

BRCA1/BRCA2 genetic testing is neither a cancer diagnosis nor a certain prediction of the future. It is a tool that can help us better understand individual risk and, when testing is indicated, make medical decisions that are better tailored to each person.

Identifying a genetic predisposition may allow closer surveillance to begin earlier, support a personalized risk-reduction strategy and, for patients who have already been diagnosed with cancer, may have implications for treatment decisions.

At the same time, a negative BRCA result does not replace breast cancer screening recommended according to age and individual risk. Most breast cancers are not caused by inherited BRCA1/BRCA2 variants, and preventive screening remains important regardless of the test result.

Perhaps the most important message is this: the purpose of genetic testing is not to create fear, but to turn information about risk into an opportunity for prevention, surveillance, and informed medical decision-making.

Medical References: