BRCA1/BRCA2 Test (Hereditary Breast and Ovarian Cancer)

Before we talk about the BRCA1 and BRCA2 Test, it’s important to know that there is another test available to detect genetic mutations that may lead to cancer. 

While this test focuses on identifying mutations in the BRCA1 and BRCA2 genes—which are strongly linked to an increased risk of developing breast and ovarian cancer—it’s also important to understand that these genes are not always responsible for the onset of the disease.

Operarme also offers:

BRCA Plus Test: A broader genetic study that analyzes more than 18 genes to detect possible alterations.

Below you’ll find all the details about the BRCA1 and BRCA2 Test.

When we talk about hereditary cancer, we refer to cancers with a genetic component—in other words, cancers influenced by a family history of the disease. In fact, approximately 5% of breast cancer cases and 20% of ovarian cancer cases are hereditary.

Most hereditary breast and ovarian cancers are linked to DNA changes in the BRCA1 and BRCA2 genes. Women who inherit a pathogenic mutation in either of these genes face a significantly higher risk of developing breast or ovarian cancer.

The BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer Test analyzes the genes associated with an increased risk of these types of cancer. If the test is performed on a patient who has already been diagnosed and a pathogenic mutation is found, it can help identify the underlying cause of the cancer.

A genetic mutation means a greater predisposition to developing cancer compared to the general population. However, it’s important to note that having a pathogenic mutation does not mean you will definitely develop breast or ovarian cancer.

The name BRCA comes from the first two letters of breast cancer.

The BRCA1 and BRCA2 genes produce tumor suppressor proteins, which help prevent the formation of malignant tumors in the human body.

When one of these genes is altered, the corresponding protein is not produced correctly, and tumors are no longer suppressed as they should be. This increases the risk of cells developing genetic alterations that may lead to cancer.

Mutations in the BRCA1 and BRCA2 genes are inherited, which means they can increase a person’s predisposition to breast or ovarian cancer.

But what is the actual risk of developing breast or ovarian cancer if you carry one of these mutations?

If you inherit a mutation in either the BRCA1 or BRCA2 gene, your risk of developing breast or ovarian cancer increases significantly. Based on current studies, the estimated lifetime cancer risk is as follows:

• Breast Cancer: About 12% of women in the general population will develop breast cancer at some point in their lives. However, when a BRCA1 or BRCA2 mutation is inherited, the risk is much higher.

72% of women with a BRCA1 mutation and 69% of women with a BRCA2 mutation are expected to develop breast cancer.

• Ovarian Cancer: Approximately 1.3% of women in the general population will develop ovarian cancer during their lifetime. For women who inherit a BRCA mutation, the risk increases to 44% with a BRCA1 mutation and 17% with a BRCA2 mutation.

One of the key reasons to undergo this test is to understand the underlying cause of cancer. If the cancer is linked to a BRCA1 or BRCA2 mutation, it means there is a hereditary risk that may be passed on to children.

There is a 50% chance that a child will inherit the BRCA1 or BRCA2 mutation from a parent who carries it.

Before undergoing the BRCA1 and BRCA2 genetic test for hereditary breast and ovarian cancer, it’s important that you meet certain criteria that may indicate the need for this test—such as being diagnosed with cancer at a young age or having a family history that suggests a possible inherited BRCA1 or BRCA2 mutation.

Mutations in the BRCA1 and BRCA2 genes are strongly associated with an increased risk of breast and ovarian cancer.

Women with a personal or family history of hereditary breast or ovarian cancer should receive medical guidance and consider testing to assess whether there is a genetic predisposition involved.

It’s also important to note that this test does not only assess the risk of breast cancer. In men, BRCA2 mutations can also increase the risk of developing prostate cancer.

Situations that may indicate the need for BRCA1 and BRCA2 Hereditary Cancer testing

The BRCA1 and BRCA2 genetic test may be recommended in the following cases:

• Women with family members diagnosed with breast, ovarian, fallopian tube, or peritoneal cancer
• Women who have been diagnosed with both breast and ovarian cancer
• Women diagnosed with breast cancer before the age of 50
• Women with two relatives diagnosed with breast cancer, at least one diagnosed before age 50 or with bilateral breast cancer
• Families with three or more cases of breast and/or ovarian cancer (including at least one ovarian cancer) among first- and second-degree relatives
• Women with two relatives (first- or second-degree) diagnosed with ovarian cancer
• Women with cancer in both breasts
• Women who have had multiple primary breast cancers
• Cases of male breast cancer
• A male relative with breast cancer and a female relative (first- or second-degree) with breast or ovarian cancer

Having any of these circumstances increases the probability of developing hereditary cancer due to a genetic mutation. However, it’s important to remember that meeting these criteria does not necessarily mean you will develop breast or ovarian cancer.

When a patient already diagnosed with cancer undergoes the BRCA1/BRCA2 test and a pathogenic mutation is identified, it is crucial to expand the study. In these cases, both male and female relatives of the affected person should be tested to determine who may be at risk of developing cancer in the future.

This information is vital, as those identified as carriers may be included in high-risk prevention programs or consider preventive measure— which may range from increased screening and medical treatments to, in some cases, prophylactic surgeries such as a mastectomy.

The BRCA1 and BRCA2 genetic test for hereditary breast and ovarian cancer can be performed at any of our collaborating sample collection centers, without the need for a prior appointment.

We have a network of collaborating centres, such as Megalab Laboratories and Nuuma Laboratories, which together have more than 60 clinical laboratories throughout Spain, where diagnostic tests for clinical analysis and pathological anatomy are carried out. Among these services is the BRCA1 and BRCA2 hereditary cancer test.

Operarme collaborates with both Megalab laboratories and Nuuma Laboratories, so if your medical or family history suggests a possible genetic mutation, and you wish to take the BRCA1 and BRCA2 Hereditary Cancer Test, you can do so through us by clicking the image below.

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The BRCA1 and BRCA2 hereditary cancer test is performed through a simple blood test. This test analyzes the genes responsible for breast and ovarian cancer.

It helps determine the risk of developing cancer not only for the person being tested, but also for their family members.

In some cases, identifying a mutation early on can help prevent cancer from developing in the tested individual or their relatives.

Once a small amount of blood is drawn—usually just a minimal sample—it is placed in a test tube and sent to the lab for analysis.

As mentioned earlier, the blood draw can be done at any of our collaborating laboratories (check the full list above this page), and results are typically available within 30 days of the test date.

No special preparation is needed—you do not need to fast before the test.

However, a consultation with a genetic counselor may be recommended to ensure the test is appropriate for you and to help you understand the impact of the results—both for you and your family.

Genetic counseling becomes increasingly important once you have your test results.

Although the results will be explained in detail within the report, there is always the option of scheduling a genetic counseling consultation, which can be done via phone after the BRCA1 and BRCA2 test:

• The doctor will explain in more detail the medical implications of the result, both for you and for your family.
• If the test result is positive, the doctor will explain the risk of passing the mutation to your children. Additionally, if you have siblings (from the same parents), there is a 50% chance that they may also carry a BRCA1 or BRCA2 mutation.
• Based on the test result, the doctor will provide guidance on the next steps and action protocols.
• If the result is uncertain, genetic counseling will help clarify the different factors that may have influenced this outcome.

Ultimately, this consultation helps the patient understand the process and the significance of the information obtained from the test.

Once you purchase the BRCA1 and BRCA2 (Hereditary Breast and Ovarian Cancer) test, you will receive a voucher by email. After downloading it, you can make an appointment at the sample collection center you selected on the website.

This test is a genetic examination that analyzes genes associated with hereditary or familial breast and ovarian cancer. To perform this medical test, you will need the following:

1. The BRCA1 and BRCA2 hereditary breast and ovarian cancer test is performed using a blood sample.
2. Before taking the test, the following documents are required: Medical referral or prescription and specific consent, including a clinical report, if necessary.
3. Results will be available in 30 business days after the test is conducted at the laboratory.
4. Genetic counseling with the specialist will be essential to assess the implications of the result for you and your family, if needed.

Both the blood draw and the telephone consultation with the genetic counselor are included in the price of the BRCA1 and BRCA2 hereditary breast and ovarian cancer test.

The test results will be available in 3-4 weeks after the test is conducted.

Once the genetic team processes your blood sample, they will explain how to access your results:

1. You will be provided with an access code to enter your private area.
2. From there, you can check the status of your results report.
3. If results are not yet available, the status will show as "pending."
4. Finally, you will be given the contact number of the laboratory where you had the test, should you have any questions while waiting for your results.

So, how will the results be interpreted? Below, you can read about the implications of both possible results for you and your family.

In the case of a positive result, the Hereditary Breast and Ovarian Cancer Test indicates that the person has inherited a mutation in the BRCA1 or BRCA2 genes, which means there is a higher risk of developing breast and ovarian cancer.

However, a positive test result does not mean that the patient will definitely develop cancer, nor does it predict when cancer might develop. In fact, some women who inherit the BRCA1 or BRCA2 mutation never develop breast or ovarian cancer.

Moreover, a positive result from the Hereditary Breast and Ovarian Cancer Test has significant implications for the patient's family members:

• Both men and women who inherit a mutation in the BRCA1 or BRCA2 genes—whether they develop cancer or not—can pass the genetic mutation on to their children.
• Each child has a 50% chance of inheriting the genetic mutation from the affected parent.
• If a person discovers that they have inherited a mutation in the BRCA1 or BRCA2 genes, it means that each of their siblings, from the same parents, also has a 50% chance of inheriting the same genetic alteration.

A negative result means that the person does not carry a mutation in the BRCA1 and BRCA2 genes, so there is no risk of passing the mutation on to their descendants.

Additionally, a negative result also indicates that the person is not a carrier of the mutation responsible for their family's cancer.

A negative result means that the person has the same risk of developing breast and ovarian cancer as any other individual in the general population.

As you know, the BRCA1 and BRCA2 gene test is performed on patients who have a family history or clinical history that justifies the test. Therefore, if the result is negative, it may be harder to understand.

In such cases, if the person being tested has a family history suggesting the possibility of a hereditary genetic mutation, but their result is negative, there is a chance they may carry a mutation in a gene other than BRCA1 and BRCA2.

Uncertain Result in the BRCA1 and BRCA2 Test

Regardless of the type of test, when conducting a genetic analysis, different types of variants may be found. As you’ve read so far, results can be categorized as pathogenic or benign, depending on the type of mutation in the BRCA1 and BRCA2 genes.

However, there is a possibility that the Hereditary Breast and Ovarian Cancer Test detects an uncertain variant of the gene.

When analyzing a gene, we may encounter different types of variants in the results. If there is a variant of uncertain significance, it cannot be classified as either a cancer-causing mutation or as a factor that predisposes someone to develop cancer, to any significant degree.

That being said, this does not mean that the result is invalid or that the test should be repeated. In these cases, what needs to be done is to wait for more time to pass in order to see if more patients develop this variant, and then review the available literature on the case.

However, it is very rare to find an uncertain variant in the results of the Hereditary Breast and Ovarian Cancer Test.

The BRCA1 and BRCA2 genes have been studied for a long time, so the probability of encountering an uncertain variant is very low.

If your medical or family history suggests a genetic mutation and you would like to take the Hereditary Breast and Ovarian Cancer BRCA1 and BRCA2 test, you can do so with us. Operarme works in collaboration with Megalab Laboratories and Nuuma Laboratories, so throughout the website, you can click, purchase, and schedule your genetic analysis.

If you have any questions regarding the test, feel free to contact us by calling at +34 91 141 33 56, or by filling out the contact form.

Do you need to perform an Hereditary Cancer test?

Purchase your medical voucher easily under Operarme's guarantees and select your nearest laboratory.

Purchase Test