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BRCA1 and BRCA2 Testing: Who Should Get Tested and What Results Mean
By Dr. Gajendra Kumar Himanshu
BRCA1 and BRCA2 testing is a type of genetic testing that searches for hereditary (passed down from a parent) changes (mutations) in the BRCA1 and BRCA2 genes that are associated with increased risk of breast, ovarian, prostate, pancreatic, and some other cancers. Testing is only indicated for those with specified patterns of personal or family history. The data may assist in informing decisions about cancer screening, prevention, and treatment for patients and their family members.
In this blog, we discuss BRCA1 and BRCA2 testing, who should seek genetic testing, what positive, negative and ambiguous results mean, how the test is performed and how the results may impact cancer prevention, treatment and family health planning.
Why is it important to test for BRCA1 and BRCA2?
Some people think cancer is always caused by lifestyle or age. Most cancers are not hereditary. However, some cancers are inherited via genes transferred from parent to child. BRCA1 and BRCA2 are two of the best-known genes associated with inherited malignancies.
Normally, these genes are involved in repairing damaged DNA and preventing cells from growing out of control. If either gene acquires a damaging mutation, DNA repair in the body is impaired, increasing lifelong risk for several malignancies.
Knowing if you carry a BRCA mutation can help doctors develop a specific plan for cancer screening, risk reduction, and treatment. It may also give useful information to close relatives who could carry the same hereditary mutation.
What are the BRCA1 and BRCA2 genes?
We all get 2 copies of the BRCA1 and BRCA2 genes, one copy from each parent. These genes are tumor suppressors that help repair DNA and promote healthy cell division.
People with an inherited deleterious mutation are at far higher risk than the general population for numerous types of cancer. But having a mutation does not mean that cancer will grow. It just implies it’s a higher risk; therefore, regular monitoring and preventive care are that much more important.
Who should get tested for BRCA1 and BRCA2?
Genetic testing is not advised for everyone. Generally, doctors recommend testing when there is a strong suggestion that an inherited mutation may be present.
If you have the following, you may benefit from BRCA1 and BRCA2 testing:
- Breast cancer diagnosed at a young age
- Diagnosed with triple-negative breast cancer before the age of 60
- Ovarian, fallopian tube or peritoneal carcinoma
- Family history of linked malignancies
- Breast cancer in men
- High-risk or metastatic prostate cancer
- More than one relative with breast, ovarian, pancreatic or prostate cancer
- A known BRCA mutation in your family
- Ashkenazi Jewish heritage with a personal or family history of BRCA-related malignancies
Your medical and family history can be discussed with a genetic counselor or oncologist to see if testing is appropriate for you.
How is BRCA testing done?
The test is easy and often involves either a blood or saliva sample.
After the sample is taken, it is sent to a specific lab that tests the BRCA1 and BRCA2 genes to see if there are hereditary changes (mutations). The results are usually available in a few weeks, though the exact duration varies by laboratory.
Genetic counseling before and after testing is strongly advised because the results may affect medical decisions and family members.
Understanding Your BRCA Test Results
Receiving a genetic test report might be stressful. Understanding what each result implies helps make future decisions easier.
BRCA test outcomes and what they mean
Test Outcome | What This Means |
|---|---|
Positive | A pathogenic BRCA mutation was identified. Increased risk of some cancers, but not a guarantee of cancer. Doctors might suggest increased screening, preventive medications, or risk-reducing surgery. |
Negative | No deleterious BRCA mutation was found. Because cancer risk is based on your personal and family history, you may still need routine screening. |
Variant of Uncertain Significance (VUS) | A genetic change was detected, but it’s unclear what that means for cancer risk. Until further information is available, medical decisions are largely based on personal and family history. |
What does a positive BRCA test mean?
A positive test does not mean you have cancer. Rather, it empowers doctors to create a tailored risk-management plan.
Recommendations may be based on age, health, and family history and may include:
- More frequent and earlier breast cancer screening
- Annual breast MRI and mammogram
- Ovarian cancer risk assessment
- Prophylactic treatment for some patients
- Risk-reducing surgery in selected circumstances
- Genetic counselling of relatives
Many people with BRCA mutations never get cancer, particularly if they are under regular surveillance and have preventive therapy.
Does BRCA Testing Change Cancer Treatment?
Yes. BRCA testing can be useful to guide treatment decisions for patients who already have a cancer diagnosis.
PARP inhibitors are targeted drugs that are especially effective for some malignancies caused by BRCA mutations. The findings may potentially impact surgical planning, choices of chemotherapy, and long-term follow-up measures.
Results should be evaluated with an oncology team specialized in hereditary tumors, as treatment recommendations are individualized for each patient.
Should family members be screened?
If a family member is identified as having a BRCA mutation, other close blood relatives may have acquired the same mutation.
Testing eligible family members allows them to know their own cancer risk and to initiate necessary screening or preventative steps before cancer starts. This technique, sometimes called cascade testing, can help protect the health of generations of family members.
Emotional and Practical Concerns
Learning about genetic risk for cancer can be a comfort, a mystery, or a source of dread. Some people are worried about their children or siblings. Others feel empowered by knowing information that enables early intervention.
Talking to a genetic counselor can help you understand your options, interpret your results accurately, and make educated decisions without unneeded anxiety.
For more information about hereditary cancer and BRCA testing, visit the National Cancer Institute.
Consult Today
If you have a family history of breast, ovarian, pancreatic, or prostate cancer, or have been recommended to pursue genetic testing, the oncology specialists at Oncare Cancer Hospital can help you. Our team helps you and your family understand your genetic risk with assessment, counseling, necessary testing, and tailored treatment planning to help guide healthcare decisions.
Frequently Asked Questions
No. BRCA testing is often offered to those with a personal or family history that suggests a hereditary cancer risk. Your doctor or a genetic counselor can help you determine if testing is right for you.
No. A positive result suggests that your lifetime risk is higher than average, but it does not mean you will get cancer. This risk can be well handled with regular screening and preventive interventions.
Yes. Men can inherit BRCA1 or BRCA2 mutations and are at higher risk for male breast cancer, prostate cancer, pancreatic cancer, and can also pass the mutation on to their children.
There is no perfect age. Testing is often suggested when results may affect medical management, especially in adults with a significant family history or following a cancer diagnosis.
Written and Verified by:
Dr. Gajendra Kumar Himanshu Exp: 10 Yr
Medical Officer
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