What is BRCA Test?
A BRCA Test is a genetic test that looks for inherited changes in the BRCA1 and BRCA2 genes. These genes normally produce proteins that help repair damaged DNA and prevent cells from growing uncontrollably. When a harmful change affects one of these genes, its protective function may be reduced, increasing the likelihood that certain cancers will develop over a person’s lifetime.
The test is mainly used to assess inherited cancer risk. Harmful BRCA1 or BRCA2 variants are associated most strongly with breast and ovarian cancer, but they can also increase the risk of male breast cancer, prostate cancer, pancreatic cancer, fallopian tube cancer, and primary peritoneal cancer.
A BRCA result does not tell whether cancer is currently present. Instead, it helps healthcare providers understand whether a person carries an inherited gene change that may affect future screening, prevention, treatment, or family testing decisions.
Why Does a BRCA Gene Change Increase Cancer Risk?
Everyone has two copies of BRCA1 and BRCA2, one inherited from each parent. These genes act as tumour suppressor genes, helping repair DNA damage and controlling abnormal cell growth.
A person who inherits a harmful change in one copy still has another working copy. However, if the second copy later becomes damaged in a breast, ovarian, prostate, pancreatic, or other cell, the cell may lose an important repair mechanism. Over time, further DNA changes may accumulate and contribute to cancer development.
Having a harmful BRCA change means the risk is higher than average; it does not mean cancer is certain to occur.
What are the Symptoms that Prompt this Test?
A BRCA Test is not performed to diagnose cancer symptoms directly. Instead, it is recommended for individuals who may have an increased inherited risk of certain cancers based on their personal or family history.
Your healthcare provider may recommend a BRCA Test if you have:
- A personal history of breast cancer diagnosed at a young age
- Ovarian cancer
- Triple-negative breast cancer
- Multiple family members with breast cancer
- Multiple family members with ovarian cancer
- Male breast cancer in the family
- A family history of pancreatic cancer
- A family history of prostate cancer
- A known BRCA mutation in a blood relative
- Multiple cancers occurring in the same individual or family
Why Is Genetic Counselling Important?
A BRCA test can affect more than the person being tested. The result may influence cancer surveillance, preventive choices, family planning, treatment decisions, and whether relatives should consider testing.
A genetic counsellor or another healthcare professional trained in cancer genetics can help you understand:
- Whether testing is appropriate
- Which test or gene panel may be most useful
- What a positive, negative, or uncertain result could mean
- How the result may affect close relatives
- The emotional and practical implications of testing
Genetic counselling before and after testing helps people make informed decisions and reduces the risk of misunderstanding a complex result.
BRCA Testing Versus a Multigene Cancer Panel
A BRCA-only test looks specifically at BRCA1 and BRCA2. A multigene hereditary cancer panel examines BRCA1, BRCA2, and several other genes linked with inherited cancer risk.
A wider panel may be useful when the family history does not clearly point to one gene or when several different cancers occur in the same family. However, testing more genes can also increase the chance of finding a variant of uncertain significance, which may be harder to interpret
The most appropriate option depends on the person’s diagnosis, ancestry, family history, and whether a specific familial gene change is already known.
How is the Test Performed?
Preparation
- Fasting is not required.
- For a blood test, there are no special preparations.
- You may be asked not to eat, drink or smoke for half an hour before a saliva test.
- Before a cheek swab test you could be asked to rinse your mouth.
- Discuss your personal and family history of cancer with your healthcare provider.
- Discuss the possible benefits and implications of genetic testing with your health care provider or genetic counsellor.
- Follow any other instructions given prior to collection of the specimen.
Collection
For a blood test, a sample is taken from the vein in your arm using a small needle.
For a saliva test, you will be asked to spit into a container, or a cotton pad will be used to soak up some saliva.
For a cheek swab, a special swab or brush will be used to take a sample from your cheek.
Lab Analysis
Advanced genetic testing will be used to test the sample for mutations in BRCA1 and BRCA2 genes. The lab is looking for mutations in genes, or inherited changes to the DNA sequence, that can increase a person’s risk of developing cancer. The results are combined with personal and family medical histories and genetic counselling, to assess the significance of any mutations that are found and to inform future health care decisions.
What Do BRCA Test Results Mean?
BRCA results are not reported as high or low. They are generally classified as positive, negative, or variant of uncertain significance.
Positive Result
A positive result means that a harmful or likely harmful inherited change was found in BRCA1 or BRCA2.
This means:
- The person has an increased risk of certain cancers.
- The result may affect future screening or preventive-care discussions.
- It may influence treatment decisions for someone who already has cancer.
- Close biological relatives may carry the same familial variant.
Each child, sibling, or parent of a person with an inherited BRCA variant may have a chance of carrying the same change because it can be passed through either the mother’s or father’s side of the family.
A positive result does not show whether or when cancer will occur.
Negative Result
A negative result means no harmful BRCA1 or BRCA2 change was detected in the genes examined.
Its meaning depends heavily on the family context.
If a known family variant was tested for and not found, the result is usually more informative. If no relative with cancer has been tested and no family variant is known, a negative result may be less conclusive. The family’s cancer history may still suggest an inherited risk involving another gene or a change that current testing did not identify.
A negative result does not mean that the person has no risk of breast, ovarian, prostate, pancreatic, or another cancer.
Variant of Uncertain Significance
A variant of uncertain significance (VUS) is a genetic change whose effect on cancer risk is not yet clear.
A VUS is not treated the same way as a confirmed harmful variant. Medical decisions are generally based on personal and family history rather than on the uncertain result alone. As research develops, the laboratory may later reclassify the variant as harmless or harmful.
This is one of the most important reasons BRCA results should be discussed with a genetics professional.
“The reference ranges vary depending on the laboratory and the methodology used. Individuals must consult their healthcare provider for correct interpretation of the results.”
What Happens if Test Results Show Abnormal Findings?
A positive or abnormal result does not lead to one automatic plan. The next steps depend on the gene involved, the person’s age, sex, previous cancer history, family plans, and individual preferences.
A healthcare provider may discuss:
- Earlier or more frequent cancer screening
- Breast MRI or mammography where appropriate
- Risk-reducing medicines in selected cases
- Risk-reducing surgery
- Prostate, pancreatic, or other screening in eligible individuals
- Treatment implications for a person who already has cancer
- Testing close biological relatives for the same familial variant
Risk management should be personalised and discussed with specialists experienced in hereditary cancer
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