BRCA Gene Testing

What is BRCA gene testing?

BRCA gene testing is a genetic test to look for inherited genetic mutations in your BRCA1 and BRCA2 genes. BRCA1 and BRCA2 are called tumor suppressor genes. They help to protect us from developing cancer by controlling how fast our cells grow. BRCA genes can also repair damage to our DNA that may turn healthy cells into cancer cells.

Mutations in the BRCA1 and BRCA2 genes have been linked to breast cancer, ovarian cancer, prostate cancer and pancreatic cancer. If you have a genetic change in these BRCA genes, it does not mean that you will develop cancer, but you may be at an increased risk.

How is BRCA gene testing performed?

Before BRCA gene testing, you will be offered genetic counseling. A trained professional will discuss your potential risk based on your medical history, and your family history.

The test involves taking a sample of blood or saliva. Your genes will then be examined in a laboratory for genetic changes.

Who should have a BRCA gene test?

A BRCA test may be recommended if:

• You or a close relative has breast cancer: A genetic change in the BRCA1 and BRCA2 genes can increase the risk of breast cancer in women and men.
• You or a close relative has ovarian cancer: Both genes are linked to an increased risk of developing ovarian cancer.
• You or a close relative has prostate cancer: A change in the BRCA gene is linked to an increased risk of prostate cancer spreading in men.
• You or a close relative has pancreatic cancer: Mutations in these genes are linked to an increased risk of developing pancreatic cancer in men and women.
• You develop breast cancer before the age of 50.
• You have triple-negative breast cancer.
• You develop breast cancer in both breasts.
• A close relative has the BRCA genetic mutation.

A genetic counselor can help you to decide whether the BRCA gene test would be of benefit to you.

What are the possible results from a BRCA gene test?

There are three possible results:

• Positive: You have a genetic change in the BRCA1 or BRCA2 gene.
• Negative: You do not have a genetic change in the BRCA1 or BRCA2 gene.
• Inconclusive: A genetic change has been detected but the increased risk of cancer is not clear.

A genetic counselor will discuss the results with you in detail. Remember, a positive result does not mean that you have cancer, it means that you may be at an increased risk.

If your result is positive, additional screenings designed to catch cancer early may be recommended, such as:

• Mammograms: It may be recommended that regular mammograms start earlier to help detect early signs of breast cancer.
• Prostate cancer screening: Early prostate cancer screening can detect early signs of the disease.

Lifestyle changes, such as quitting smoking, eating well and avoiding carcinogens, will also be discussed, which can reduce cancer risk.

If you test positive for the BRCA gene mutation, there is a high chance that close relatives (parents, siblings and children) will also have the mutation. A genetic counselor will discuss the impact on them and whether they should have the test.