A detailed guide to understanding what BRCA testing is, who should get tested, and what results you can expect.

There are many forms of cancer, out of which some are hereditary cancers. With so many different types of the disease and many treatments and screening tests available, understanding hereditary cancers can be confusing. Hereditary breast and ovarian cancer (HBOC) is one such topic. There is also a genetic testing available to determine your risk factors for such cancers, known as BRCA testing.

What is BRCA testing all about?

First of all, the genetic BRCA testing is not a test to detect whether or not if you have cancer. Rather, it is a test that helps doctors determine whether you and your family are at an increased risk of developing breast cancer or ovarian cancer. BRCA testing is done to check if there are any mutations in the BRCA1 or BRCA2 genes. These genes are usually present in all people, and belong to a class of genes called tumor suppressors.

What does HBOC mean?

Hereditary breast and ovarian cancer (HBOC) refers to these two cancers that run in certain families, and this may occur because of some alteration in the BRCA1 or BRCA2 genes of the family members. If you have a BRCA gene mutation, you can have up to an 87 percent chance of breast cancer and up to 44 percent of developing ovarian cancer. Such genetic mutations can be passed down to you from either parent. If a man has such a mutation, his risk of developing breast cancer and prostate cancer goes up.

Who should be tested for BRCA mutations?

A genetic counselor can be of help if you want to understand whether or not you have an inherited risk of developing breast or ovarian cancer. Usually, people asked to get BRCA testing done have one or more of these factors:

• Family members who have multiple cancers (for example, breast and ovarian)
• Several members of the family who had different cancers throughout generations
• A family member who was diagnosed with cancer before the age of 50
• A history of male breast cancers in the family, or clustering of other cancers such as prostate, colon, or stomach

How is BRCA testing done?

In most cases, BRCA testing involves a simple blood test using a needle to draw blood. This blood sample is then sent to a special lab for DNA analysis. Your doctor may recommend genetic counseling both before and after the BRCA testing. In some cases, BRCA testing is done by collecting other sample types for the DNA analysis, like your saliva or a skin biopsy.

How long after the BRCA testing can I expect the results?

It usually takes a number of weeks to get the results for your BRCA testing. You get your test results from your genetic counselor, and then discuss the next steps depending on your results.

What can the test results mean?

If you test positive after your BRCA testing, it means that you have an inherited genetic mutation of the BRCA1 or BRCA2 gene. Although it means that you are at an increased risk of developing breast or ovarian cancer, it does not mean that you will get these cancers for sure.

A negative result means that you do not have an inherited genetic mutation in your BRCA genes. However, it does not indicate that you will never develop cancer in your lifetime.

A third type of result is found in approximately 7 percent of BRCA testing cases, which reveals a mutation that is of unclear significance. This means that either of the BRCA1 or BRCA2 gene has some abnormality, but it isn’t clear that the abnormality is associated with an increased chance of developing breast or ovarian cancer.

Depending on your BRCA testing results, your doctor will recommend the best course of action for you. If you test positive, he/she will discuss the options that you have and the things that you can do to manage your risk of developing breast or ovarian cancer.