BRCA Testing: Breast & Ovarian Cancer Risk

The BRCA test is a gene test that looks for BRCA1 and BRCA2 gene mutations. Modifications in the BRCA1 and BRCA2 genes affect the risk of developing breast and ovarian cancer. BRCA gene test can help the doctor determine if someone is at a higher risk of developing these cancers.

When considering BRCA screening, more information can be helpful. This article discusses the essentials of BRCA gene testing, its purpose, target candidates, preparation, and more.

What is BRCA Testing?

BRCA gene stands for breast cancer gene. BRCA1 and BRCA2 are the two primary genes that play a major role in hereditary breast and ovarian cancer. Usually, these genes are protective against these two cancers. However, mutations in these two genes can increase the risk of breast and ovarian cancer.

Genetic testing for BRCA gene checks for mutations to the BRCA1 and BRCA2 genes and helps the doctor assess breast and ovarian cancer risk.

What is the Purpose of a BRCA Test?

The primary purpose of the BRCA test is to help doctors estimate the risk of genetic breast cancer and ovarian cancer.

Changes to the BRCA1 and BRCA2 genes in women can also increase the risk of other cancers, such as:

1. Primary peritoneal cancer
2. Pancreatic cancer
3. Fallopian tube cancer
4. Melanoma

In men, the mutations in these two genes can be associated with:

1. Male breast cancer
2. Prostate cancer
3. Pancreatic cancer
4. Melanoma

Who Should Get a BRCA Test?

Someone can consider getting the BRCA test if they have:

1. History of breast cancer
2. History of ovarian cancer
3. History of prostate cancer
4. History of pancreatic cancer
5. A blood relative with a history of above cancers
6. A blood relative with mutations in BRCA1 and BRCA2 genes discovered through gene testing

BRCA testing can be done on a close blood relative or a family member who has had breast or ovarian cancer. If gene mutations are not found, the rest of the family will not likely have the mutations either. However, it’s best is to consult a doctor about concerns regarding getting a BRCA test done.

How to Prepare for a BRCA test?

The first step in the preparation of a BRCA gene test is deciding whether the test is required. Here’s how individuals can determine if they require the test and prepare for BRCA gene testing, if needed:

1. Undergo genetic counselling to determine the risks, benefits, and limitations of genetic counselling for a particular individual.
2. Gather information about one’s family medical history.
3. Extensively document personal medical history, including any previous genetic testing results.
4. Mentally prepare oneself for positive, negative and indeterminate BRCA test results.

How to Interpret the Test results of a BRCA Test?

Usually, a BRCA gene test is a blood test. A blood sample is acquired and sent for testing. However, in some cases, the doctor or genetic counsellor can also recommend giving a saliva sample for DNA testing. The results of a BRCA test can take a few weeks and come back as positive, negative or indeterminate.

1. Positive BRCA Test Result

A positive BRCA gene breast cancer and BRCA gene ovarian cancer test result indicates mutations to the BRCA1 and BRCA2 genes. However, a positive result does not indicate a certainty of getting cancer, and further tests can be done to determine the presence of cancer.

Depending on one’s age, medical history, past treatments and surgeries, and personal preferences, doctors can recommend screenings, medication or treatment to reduce the risk of cancer.

2. Negative BRCA Test Result

A negative BRCA test result indicates the absence of any mutations to the BRCA1 and BRCA2 genes.

However, a negative test result does not ensure a lower cancer risk. In this case, the cancer risk can be the same as that of the general population.

3. Indeterminate BRCA test Result

When the BRCA test result shows a gene mutation the doctors aren’t sure about, it is considered indeterminate. Doctors or genetic counsellors can further help understand the indeterminate test results.

BRCA gene testing helps the doctor assess the risk of hereditary breast and ovarian cancer. However, before considering BRCA gene testing, knowledge of the test, target candidates, preparation and expected results, is essential.

BRCA testing can help those at higher risk of breast and ovarian cancer to work with their doctors and reduce the risk. If an individual qualifies as a target candidate for BRCA gene testing, they should consult a doctor and book a BRCA test at Dr LalPath Labs.

FAQs

1. Can BRCA testing be performed at home?

BRCA testing can be performed at home using at-home testing kits. However, BRCA testing performed in a clinical setting has the highest accuracy.

2. What risk is associated with BRCA gene testing?

There are no risks associated with BRCA testing. However, some people can feel lightheaded or have minor bruising from the blood draw.