BRCA Gene Testing

What is the BRCA gene test?

Breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) are the two primary genes that play a role in hereditary breast cancer and ovarian cancer.

Under normal circumstances, BRCA1 and BRCA2 naturally have a protective effect against these types of cancers. However, when there are mutations in the BRCA1 and BRCA2 genes, it can lead to an increased risk of certain cancers.

BRCA gene testing can be used to determine if you have any changes or mutations within your BRCA1 or BRCA2 genes.

What is the BRCA gene test used for?

BRCA gene testing is used to analyze your BRCA1 and BRCA2 genes for potential harmful mutations that can lead to an increased risk of certain cancers. In women, mutations in the BRCA genes can increase the risk of developing:

• female breast cancer
• ovarian cancer
• fallopian tube cancer
• primary peritoneal cancer
• pancreatic cancer
• Fanconi anemia
• melanoma

Likewise, BRCA gene mutations in men can increase the risk of developing:

• male breast cancer
• prostate cancer
• pancreatic cancer
• Fanconi anemia
• melanoma

In women, BRCA gene mutations are most strongly associated with breast and ovarian cancers. According to one 2017 study, the cumulative risk of developing breast cancer is 72 percent with a BRCA1 mutation and 69 percent with a BRCA2 mutation.

Comparatively, the cumulative risk of developing ovarian cancer is 44 percent with a BRCA1 mutation and 17 percent with a BRCA2 mutation.

In men, BRCA gene mutations are most strongly associated with breast and prostate cancers. More dated research from 2007 found that the cumulative risk of developing breast cancer is 1.2 percent with a BRCA1 mutation and 6.8 percent with a BRCA2 mutation.

In addition, the overall risk of developing prostate cancer is increased 1.9-fold in men with BRCA mutations, especially BRCA2 mutations, according to 2019 research.

Who should get the BRCA gene test?

BRCA gene testing is recommended for people who are most likely to have a gene mutation based on a personal or family history of cancer. According to the Centers for Disease Control and Prevention (CDC), you should consider getting the BRCA test if you:

• have a personal history of breast cancer, ovarian cancer, fallopian tube cancer, or primary peritoneal cancer
• have a family history of breast cancer or ovarian cancer
• are of Ashkenazi Jewish or Eastern European ancestry and have a family history of breast cancer or ovarian cancer
• have a family history of BRCA1 or BRCA2 mutations

Certain people are more likely to have hereditary BRCA gene mutation than others, especially those with a family history that includes themselves or a relative with:

• breast cancer, especially a male
• ovarian cancer
• both ovarian cancer and breast cancer
• a breast cancer diagnosis before the age of 50
• breast cancer in both breasts
• a known BRCA mutation

If you’re concerned that you may have an increased risk of breast or ovarian cancer based on your family history, talk with a doctor about genetic counseling.

What’s the BRCA gene testing procedure like?

BRCA gene testing begins by meeting a doctor or counselor for genetic counseling. Genetic counseling is a process by which your medical and family history is reviewed to determine if genetic testing is the right choice for you.

If your doctor or counselor recommends the BRCA gene test, you’ll be scheduled for a blood or saliva test. While blood testing is the most common method for BRCA testing, saliva testing is a less invasive option.

Once your test has been performed, you can generally expect to receive test results within 2 to 4 weeks.

How much does BRCA gene testing cost?

Coverage of BRCA gene testing ultimately depends on your individual medical insurance plan.

According a 2011 case study, most private insurance companies do cover BRCA gene testing for individuals who meet the eligibility criteria. Eligibility criteria varies from plan to plan, but usually includes individuals who are considered high-risk for cancer.

However, BRCA coverage does not seem to be as common for individuals enrolled in public insurance plans, such as Medicare and Medicaid.

Without insurance, BRCA testing can range from roughly $300 to $5,000 or more, depending on copayments, coinsurance, lab fees, and more.

What are the next steps after BRCA gene testing?

Once you’ve taken a BRCA gene test, there are three possible test results you can receive:

• Positive. A positive result indicates the presence of a harmful BRCA1 or BRCA2 variant, which places you at an increased risk of developing breast, ovarian, or other cancers.
• Negative. A negative result indicates one of two things: 1) that you did not inherit a harmful BRCA1 or BRCA2 variant from a close family member, or 2) that you do not have the specific variant tested for but may possibly have another variant.
• Variant of uncertain significance (VUS). A VUS result indicates the presence of another genetic variant that is rare but not currently associated with an increased risk of cancer.

Depending on your test results, your doctor or genetic counselor will advise you on the next steps. If you have tested positive for BRCA1 or BRCA2 variants, there are many ways that you can reduce your cancer risk, including annual screenings, certain medications, and preventative surgeries.

Takeaway

BRCA gene mutations have been linked to an increased risk of multiple cancers, including breast cancer, ovarian cancer, prostate cancer, and more.

BRCA gene testing is used to determine if a person has a higher risk of developing cancer due to BRCA1 or BRCA2 variants. People who test positive for BRCA mutations can work closely with their doctor and care team to take the steps necessary to reduce the risk of developing cancer in the future.

If you’re concerned about your own family history of breast or ovarian cancer, reach out to a doctor to discuss your eligibility for BRCA gene testing.