Understanding BRCA Testing: Who Should Get Screened?

If a friend, family member, or loved one has been diagnosed with breast, prostate, or ovarian cancer, you may have heard about BRCA genes or BRCA testing, but are confused about their significance.

A BRCA gene is a type of tumor-suppressing gene that everyone has two of: BRCA1 and BRCA2. The job of these genes is to suppress cells that may develop into tumors. When a BRCA gene is mutated, it becomes worse at suppressing these cells, and therefore the cells are more likely to develop into cancerous tumors.

Because BRCA genes are passed down from parents, these mutated genes are what’s known as a genetic risk factor for cancer. Possessing a mutated BRCA gene does not guarantee that an individual has or will develop cancer, but it does elevate that person’s lifetime cancer risk, sometimes significantly.

In this article, you’ll find out what BRCA genes actually do, how they influence cancer risk, how BRCA testing works, and what to do if you or a loved one tests positive for a BRCA mutation.

A BRCA gene test is a test that looks for inherited mutations in the BRCA1 and BRCA2 genes. The test is typically administered by collecting a blood or saliva sample. The sample is then sent to a lab for testing.

The test cannot tell you whether you have or will develop cancer. It can only detect variations in the BRCA genes, some of which are known to increase the risk of developing cancer.

BRCA genes are tumor-suppressing genes, which typically function by producing proteins that slow the growth of tumors which develop into cancers. When these genes are mutated, they can become worse at slowing the growth of tumors, making it more likely that an individual will develop cancer. These mutations are then passed down from parent to child. Individuals with these mutations may be at a higher risk of developing breast, ovarian, pancreatic, or prostate cancers, depending on the mutation and their sex.

According to the National Institute of Health, the normal risk for cancer development in the general population is 12.5% for female breast cancer, 0.1% for male breast cancer and 1% to 2% for ovarian cancer.

• Individuals with a BRCA 1 mutuation have an increased risk of developing breast cancer by age 70 to 44% to 78%, an increased risk of developing ovarian cancer by age 70 to 18% to 54%, and an increased risk of developing male breast cancer by age 70 to 0.22 to 2.8%.
• Individuals with a BRCA 2 mutation have an increased risk of developing breast cancer by age 70 to 31% to 56%, an increased risk of developing ovarian cancer by age 70 to 2.4% to 19%, and an increased risk of developing male breast cancer by age 70 to 3.2% to 12%.

These mutations also increase the risk of developing pancreatic or prostate cancers by 5% to 10%.

BRCA mutations are also autosomal dominant mutations. This means that an individual only needs one copy of a mutated gene passed down to them from a parent for them to develop the mutation. A parent with a single copy of a BRCA mutation has a 50% chance of passing it down to their child.

BRCA screening guidelines identify several indicators for who should get BRCA testing:

Family History Indicators

If an individual has multiple family members who have been diagnosed with breast, ovarian, or other gynecologic cancers, especially under 50, this is considered a family history indicator. This is also true of people who have known mutated BRCA genes in their family or anyone who has a relative with ovarian cancer. These indicators suggest that testing may be in the patient’s best interest. Ashkenazi Jewish populations are also known to have higher rates of BRCA mutations.

Personal History Indicators

If an individual has been diagnosed with ovarian or pancreatic cancer, has been diagnosed with breast cancer at a young age or multiple times, or has been diagnosed with an aggressive prostate cancer, this is an indicator that testing for BRCA mutations may be in their best interest to establish future risk.

Current Guidelines

According to the US Preventive Services Task Force, the current guidelines for who should seek BRCA testing are women with a strong personal family history of breast, ovarian, tubal or peritoneal cancers, or those who have a strong family history with BRCA1/BRCA2 mutations. It is not recommended that individuals who do not fall into these guidelines seek genetic testing.

Your BRCA test will yield one of three results for each gene:

• Positive Result: This means that a gene mutation that is known to increase cancer risk has been detected.
• Negative Result: This means that no BRCA gene mutations have been detected. It does not mean that the individual will not get cancer in the future, or that they don’t have other health conditions that may increase risk of cancer.
• Variant of Uncertain Significance (VUS): This means that a gene mutation has been detected, but it’s not clear if it’s a mutation that is known to increase the risk of developing cancer, as not all BRCA mutations have enough data collected on them to understand their effects.

It can be very scary to discover that you have a BRCA mutation, but it’s important to know that just because you have a BRCA mutation does not mean that you currently have or definitely will develop cancer. Knowledge is power, and knowing that you have one of these mutations enables you to take proactive steps to protect your health, including enhanced screening options and risk-reducing strategies.

Enhanced Screening Options

The National Institute of Health recommends earlier and more frequent mammogram and MRI breast cancer screenings for individuals with harmful BRCA mutations. This also applies to individuals with increased risk of male breast cancer, pancreatic cancer, or prostate cancer. Unfortunately, there are currently no reliable screening options available for ovarian cancer.

Risk-Reducing Strategies

Some individuals who test positive may choose to reduce their risk of developing cancer by undergoing prophylactic surgeries to remove at-risk tissues (such as the breasts, ovaries, or fallopian tubes) before tumors can develop. While this can considerably reduce the risk of developing cancer, these surgeries have many serious side effects and are irreversible, so it’s important to fully discuss the implications of surgery with your doctor. They also cannot guarantee an individual will never develop cancer, as it’s not possible to remove 100% of the tissue.

Other individuals may choose to use medications to reduce their risk of developing cancer, and there are two FDA-approved drugs on the market for this purpose, but it’s important to note that they aren’t intended specifically for individuals who have tested positive for BRCA mutations, and it’s not clear yet if they reduce the risk for those individuals. Some patients also use oral or implant-based birth control to reduce their risk of developing ovarian cancer.

Because individuals with BRCA mutations are more likely to develop secondary cancers or to develop the same cancer multiple times, your medical team may advise more aggressive treatment options if you do develop cancer than an individual who does not have a mutation. Make sure to consult with your doctor so that you understand all of the risks associated with their recommended treatments.

Family Planning Considerations

If you test positive for a BRCA mutation and aim to become pregnant in the future, it’s extremely important to discuss fertility options with your team, as many treatments for BRCA-related cancers can harm a fetus or prevent pregnancy altogether. A qualified oncologist or genetic counselor can help advise about the best options for your future family.

If you’re concerned about the cost of BRCA testing, don’t panic: most health insurance covers BRCA testing for high-risk individuals, and the Genetic Information Nondiscrimination Act (GINA) protects you from being discriminated against if you test positive for one of these mutations. This means that your workplace or health insurance cannot use it to make decisions about health insurance premiums or eligibility.

Depending on your area, a self-paid genetic test may cost anywhere from $250-$1800. Many hospitals offer financial assistance programs, and charitable organizations such as the Ovarian Cancer Testing Alliance offer at-home tests for little to no charge for high-risk individuals who meet certain criteria.

Knowledge is one of the most powerful tools in cancer prevention and treatment. While learning you carry a BRCA mutation can feel overwhelming, testing provides clarity that enables you to take proactive steps to protect your health through enhanced screening and risk-reducing strategies.

If you have a personal or family history that suggests elevated cancer risk, talk to your doctor about whether BRCA testing is right for you. SERO’s oncology doctors in Charlotte works closely with genetic counselors and can provide expert consultation about radiation therapy options for BRCA-related cancers.

Remember: a positive test result doesn’t mean you have or will definitely develop cancer—it means you have the information needed to make informed decisions about your future health.