BRCA Gene Testing: The Complete Guide to Understanding Your Risk

Every person carries two copies of the BRCA1 and BRCA2 genes. These are tumor suppressor genes, meaning their normal function is to produce proteins that help repair damaged DNA and prevent cells from growing out of control. When either gene has a harmful mutation (also called a pathogenic variant), the DNA repair process is compromised and cells are more likely to develop the genetic changes that lead to cancer.

BRCA1 is located on chromosome 17 and BRCA2 on chromosome 13. Mutations in these genes are inherited in an autosomal dominant pattern, which means inheriting just one mutated copy from either parent is enough to increase cancer risk. Each child of a carrier has a 50 percent chance of inheriting the mutation.

It is important to understand that carrying a BRCA mutation does not mean cancer is inevitable. It means the body has one less line of defense against abnormal cell growth. For a deeper understanding of how these genes function and the specific mutations that have been identified, see our guide to BRCA1 and BRCA2 genes explained, or explore our dedicated guides to the BRCA1 gene and the BRCA2 gene.

Approximately 1 in 400 people in the general population carry a BRCA mutation. In certain populations, such as people of Ashkenazi Jewish descent, the prevalence is significantly higher — roughly 1 in 40. Three specific mutations (known as founder mutations) account for the majority of BRCA cases in this population.

Not everyone needs BRCA testing, but certain personal and family history factors significantly increase the likelihood that a harmful mutation is present. The National Comprehensive Cancer Network (NCCN) has established clear guidelines for who should consider genetic testing for hereditary breast and ovarian cancer.

You should strongly consider BRCA testing if any of the following apply to you or your close blood relatives:

• Breast cancer diagnosed before age 50
• Ovarian, fallopian tube, or primary peritoneal cancer at any age
• Triple-negative breast cancer diagnosed before age 60
• Male breast cancer at any age
• Two or more primary breast cancers in the same person
• Breast cancer plus one or more additional BRCA-associated cancers (pancreatic, prostate, melanoma)
• Ashkenazi Jewish ancestry with any breast or ovarian cancer
• A known BRCA mutation in the family

Even if you have not been diagnosed with cancer, a strong family history may warrant testing. Our detailed eligibility guide explains who should consider genetic testing for cancer and helps you understand whether your personal situation meets the criteria.

If you are unsure whether testing is appropriate for you, our free screener can help you assess your risk factors in about 60 seconds.

The cancer risks associated with BRCA mutations vary depending on which gene is affected and, in some cases, the specific location of the mutation within the gene. Here are the most well-established risk associations based on current research:

Breast Cancer

Women with a BRCA1 mutation have a 55 to 72 percent lifetime risk of developing breast cancer, compared to about 13 percent in the general population. BRCA2 carriers have a 45 to 69 percent lifetime risk. Men with a BRCA2 mutation also face an elevated risk of breast cancer, estimated at 6 to 8 percent over a lifetime.

Ovarian Cancer

BRCA1 mutations carry a 39 to 44 percent lifetime risk of ovarian cancer. BRCA2 mutations carry a 11 to 17 percent risk. The general population risk is approximately 1.2 percent, making this one of the most dramatic risk elevations associated with any genetic mutation.

Other Cancers

Both BRCA1 and BRCA2 mutations are associated with increased risk for pancreatic cancer. BRCA2 is also associated with elevated prostate cancer risk in men, as well as melanoma. Emerging research continues to explore connections with other cancer types.

Beyond BRCA1 and BRCA2, modern multi-gene panel tests also screen for other genes in the DNA damage repair pathway that carry moderate breast cancer risk. These include PALB2 (41–60% lifetime breast cancer risk), ATM (25–40%), and CHEK2 (20–40%). For a broader look at all hereditary cancer genes and syndromes, see our guide to hereditary cancer screening.

These numbers represent lifetime cumulative risk, not a certainty. Many carriers never develop cancer, particularly when they pursue enhanced screening and preventive measures after learning their status.

BRCA testing has become remarkably straightforward. Most testing can be done with a simple blood draw or a saliva sample, depending on the laboratory performing the analysis. Here is what the process typically looks like from start to finish:

Pre-Test Counseling

Before testing, you will typically meet with a genetic counselor or healthcare provider who will review your family history, explain the testing process, discuss what the results might mean, and help you prepare emotionally for the possible outcomes. This step is important because genetic testing results can have implications not just for you, but for your entire family.

Sample Collection

The actual sample collection takes only a few minutes. A blood draw from your arm is the most common method, though many labs now accept a saliva sample collected at home. The sample is sent to a specialized laboratory for analysis.

Laboratory Analysis

In the lab, your DNA is extracted and the BRCA1 and BRCA2 genes are sequenced to look for harmful mutations. Modern testing uses next-generation sequencing technology that can detect single-nucleotide changes, small insertions or deletions, and larger structural rearrangements. For a detailed walkthrough of each phase, see our guide to the genetic testing process.

Results Delivery

Results are typically available within two to four weeks. Your genetic counselor or ordering physician will review the results with you and explain what they mean for your health management going forward.

BRCA test results fall into three categories, and understanding what each means is essential for making informed decisions about your healthcare.

Positive (Pathogenic or Likely Pathogenic)

A positive result means a harmful mutation was found in your BRCA1 or BRCA2 gene. This confirms an increased cancer risk and typically triggers recommendations for enhanced screening protocols, preventive medications, or risk-reducing surgery. A positive result also means your blood relatives may carry the same mutation and should consider testing themselves.

Negative

A negative result means no harmful mutation was found. However, the interpretation of a negative result depends on context. If a specific mutation has already been identified in your family and you test negative for that mutation, your risk is likely similar to the general population. If no family mutation is known, a negative result is less definitive because there may be other genetic factors not covered by the test.

Variant of Uncertain Significance (VUS)

Sometimes testing identifies a genetic change whose effect is not yet well understood. This is called a variant of uncertain significance (VUS). A VUS should not be used to make medical decisions. Over time, as more data is collected, many VUS results are reclassified as either benign or pathogenic.

For a comprehensive explanation of all possible outcomes and what they mean for your next steps, read our guide to understanding your genetic test results.

Concerns about insurance and privacy are among the most common reasons people hesitate to pursue genetic testing. Understanding the legal protections in place can help you make an informed decision.

Insurance Coverage

Most health insurance plans, including Medicare, cover BRCA testing when it is medically indicated based on personal or family history. The Affordable Care Act requires most plans to cover genetic counseling and BRCA testing for women who meet certain risk criteria with no out-of-pocket cost. If testing is recommended by your healthcare provider, your insurance is likely to cover it.

The Genetic Information Nondiscrimination Act (GINA)

The federal GINA law, enacted in 2008, prohibits health insurers and employers from discriminating based on genetic information. This means your health insurance company cannot deny coverage, raise premiums, or impose pre-existing condition exclusions based on your genetic test results. Employers cannot use genetic information in hiring, firing, or promotion decisions.

Limitations of GINA

GINA does not cover life insurance, disability insurance, or long-term care insurance. Some states have enacted additional protections that extend to these areas, but coverage varies. If these policies are a concern, you may want to secure them before undergoing testing.

For a complete overview of insurance implications and your privacy rights, see our article on insurance, privacy, and genetic testing.

If you are a BRCA mutation carrier who is considering starting or expanding a family, your genetic status introduces additional considerations that are important to discuss with your healthcare team.

Reproductive Options

Several reproductive options are available to BRCA carriers who want to reduce the chance of passing the mutation to their children:

• Preimplantation genetic testing (PGT): Used with in vitro fertilization (IVF), PGT can screen embryos for the specific BRCA mutation before implantation. This allows couples to select embryos that do not carry the mutation.
• Prenatal testing: Amniocentesis or chorionic villus sampling (CVS) can test a developing fetus for a known BRCA mutation, though this approach raises complex ethical considerations.
• Natural conception with future testing: Some carriers choose to conceive naturally and plan for their child to be tested when they reach adulthood.

Timing of Risk-Reducing Surgery

For BRCA carriers considering risk-reducing surgery such as prophylactic mastectomy or oophorectomy, the timing of these procedures must be weighed against family planning goals. Removal of the ovaries is typically recommended between ages 35 and 40 for BRCA1 carriers and between 40 and 45 for BRCA2 carriers, but this timeline may need to be adjusted to accommodate childbearing.

Our detailed guide covers planning pregnancy with a cancer gene risk, including how to work with genetic counselors and reproductive specialists to develop a plan that addresses both your cancer risk and your family goals.

Regardless of your BRCA test result, the most important next step is to work with your healthcare team to develop a personalized management plan. Here is a general framework for what to do after receiving your results.

If Your Result Is Positive

A positive BRCA result opens the door to several evidence-based risk management strategies:

• Enhanced screening: For breast cancer, this typically includes annual mammograms and breast MRIs starting at age 25 to 30. For ovarian cancer, transvaginal ultrasound and CA-125 blood tests may be recommended, though these are less reliable as screening tools.
• Risk-reducing medications: Medications such as tamoxifen or raloxifene may reduce breast cancer risk by up to 50 percent in high-risk women.
• Risk-reducing surgery: Prophylactic mastectomy reduces breast cancer risk by approximately 90 percent. Risk-reducing oophorectomy reduces ovarian cancer risk by 80 percent and also provides some reduction in breast cancer risk.
• Cascade testing: Your blood relatives should be informed and offered testing for the specific mutation found in your family. Learn more about cascade testing for families.

For a comprehensive action plan after a positive result, see our guide on what to do when your test result is positive.

If Your Result Is Negative or VUS

Even with a negative result, you should continue age-appropriate cancer screening as recommended by your doctor. If your result is a VUS, periodic check-ins with your genetic counselor are recommended because VUS classifications can change as new research becomes available. For guidance on what to expect from a genetic counseling session, see our detailed walkthrough.

Whatever your result, genetic testing is a powerful tool that puts actionable information in your hands. The goal is not to eliminate risk entirely — it is to give you the knowledge you need to make proactive, evidence-based decisions about your health. A genetic counselor specializing in cancer can help you navigate these decisions at every stage.