BRCA testing is a genetic test that checks for harmful changes in two genes, BRCA1 and BRCA2, that significantly raise a person’s lifetime risk of developing breast, ovarian, prostate, pancreatic, and other cancers. The test typically requires a simple blood draw or saliva sample, with results coming back within a few weeks.
Everyone has BRCA1 and BRCA2 genes. In their normal form, these genes help repair damaged DNA inside your cells, acting as a built-in defense against tumors. When one of these genes carries a harmful change (called a pathogenic variant), that repair system doesn’t work properly, and damaged cells are more likely to grow unchecked into cancer.
How the Test Works
The most common method is a blood draw from your arm. The sample is sent to a lab where technicians analyze the DNA in your BRCA1 and BRCA2 genes, looking for any changes that could affect how those genes function. Some testing centers accept a saliva sample instead. Results typically take a few weeks.
The test looks at the inherited version of your genes, meaning the DNA you were born with and could pass on to your children. If you carry a harmful variant, each of your children has a 50% chance of inheriting it.
What the Results Mean
Your results will fall into one of three categories:
- Positive (pathogenic or likely pathogenic variant): A harmful change was found in BRCA1 or BRCA2. This means you have a significantly increased risk of certain cancers, though it does not mean you will definitely develop cancer.
- Negative: No harmful changes were detected. If a known family variant was being tested for and you don’t carry it, your risk drops closer to the general population’s level.
- Variant of uncertain significance (VUS): A change was found, but there isn’t enough data yet to determine whether it raises cancer risk. Most VUS results are eventually reclassified as benign (not harmful) as more research data accumulates. A VUS result can feel frustrating, but it generally should not change your medical management.
Cancer Risks for Women
About 13% of women in the general population will develop breast cancer in their lifetime. Women with a harmful BRCA1 or BRCA2 variant face a dramatically higher risk, with lifetime breast cancer estimates ranging from roughly 45% to 72% depending on the gene and the study. Ovarian cancer risk climbs from under 2% in the general population to somewhere between 10% and 44% for BRCA carriers, with BRCA1 variants carrying the higher end of that range.
Cancer Risks for Men
BRCA testing isn’t only for women. Men with BRCA2 variants face a prostate cancer risk roughly five to nine times higher than average, with a lifetime risk estimated around 60%. BRCA1 carriers also have elevated prostate cancer risk, though to a lesser degree, with lifetime estimates of 15% to 45%.
Male breast cancer is rare overall (about 1 in 833 men), but BRCA2 carriers have a lifetime risk of 7% to 9%. Pancreatic cancer risk also rises: up to 7% lifetime risk for BRCA2 carriers and about 3% for BRCA1 carriers, compared to roughly 1.5% in the general population.
Who Should Consider Testing
Genetic testing is most useful when your personal or family history suggests an inherited pattern. Key indicators include a close relative (parent, sibling, or child) diagnosed with breast cancer before age 50, multiple family members with breast or ovarian cancer, a male relative with breast cancer, Ashkenazi Jewish ancestry, or a known BRCA variant already identified in your family.
Guidelines recommend that people with a strong family history be referred to a genetic counselor who can evaluate the specific pattern of cancer in your family and help determine whether testing makes sense. A genetic counselor also helps you understand what results would mean for you before you decide to test.
What Happens After a Positive Result
A positive result opens up a range of options for managing your risk. These fall into two broad categories: enhanced screening and risk-reducing surgery.
Enhanced Screening
For women, this often means alternating between a mammogram and breast MRI every six months so the breasts are imaged twice a year, along with regular clinical breast exams. For men with BRCA2 variants, prostate cancer screening with a PSA blood test is recommended starting at age 40, with annual testing. Male BRCA2 carriers may also be offered mammograms or breast ultrasounds starting at age 50. Pancreatic cancer screening with abdominal MRI or endoscopic ultrasound may be recommended starting at age 50 for carriers of either variant, or 10 years before the earliest pancreatic cancer diagnosis in the family.
Risk-Reducing Surgery
Preventive removal of both breasts (bilateral mastectomy) reduces breast cancer risk by at least 95% in BRCA carriers. The surgery can preserve the nipple and areola or remove them entirely, depending on the situation and the person’s preference. This is a significant decision, and not everyone with a positive result chooses it.
Removal of the ovaries and fallopian tubes is another option for women, primarily to reduce the risk of ovarian and fallopian tube cancer. For women who have already been diagnosed with breast cancer, this surgery also cuts the overall risk of dying from any cause by more than half. Removing the ovaries triggers early menopause, so the timing of this decision involves weighing cancer risk against family planning and hormonal effects.
Cost and Legal Protections
Many health insurance plans cover BRCA testing when it’s recommended based on family history or other risk factors. The Affordable Care Act requires most private insurers to cover genetic counseling and testing for women at elevated risk with no out-of-pocket cost. Without insurance, testing can range from a few hundred to several thousand dollars, though some direct-to-consumer options have brought prices down.
If you’re worried that testing positive could be used against you, the Genetic Information Nondiscrimination Act (GINA) provides important protections. Health insurers cannot use your genetic information to deny coverage, set premiums, or make underwriting decisions. This applies to private insurance, Medicare, Medicaid, and federal employee health plans. Employers with 15 or more workers also cannot use genetic test results in hiring, firing, promotions, or pay decisions.
GINA does have gaps. It does not cover life insurance, long-term care insurance, or disability insurance. The U.S. military is also exempt and can use genetic information in employment decisions. These gaps are worth knowing about before you test, particularly if you’re planning to apply for life or long-term care coverage.