What to Do If You Are BRCA Positive: Key Steps

A positive BRCA result means you carry a change in your BRCA1 or BRCA2 gene that significantly raises your lifetime risk of certain cancers. More than 60% of women with a harmful BRCA1 or BRCA2 change will develop breast cancer during their lifetime, compared to about 13% of women in the general population. That number can feel overwhelming, but a positive result is not a diagnosis. It’s a starting point for a series of concrete decisions that can dramatically lower your risk.

Understand Your Specific Risk

Not all BRCA mutations carry the same risks, and BRCA1 and BRCA2 differ in important ways. Knowing which gene is affected helps you and your medical team prioritize the right actions.

For breast cancer, both mutations raise lifetime risk above 60%. Ovarian cancer risk, however, varies considerably: women with a BRCA1 change face a 39% to 58% lifetime risk, while BRCA2 carriers face a 13% to 29% risk. Pancreatic cancer risk rises to about 5% for BRCA1 carriers and 5% to 10% for BRCA2. Men are affected too. Prostate cancer risk by age 80 ranges from 7% to 26% for BRCA1 carriers and 19% to 61% for BRCA2 carriers. Male breast cancer risk also increases, reaching 8.3% for BRCA2 and 1.8% for BRCA1, compared to 0.1% in the general male population.

These numbers represent lifetime risk without any intervention. The whole point of knowing your status is that you can act to change those odds.

Work With a Genetic Counselor

If you haven’t already met with a genetic counselor, this is the most important first step. Genetic counselors are trained to walk you through what your specific mutation means, which cancers to focus on, and how to build a screening and prevention plan. They also help you process the emotional weight of the result, which is real and worth acknowledging. Studies consistently show that genetic counselors and oncologists remain the most trusted sources of information for BRCA carriers, more so than online research or peer advice alone.

Pre-test counseling is standard before genetic testing, but post-test counseling is where the actionable planning happens. If your result came through a direct-to-consumer test rather than a clinical setting, getting connected with a genetic counselor is especially important to confirm the result and understand its implications.

Start Enhanced Screening

Standard screening timelines don’t apply to you. BRCA carriers need earlier, more frequent monitoring to catch cancer at its most treatable stage.

For breast cancer, guidelines recommend clinical breast exams every six to twelve months and annual screening starting before age 40. Your screening will typically alternate between mammograms and breast MRI, so you’re being checked roughly every six months by one method or the other. MRI is particularly valuable for BRCA carriers because it detects cancers that mammograms can miss in younger, denser breast tissue.

For ovarian cancer, there is no reliable screening test comparable to a mammogram. Transvaginal ultrasound and blood tests have been studied, but they don’t catch ovarian cancer early enough to significantly improve outcomes. This is a major reason why preventive surgery (discussed below) plays such a central role in ovarian cancer risk management for BRCA carriers.

For pancreatic cancer, screening is recommended for carriers who also have a family history of pancreatic cancer. Initial screening typically uses endoscopic ultrasound or MRI rather than CT, since these methods are better at detecting small lesions. Screening generally begins around age 50, or earlier if there’s a strong family pattern.

Consider Preventive Surgery

Preventive surgery offers the most significant risk reduction available to BRCA carriers, and it’s worth understanding the options even if you’re not ready to decide immediately.

Bilateral preventive mastectomy reduces breast cancer risk by at least 95% in women with BRCA1 or BRCA2 mutations. This is the most effective single intervention for breast cancer prevention. The decision is deeply personal and involves considerations about body image, reconstruction options, recovery time, and timing around life events. Many women choose this route in their 30s or 40s, while others opt for intensive screening instead.

Removal of the ovaries and fallopian tubes is currently recommended for BRCA carriers between ages 35 and 40, or after completing childbearing. Because ovarian cancer screening is unreliable, this surgery carries particular weight in a BRCA risk-management plan. It also has the added benefit of reducing breast cancer risk in premenopausal women by lowering estrogen levels. The trade-off is surgical menopause, which brings its own health considerations including bone density loss, cardiovascular changes, and menopausal symptoms. Your medical team can help you manage these effects.

Medication for Risk Reduction

If you’re not ready for or don’t want surgery, certain medications can lower breast cancer risk. Tamoxifen and raloxifene are both FDA-approved for breast cancer risk reduction. Tamoxifen has been available for this purpose since 1998 and can be used by premenopausal and postmenopausal women. Raloxifene, approved in 2007, is an option for postmenopausal women. Both work by blocking the effects of estrogen on breast tissue. These medications reduce risk but don’t eliminate it the way surgery does, and they come with their own side effects that are worth discussing with your doctor.

Tell Your Relatives

One of the most impactful things you can do after a positive result is inform your blood relatives. First- and second-degree relatives (parents, siblings, children, aunts, uncles, nieces, nephews, and grandparents) should be offered genetic counseling and what’s called cascade testing. This means testing your family members specifically for the mutation already identified in you, which is straightforward and highly efficient. Each of your siblings has a 50% chance of carrying the same mutation, and each of your children does too.

This conversation can be difficult. Some family members may not want to know, and that’s their right. But giving them the option allows those who do test positive to start their own screening and prevention plans early, when intervention is most effective.

Reproductive Planning Options

If you’re thinking about having children, you can prevent passing the BRCA mutation to the next generation through a process called preimplantation genetic testing. This involves IVF: embryos are created, tested for the specific BRCA mutation, and only unaffected embryos are transferred. Research confirms this is a safe and effective option for BRCA carriers. However, usage remains low, with studies showing only 10% to 26% of eligible patients pursue it, often due to cost, access, or personal beliefs about whether the mutation warrants this level of intervention.

Genetic counseling before starting this process helps you weigh whether it’s the right choice for your family. Carrying a BRCA mutation doesn’t mean your child will get cancer, so there’s no single correct answer here.

Screening for Men With BRCA Mutations

BRCA conversations often focus on women, but men with these mutations face real and underappreciated risks. Men with BRCA2 changes have the highest concern: prostate cancer risk can reach as high as 61% by age 80, and male breast cancer risk is roughly 80 times the general population rate. The European Association of Urology recommends that men with BRCA2 mutations begin prostate cancer screening with PSA testing at age 40, after discussing the potential risks and benefits. Data from the IMPACT study suggests that for men aged 55 to 69 with BRCA2 changes, annual PSA screening detects one clinically significant prostate cancer for every 13 men screened.

For breast awareness, men with BRCA mutations are encouraged to learn how their chest tissue normally looks and feels, and to report any changes promptly. Male breast cancer is rare even among carriers, but it’s highly treatable when caught early.

Know Your Legal Protections

The Genetic Information Nondiscrimination Act (GINA), passed in 2008, protects you from discrimination based on your genetic information in two key areas. Health insurers cannot use your BRCA status to deny coverage, set premiums, or make underwriting decisions. This applies to private insurers, Medicare, Medicaid, and federal employee plans. Employers with 15 or more employees cannot use genetic information in hiring, firing, promotions, or job assignments.

GINA has a notable gap: it does not cover life insurance, long-term care insurance, or disability insurance. Some states have additional laws that fill these gaps, but many do not. If you’re considering purchasing any of these policies, it may be worth looking into your state’s protections. The U.S. military is also exempt from GINA’s employment protections.