Living with a BRCA mutation: What you need to know about your cancer risk

Pink DNA double helix to represent a breast cancer genetic mutation.


Monica Peravali, M.D. 

Have you undergone genetic testing and learned you have a BRCA gene mutation? If so, you may be worried about what’s next.

As a board-certified oncologist at Kaiser Permanente, I want people with BRCA mutations to feel empowered by their genetic information and know they can take steps to lower risk of developing breast cancer and other cancers associated with BRCA gene mutations.

What is BRCA?

BRCA stands for Breast Cancer Associated genes. Everyone has two copies of the BRCA gene—the BRCA1 gene and the BRCA2 gene. People with changes, or mutations, to these genes, are at increased risk of breast cancer as well as ovarian cancer, prostate cancer, pancreatic cancer and melanoma (skin cancer). Though cancer risk is higher with a BRCA mutation—for example, more than 60% of women who inherit a BRCA mutation will develop breast cancer during their lifetime compared with about 13% of women in the general population—not everyone with a BRCA gene mutation will develop cancer.

Who’s at increased risk for a BRCA mutation?

People who are of Ashkenazi Jewish descent have a higher chance of having a the BRCA gene mutation. Others who may be more likely to have a BRCA mutation include those with several relatives who have had breast cancer or ovarian cancer, or those whose relatives received a breast cancer diagnosis before the age of 50.

Anyone with a family history of breast, prostate or ovarian cancer—especially first-degree relatives diagnosed with cancer at a young age or multiple family members with related cancers—should consider genetic testing.

What happens if I have a BRCA mutation?

Knowledge is power. If you learn you carry a BRCA gene mutation, the next steps fall into two categories: screening and prevention.

Screening protocols:

Knowing that you have a BRCA mutation provides you with an opportunity to get screened differently than those of average risk. Here’s the breakdown:

Breast cancer (for those assigned female at birth whose breasts have not been surgically removed)

Average risk: Women can (and should!) talk to their doctor at any age regarding their breast health. Beginning at age 40, this group should get screened annually with a 2D or 3D mammogram.

BRCA mutation carriers: If you carry a BRCA mutation, annual magnetic resonance imaging (MRI) may begin as early as age 25, with mammograms added at age 30. At age 30, these tests should alternate every six months.

Breast cancer (for those assigned male at birth)

Average risk: Men can get breast cancer, but it is rare. Routine breast cancer screening is not recommended for this group.

BRCA mutation carriers: Men who carry a BRCA gene mutation can consider mammograms. Screening may begin before age 50 if the earliest age of breast cancer diagnosis in the family was before age 60 (up to 10 years earlier than the youngest diagnosis in the family).

Ovarian cancer (for people with ovaries)

Average risk: There is no recommendation for routine cancer screening.

BRCA mutation carriers: You may be able to get screened for ovarian cancer with  ultrasounds and blood tests.

Pancreatic cancer

Average risk: There is no recommendation for routine cancer screening.

BRCA mutation carriers: Pancreatic cancer screening is recommended for people with a BRCA1 mutation who have a first-degree relative with pancreatic cancer, starting at age 50, or 10 years younger than the earliest family diagnosis.

Prostate cancer (for people with a prostate gland)

Average risk: Those at average risk of prostate cancer should begin talking to their health care provider about prostate cancer screening at age 50. If you are Black or have a strong family history, screening may be considered as early as age 40-45.

BRCA mutation carriers: Start this shared-decision making process with your doctor at age 40.  You may opt for regular screening with a prostate-specific antigen (PSA) test.

Skin cancer

Average risk: Talk to your dermatologist to help assess your skin cancer risk and come up with a screening plan that is right for you

BRCA mutation carriers: I encourage anyone in this group to see a dermatologist for an annual skin check.

Remember, Early Detection = Better Outcomes, and that holds true for BRCA mutation carriers. Following a comprehensive screening schedule for these cancers can help catch cancer at its earliest stages, when treatment is most likely to be effective.

Preventive options:

Preventive surgeries may be an option for those with BRCA mutations. These may include:

  • Bilateral mastectomy (removal of both breasts)
  • Bilateral salpingo-oophorectomy (removal of ovaries and fallopian tubes).

For BRCA1 carriers, preventive ovarian surgery is recommended around age 35.

For BRCA2 carriers, the surgery is recommended around age 40.

These decisions should factor in family planning, as surgeries can lead to early menopause and infertility.  Choosing to undergo preventive surgery is a personal decision that will look different for everyone. Talking with your health care provider about all your options and the best plan for you is a great place to start.

READ ALSO: The journey of Tracy Milgram: From previvor to founder of BRCAStrong 

Preventive medications, including tamoxifen or anastrozole, may also be used to reduce breast cancer risk.

Sharing your genetic information with your family

If you learn you have a BRCA gene mutation, sharing that information with your family is important. Your family may benefit from genetic testing, preventive measures and more frequent cancer screenings.

READ ALSO: Preventing cancer can be a family affair: Ali’s story

Having a BRCA gene mutation doesn’t guarantee cancer, but it does significantly increase the risk. The good news is that with that information, you can take charge of your health. Open conversations with your health care team can help you make informed decisions tailored to your life and goals.

Monica Peravali head shot for BRCA genetic mutation blog.

Monica Peravali, M.D., is a board-certified oncologist with the Mid-Atlantic Permanente Medical Group. She sees patients at the Kaiser Permanente Largo Medical Center.