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Pregnancy, Fertility, and the BRCA Genes: Answers for Hopeful Parents

The decision to start or add to your family is always a big one, and when you have a higher risk of cancer because of a BRCA gene mutation, it may feel even bigger. But having a BRCA1 or BRCA2 variant doesn’t mean you can’t have a family — in fact, pregnancy can be protective against cancer in this situation.

Both BRCA1 and BRCA2 help us fight cancer by controlling tumor growth and repairing our DNA. But when they mutate (change), BRCA genes can’t hold tumors back from growing.

We inherit our genes from our parents, and that can include mutated BRCA1 or BRCA2.

 If one parent carries a harmful BRCA variant, each child has a 50 percent chance of having it. Although BRCA is typically associated with breast cancer in women, men can also be carriers and be at increased risk of developing different cancers.

The Centers for Disease Control and Prevention (CDC) reports that about 1 out of every 500 women in the United States has a BRCA mutation.

 Women and men who have a BRCA mutation have a higher risk of these cancers:

  • Breast
  • Ovarian
  • Uterine
  • Colon
  • Pancreatic
  • Gallbladder/bile duct
  • Stomach
  • Skin (melanoma)
  • Prostate

Of these, breast and ovarian cancer are the most common in women.

Fertility and genetics are complex, and many factors can affect your ability to have children. But the research gives us a lot of good news and plenty of options for building the family you want.

BRCA Gene Mutations and Fertility

A woman’s fertility depends in part on the number of eggs the ovaries produce (the ovarian reserve), and BRCA variations can affect that number, says Mariya Rozenblit, MD, a researcher and an assistant professor of medical oncology and a member of the Yale Cancer Center at Yale School of Medicine in New Haven, Connecticut.

“There are studies that have shown that BRCA carriers have lower ovarian reserve and therefore should be counseled about the possibility of a shorter time span in which it may be possible to become pregnant,” says Dr. Rozenblit.

One study found that BRCA1 variant carriers have a higher risk of premature ovarian insufficiency, which means their ovaries start slowing down egg production earlier than normal.

If you are worried about potential challenges to conception, there are options you may discuss with your doctor.

Being pregnant at age 30 or younger holds no extra risk for BRCA carriers, and it may actually lower the risk for breast cancer and other cancers. Regardless of BRCA status, a full-term pregnancy lowers a woman’s risk of ovarian and endometrial cancers, with each additional pregnancy lowering the risk even further.

If you think you may be a BRCA mutation carrier, speak with your healthcare provider about testing for the gene variants, which is done using a blood or saliva sample.

Once you know you have a BRCA mutation, you can take steps to prevent cancer and start your family.

See a Fertility Specialist or Other Healthcare Provider

If you have a BRCA mutation and want to take charge of your family planning options, your first step is to see a healthcare provider. “Meet with a fertility specialist early to measure important hormone levels and ovarian reserve, to discuss possible fertility preservation options, and to discuss best timing for future [preventive] procedures,” says Rozenblit.

Other providers who can help you on this journey include:

  • Gynecologic oncologists
  • Breast surgical oncologists
  • Genetic counselors

If you don’t know where to start, a general practice doctor can help you get set up with the right specialists.

“It’s important to think about the optimal timeline for family planning,” says Rozenblit. Even if you’re not thinking about having kids soon, you may want to consider procedures like egg harvesting to protect your ability to grow your future family.

Young people with BRCA variants often feel pressure to have kids earlier than they’d like to so they can have their ovaries removed preventively, says Raimonda Goldman, DO, the chief of medical oncology at Holy Name health system in New Jersey. Luckily, alternatives exist thanks to fertility preservation (more on this below).

For those with a cancer diagnosis, Goldman refers all her young patients to a fertility specialist before they start chemotherapy so they can also discuss fertility preservation strategies.

Consider Preventive Surgery and Fertility Preservation

Some women with BRCA mutations choose to have preventive surgery to lower their risk of cancer. Two common surgeries include:

  • Salpingo-oophorectomy: Removal of the ovaries and fallopian tubes reduces the risk of ovarian cancer by 80 to 90 percent.

  • Bilateral mastectomy: Removal of both breasts reduces the risk of breast cancer by about 90 percent.

Experts recommend ovary removal between ages 35 and 40 for BRCA1 carriers, says Rozenblit, and between 40 and 45 in BRCA2 carriers. If you’re considering an oophorectomy, Rozenblit recommends fertility preservation, which involves stimulating the ovaries and removing eggs.

These eggs are then cryogenically frozen and saved until you need them. What’s more, when a provider chooses eggs to implant in the future, they can test for the BRCA mutations and choose eggs with no variants, so you won’t pass on your BRCA gene variants to your kids, says Rosenblit.

Ask About Preimplantation Genetic Testing

If you’re concerned about BRCA mutations passing onto your children, you can ask your provider about preimplantation genetic testing. In this test, a few cells are taken from your harvested embryos and their DNA examined for evidence of the BRCA gene. Once you know, you and your provider can make a plan for how you want to go forward with implantation.

Get Frequent Screenings

If you choose not to have preventive surgery, you can check for early cancer growth through frequent mammograms, ultrasounds, and magnetic resonance imaging (MRI), says Goldman. When you have BRCA mutations, your provider may also recommend you start screening at a younger age.

You can check your ovarian reserve through a simple blood test ordered by your provider which checks for anti-Müllerian hormone (AMH). Released by your ovaries, AMH can tell your provider how many eggs you’re producing.

  • If you carry a BRCA gene mutation and dream of starting or expanding your family, research suggests that pregnancy doesn't pose extra risks for you.
  • Pregnancy may even lower your chances of certain cancers.
  • It's a great idea to discuss your family planning timeline with a healthcare provider to explore your options, such as fertility preservation and screening steps
  • Screening can be done on both you and your eggs if you opt to harvest them.

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