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BRCA Gene Mutations: What To Know About Ovarian Cancer Risk

Posted on March 09, 2022
Medically reviewed by
Howard Goodman, M.D.
Article written by
Maureen McNulty

BRCA gene mutations are a possible cause of ovarian cancer. Ovarian cancer develops when genetic mutations (changes) build up within cells of an ovary. Usually, cancer is caused by acquired mutations — changes in genes that develop in one or a couple of cells during a person’s lifetime. In other cases, cancer is caused by inherited mutations. Inherited mutations are those passed down from parent to child, and they are present at birth.

People born with inherited changes in their BRCA genes are more likely to develop ovarian cancer. They also have a higher risk of developing other cancers, such as breast cancer.

What Are BRCA Gene Mutations?

Genes act as sets of instructions. They tell your cells how to make the proteins that perform many different jobs inside cells and tissues.

Some genes have mutations that affect the proteins that they make. Gene mutations may prevent a cell from making a particular protein, lead to production of an abnormal protein, or prompt a cell to make a protein when it shouldn’t. Changes in proteins can have several different effects on a cell that can lead to cancer.

Gene mutations can:

  • Lead a cell to grow and divide too quickly, producing many new cells that can form a tumor
  • Cause a cell to ignore signals telling it to stop growing
  • Make it harder for a cell to heal itself, causing damage to build up in the cell

Several different gene mutations can increase a person’s ovarian cancer risk. Changes in genes called BRCA1 and BRCA2 are some of the most common. Normally, the BRCA genes make proteins, which are also called BRCA1 and BRCA2. These proteins fix damaged DNA (the cellular molecules that contain genes). When they function properly, BRCA proteins help prevent your cells from turning cancerous.

When there are mutations in the BRCA genes, the cells make abnormal BRCA proteins. These defective proteins can’t heal DNA damage. As a result, the cell’s other genes develop mutations. Those mutations make the cell look and behave increasingly abnormally. When enough mutations build up, the cell becomes a cancer cell.

BRCA Mutations and Ovarian Cancer Risk

People with mutations in either BRCA gene are more likely to develop ovarian cancer. The National Library of Medicine notes that, in the general population, about 1.6 percent of women with the mutations are diagnosed with ovarian cancer at some point during their life. However, the organization has shared that between 40 percent and 60 percent of people with inherited BRCA1 mutations develop ovarian cancer. Additionally, the group reported BRCA2 mutations lead to a 20 percent to 35 percent lifetime risk of ovarian cancer.

Changes in the BRCA genes can also increase a person’s risk of other types of cancer. In particular, people with BRCA gene changes also have a higher chance of being diagnosed with breast cancer. Sometimes BRCA gene mutations run in a family, and multiple family members on the same side are diagnosed with breast and ovarian cancer. When this happens, doctors say the family has hereditary breast and ovarian cancer syndrome (HBOC).

Inherited BRCA mutations also lead to higher rates of pancreatic cancer and melanoma. Those with both prostate glands and BRCA gene changes are also more likely to develop prostate cancer.

When BRCA mutations are detected in people with ovarian cancer, certain targeted therapy drugs may be an option. Cancer cells with abnormal BRCA proteins are more sensitive to damage. A class of medications called poly (ADP-ribose) polymerase (PARP) inhibitors can further increase damage in these cells, causing them to die. Examples of PARP inhibitors include Lynparza (olaparib), Rubraca (rucaparib), and Zejula (niraparib).

Testing for BRCA Mutations

Doctors can find BRCA mutations through genetic testing. This process involves collecting a blood or saliva sample, which is sent to a laboratory. There, technicians test the cells’ DNA for changes in BRCA1, BRCA2, or other genes that have been connected with breast cancer or ovarian cancer.

There are a couple of possible results that a test may uncover, including:

  • A variant of unknown significance (VUS) — Your cells have changes in a gene linked to ovarian cancer, but doctors aren’t sure whether those specific mutations can cause ovarian cancer.
  • A negative test result — You don’t have any detected changes in any tested genes. This may mean that your ovarian cancer is not caused by inherited factors, or that your cancer is caused by gene mutations that haven’t yet been discovered.
  • A positive test result — You have an inherited mutation that is known to increase cancer risk.

Experts are still learning about how different mutations may cause cancer. That means that over time, as more research is shared, your VUS may be recharacterized as positive or negative.

If you are a candidate for genetic testing, you are usually paired with a genetic counselor. Your counselor can help you decide whether undergoing a genetic test may be helpful to you. (These tests can be expensive and aren’t always covered by insurance, so some people may be hesitant.) Should you proceed, your genetic counselor will answer your questions about the tests. They will also explain your test results.

Some experts recommend that all people with ovarian cancer undergo genetic testing. Those with other types of cancer might also be genetic testing candidates. In particular, if a doctor suspects that someone’s cancer was caused by inherited (rather than acquired) factors, they will likely recommend testing. Those in the considered pool can include anyone diagnosed with breast cancer at a young age, anyone with cancer in both breasts, or anyone diagnosed with multiple different types of cancer.

Genetic testing may also be an option for people with or without cancer. That occurs when a person has had multiple close relatives who were diagnosed with breast or ovarian cancer. It’s especially relevant if those relatives were diagnosed at a young age. If you have a family history of cancer, ask your doctor if genetic counseling and testing may be a good idea.

How Can People With BRCA Mutations Reduce Their Risk?

If you have an inherited BRCA mutation, your doctor may recommend strategies to lower your risk of ovarian cancer and breast cancer. You may need to make lifestyle changes, take certain medications, and undergo regular screening. You may also want to consider prophylactic (risk-reducing) surgery.

Lifestyle Changes

Some ovarian cancer risk factors can be changed. Eating a healthier diet, being more physically active, and maintaining a healthy weight can help lower a person’s risk. Additionally, quitting smoking may lower your chances of being diagnosed with a type of ovarian cancer called mucinous ovarian cancer. Women who give birth and breastfeed also have a slightly lower risk of developing ovarian cancer. On the flip side, using hormone replacement therapy after menopause can lead to higher ovarian cancer rates.

These same lifestyle factors mentioned above are also linked to an increased risk of breast cancer. Additionally, drinking alcohol makes a person more likely to be diagnosed with breast cancer. The less you drink, the more you lower your risk.

Medications To Reduce Risk

According to the American Cancer Society, females who use oral contraceptives (birth control pills) are only half as likely to develop ovarian cancer as those who don’t. However, these medications can also increase a person’s risk of breast cancer. Talk to your doctor about whether birth control pills can help you manage your cancer risk.

Prophylactic Medications or Surgery

Prophylactic surgery — surgery intended to prevent or lessen the chance a person has to develop a disease — can also reduce risk. People who undergo a salpingo-oophorectomy (removal of one or both of the ovaries and fallopian tubes), in particular, have a much lower risk of developing ovarian cancer. In fact, research has found that people with BRCA mutations who undergo the surgery are only one-fifth as likely to develop ovarian cancer, compared to those who don’t undergo the surgery. And this specific surgery may also reduce a person’s likelihood to develop breast cancer, too. However, the procedure comes with side effects. It impacts a person’s fertility and it will bring on menopause earlier than someone would typically experience it.

A prophylactic mastectomy (removal of the breast tissue) can also help reduce a person’s cancer risk. According to the National Cancer Institute, females with BRCA mutations who opt for a mastectomy are 95 percent less likely to be diagnosed with breast cancer.

Screening for Breast and Ovarian Cancer

Doctors sometimes use screening tests to look for early signs of cancer. Breast cancer screening is widely recommended. But there is no reliable way to screen for ovarian cancer yet.

Breast cancer screening may help find tumors early. Early detection can lead to better outcomes. The American Cancer Society recommends that people who are 45 to 54 years old and who have an average risk of cancer get yearly mammograms. (A mammogram is an X-ray imaging test of one’s breasts). The group advises people 55 or older should get mammograms every one to two years. But for those with BRCA mutations — or other factors that put them at high risk — should start getting mammograms yearly, starting at age 30. Doctors may also recommend additional imaging tests, such as magnetic resonance imaging (MRI).

Ovarian cancer screening tests are less helpful at detecting cancer early. Researchers have studied two possible screening tests. One measures blood levels of CA-125 (a protein sometimes made by cancer cells). Another involves a transvaginal ultrasound (an imaging test that looks inside the pelvis). However, studies have shown that CA-125 and transvaginal ultrasound screenings don’t effectively reduce ovarian cancer death rates overall.

If you have a family history of breast or ovarian cancer, or if you have tested positive for BRCA mutations, ask your health care team how often you should undergo cancer screenings.

Talk With Others Who Understand

On MyOvarianCancerTeam, the social network for people with ovarian cancer and their loved ones, more than 3,000 members come together to ask questions, give advice, and share their stories with others who understand life with ovarian cancer.

Have you undergone genetic testing for BRCA mutations? Share your experiences in the comments below, or start a conversation by posting on your Activities page.

All updates must be accompanied by text or a picture.
Howard Goodman, M.D. is certified by the American Board of Obstetrics and Gynecology and specializes in the surgical management of women with gynecologic cancer. Review provided by VeriMed Healthcare Network.. Learn more about him here.
Maureen McNulty studied molecular genetics and English at Ohio State University. Learn more about her here.

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