Genetics play big role in ovarian cancer

In 2024, about 19,680 women in the United States will receive a new diagnosis of ovarian cancer and 12,740 women will die from the disease, said Dr. Shaina Bruce, a gynecologic oncologist at Penn State Cancer Institute. The median age of all patients who develop ovarian cancer is 63.

Historically, women at increased risk for ovarian cancer are recommended to have their fallopian tubes and ovaries removed when they have completed having children. Taking that step to protect themselves comes at a heavy price―surgical menopause.

But Bruce said medical science is catching up with ovarian cancer. Studies could lead to new methods for preventive care and the surgery needed to lower risk may be easier than it once was. Below, during Gynecologic Cancer Awareness Month, Bruce discusses the disease and why acting to reduce your risk is worth it.

What’s the connection between heredity and ovarian cancer?

About 25% of all cases of ovarian cancer occur in people who have a hereditary predisposition for the disease, Bruce said, so if one of your first degree (mother or sister) or second degree (aunt or first cousin) relatives have had the disease, you should undergo genetic testing to see if you also are at increased risk.

The most common genetic culprits of ovarian cancer are mutations on BRCA1 and BRCA2, two genes also known to increase the risk for breast, prostate and other kinds of cancer. A patient with a mutation on their BRCA1 gene has a 40% likelihood of developing ovarian cancer, Bruce said, and BRCA2, 20%.

In patients with a known genetic mutation that increases risk of certain cancers, steps may be taken to reduce their risk. Family members also can determine whether they have the same genetic risk.

What does the surgery entail?

“The trouble with removing ovaries in a young woman in her 30s and 40s is that it puts the patient into surgical menopause,” Bruce said. Women who receive the surgery have the same symptoms of menopause a woman might experience without surgery but later in life―hot flashes, vaginal dryness and mood changes.

“Also, the estrogen that your ovaries make is important,” Bruce said. The hormone protects a woman’s heart and bones, and can decrease her odds of one day developing dementia.

Within the past 10 to 15 years, however, doctors have discovered that more than 80% of ovarian cancers begin in the fallopian tubes. Penn State College of Medicine is joining a surgical choice study that will compare removing only the fallopian tubes of women with a mutation on the BRCA1 gene― with a plan to remove the ovaries later on―to women who have had both the tubes and ovaries removed.

Researchers hope to determine effects of both practices on their risk of developing ovarian cancer. Women who have a BRCA1 mutation and are interested in participating in this study should contact Penn State Health Gynecologic Oncology for more information.

One thing women can do to decrease their risk if they are planning tubal ligation surgery―or “having your tubes tied”―rather than burning or surgically tying off the fallopian tubes, is asking to have the tubes removed altogether.

In any case, the surgery―whether it’s removing just the fallopian tubes or the ovaries and tubes―is minimally invasive outpatient surgery. It’s three small incisions and usually takes a couple of weeks to recover.

Are there any nonsurgical possibilities for mitigating your risk?

Some women opt to wait to have the surgery until after they have finished having children. Screening for ovarian cancer regularly with transvaginal ultrasounds and a blood test to look for cancer indicating antigen also is an option. That’s often recommended in young patients, Bruce said.

For BRCA1 patients, doctors usually don’t recommend surgery until age 35 to 40. The recommended age for preventive surgery for BRCA2 patients is 40 to 45.

“If a patient is younger than that, we can safely do screening until they’re ready for risk-reducing surgery,” Bruce said.

Are the BRCA1 and BRCA2 mutations risky for men as well?

Yes, men also can develop breast cancer and the mutation also can play a role in the risk of prostate cancer, pancreatic cancer and melanoma, Bruce said. So, if a female family member has a known BRCA mutation, male relatives also should get checked.

Who should get checked?

Anyone who has a first- or second-degree relative who was affected by ovarian cancer meets the criteria for testing. In someone with no family members with ovarian cancer, their lifetime risk is 1% to 2%. If the patient has one first degree relative who has been affected by ovarian cancer, their lifetime risk is about 5%. Two relatives, 7% to 10%.

At the moment, doctors don’t screen people for ovarian cancer unless they have a genetic predisposition for it.

What other risk factors are there besides heredity for ovarian cancer?

The idea of preventive surgery sounds awful. What if I don’t want to know?

Compared with the surgery to remove ovarian cancer itself, preventive surgery is usually worth it, Bruce said.

“Ignorance is bliss, right?” Bruce said. “Unfortunately, in oncology I hear that more often than I’d like to admit. But I would say knowledge is power. If you know you have a predisposition, often there’s something that can be done about it. Usually, what can be done preventatively or to reduce your risk is less invasive than what would need to be done if you were diagnosed with the cancer in question.”