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Understanding The Role of Genetics in Ovarian Cancer

This year, more than 21,000 women will be diagnosed with ovarian cancer, and some of these cases will involve women with a family history of cancer.

According to the American Cancer Society, up to 10% of all ovarian cancers result from family cancer syndromes, or inherited gene mutations. These syndromes can present themselves in different ways, including several family members diagnosed with a rare cancer or the same type of cancer, cancer that is diagnosed at a young age and family members who have more than one type of cancer.

Since cancer results from abnormal genes, genetics play a critical role in the development of this disease. Years of research has helped us understand how genes factor into specific cancers, particularly breast and ovarian. According to the Centers for Disease Control and Prevention, mutations in the BRCA1 and BRCA2 genes passed through families cause 3% of all breast cancers, and as I mentioned before, 10% of all ovarian cancers.

These figures highlight why it’s essential to understand your family history, so you can be proactive in maintaining your health and do everything possible to lower your risk. Several resources are available to help you get this information, including genetic testing and counseling. Here’s what you need to know:

Genetic Risk Factors for Ovarian Cancer

Most women have a very small risk of getting ovarian cancer in their lifetime. About 1 out of 100 women will be diagnosed with this disease by age 70. However, women who have a BRCA1 or BRCA2 mutation have an even greater risk—research shows that 30 out of 100 women with this gene mutation will be diagnosed with ovarian cancer. The BRCA1 and BRCA2 genes normally reduce your risk of cancer by producing proteins that allow your cells to function normally. However, when there is a mutation, the cancer-fighting properties of these genes diminishes, increasing your risk for ovarian cancer.

Women inherit this gene mutation from one or both parents. If you have a close relative, such as a sister or grandmother with ovarian cancer, it’s also important to keep track of your family history and review this information with a doctor.

Genetic Counseling & Testing

Genetic counseling and genetic testing are two ways to assess your cancer risk. Genetic counseling involves meeting with a medical professional to understand your genetic risk factors for cancer. People who may not have cancer, but have a strong family history of the disease typically undergo genetic counseling. With genetic counseling, you complete a cancer risk assessment questionnaire and we review it, along with your personal and family history. We then evaluate it and explain your risk for hereditary cancer and give you information about genetic testing.

After genetic counseling, you may decide to proceed with genetic testing. During these tests, we take a blood or saliva sample to determine whether there are mutations in the BRCA1 and BRCA2 genes. The tests are sent to a lab and we get results within several weeks, which we then share with you during a follow-up appointment. It’s important to understand that genetic testing has some advantages and limitations. It helps you better understand your genetic health risks, so that you can be more proactive about reducing these risks. However, these tests don’t provide definitive answers. They cannot tell you that you will get cancer. Also, it’s important to understand that risk doesn’t equal certainty. Even people who have several family members with cancer may never be diagnosed with the disease themselves.

Important Things to Know

If you have a family history of ovarian cancer, genetic counseling and testing are only one piece of the puzzle. You also should pay attention to potential symptoms. If you have abdominal pain, pelvic discomfort or changes in your bowel movements for an extended time, schedule an appointment to see a doctor. Though these symptoms also are associated with other common ailments, like IBS, it never hurts to see doctor and rule out other serious conditions.

Early detection is critical with ovarian cancer because the disease normally isn’t diagnosed until a more advanced stage when it is more difficult to treat. But even still, medical advances have improved the outlook for many patients. Olaparib, an oral drug that slows the growth of cancer cells, may be effective in people who developed cancer because of an inherited gene mutation. Though we need to do more research, previous studies show that people with hereditary ovarian cancer had a 33% response rate to the drug. It’s an encouraging sign that may improve survivorship and how we treat people with hereditary forms of cancers.

Since there is no screening test for ovarian cancer, prevention and paying attention to potential symptoms is key, especially for those with a family history. If you are concerned about your risk, schedule an appointment with a genetic counselor to get more information and to explore the possibility of genetic testing. Going through this process could make you feel more empowered and arm you with the necessary knowledge to reduce your risk.