Syndromes That Cause Ovarian Cancer

Ovarian cancer is highly aggressive and often fatal—about 13,700 women in the United States will die from it in 2021—in part, because it is so difficult to diagnose. Its symptoms are often misdiagnosed as irritable bowel syndrome (IBS) or other common conditions that we tend to take less seriously. As a result, ovarian cancer is often missed until it has advanced to a point where treatment is difficult.

Fortunately, the syndromes most commonly associated with ovarian cancer have specific symptoms that can be identified with bloodwork.

Hereditary breast & ovarian cancer

Hereditary breast and ovarian cancer (HBOC) is a genetic condition that is diagnosed when a patient has a consistent family history of breast or ovarian cancer on one or both sides of the family. Identifying the number of family members with this history is a first step to receiving genetic testing. If testing reveals you carry genetic mutations in the BRCA1 or BRCA2 gene, most doctors will recommend that other family members get tested as well, so they can receive preventive care.

Although this genetic syndrome is rare, people carrying the BRCA1 gene mutation have a 25 to 40 percent lifetime risk of developing ovarian cancer, and those carrying the BRCA2 gene mutation have a 10 to 20 percent risk of getting ovarian cancer. Women with HBOC also have a 45 to 75 percent lifetime risk of breast cancer.

When HBOC is diagnosed, your physician will typically increase the frequency of diagnostic testing such as Pap smears, mammograms, and uterine and ovarian ultrasounds to increase the chances of early cancer detection.

Even if breast and ovarian cancer are not common in your family, having family members younger than 40 who were diagnosed with these cancers, or having a family history of other cancers, such as prostate, pancreatic or skin cancer, can all indicate you may be more likely to develop cancer.

Cowden & Li-Fraumeni syndrome

Cowden syndrome and Li-Fraumeni syndrome (LFS) are two rare conditions known to be associated with ovarian cancer.

Cowden syndrome is more common in women with fibrocystic breasts, uterine fibroids or thyroid diseases. A large, noncancerous growth in the mouth, nose or other area of the body can sometimes be a warning sign. Only an estimated 1 in 250,000 people are diagnosed with this syndrome, but it often leads to ovarian cancer later in life.

Li-Fraumeni syndrome is a genetic condition similar to HBOC in which a person carries a specific gene but does not have any symptoms. Genetic testing is the only way to know that someone has this syndrome, and a family history of cancers is often the main reason doctors will suggest testing. It can be a difficult decision to be tested, but results could provide vital information since LFS predisposes a person to other rare cancers such as leukemia, osteosarcoma and thyroid cancers.

Polycystic ovary syndrome

This syndrome is far more common but was not associated with an increased risk of ovarian cancer until the early 2000s. A study published in the Hippokratia Quarterly Medical Journal found that women who were diagnosed with polycystic ovary syndrome (PCOS) were at an increased risk of type 2 diabetes and hypertension, and were associated with a higher incidence of ovarian and breast cancer.

Polycystic ovary syndrome is a condition that can develop as early as your first menstrual cycle or as a result of excessive weight gain. It can cause ovaries to develop numerous small collections of fluid (follicles), which often prevent proper ovary functions. These ovarian changes can negatively impact fertility and disrupt your normal menstrual cycle.

Some of the common symptoms of PCOS include irregular periods, abnormal hair growth (caused by high androgen levels), acne, thinning hair, weight gain, skin tags and darkening of the skin in the neck and groin areas. Discussing these symptoms with your doctor is an important first step in diagnosis.

Many treatment options are available for polycystic ovary syndrome, including hormonal therapies to try to regulate androgen levels, and managing the secondary conditions such as hypertension and diabetes. While polycystic ovary syndrome is treatable, it is often missed in routine examinations.

Monitoring your health and documenting any changes in your cycle or body that could indicate hormonal changes is essential for early diagnosis and treatment of any of these syndromes, and, ultimately, for prevention of ovarian and other reproductive cancers.