About Familial Ovarian Cancer

The ovaries are two walnut-sized glands in the female reproductive system that produce and store eggs and secrete female hormones involved in menstruation and fertility.

Cancer develops when certain cells in an ovary become abnormal and multiply uncontrollably to form a tumor. Each year, about 22,000 women in the United States learn they have ovarian cancer.

A woman's lifetime risk of developing ovarian cancer is about 1 in 75 and although most cases most cases occur by chance, up to 15 to 20% of ovarian cancers are related to an inherited gene mutation. Hereditary ovarian cancers may cluster in families and tend to develop earlier in life than non-inherited (sporadic) cases.

Ovarian cancer remains a difficult diagnosis. No one screening test can reliably detect the disease in the general population, and because symptoms are often vague, most women are not diagnosed until the cancer has spread beyond the ovary when treatment is less effective, and options are limited. Currently, screening and early detection efforts are focused on women at highest risk with a family history of the disease. Learn more about Roswell Park’s High Risk Ovarian Clinic.

Although ovarian cancer occurs only in women, the mutated gene can be inherited from either the mother or the father. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit mutations in these genes will ultimately develop cancer. In many cases of ovarian cancer that cluster in a family, the genetic basis for the disease and the mechanism of inheritance are unclear. That’s why the Familial Ovarian Cancer Registry is so important – the more specimens and data the registry collects, the more we can learn about ovarian cancer.

Ovarian Cancer in BRCA-negative Families

While we now know that families with inherited genetic mutations on the BRCA1 and/or BRCA2 genes face increased risk for breast and ovarian cancer, researchers at Roswell Park are using information in the Registry database to explore what might be driving ovarian cancer in who are BRCA-negative. Identifying new gene mutations associated with ovarian cancer can help identify which women and families would benefit from screening, increased surveillance or preventive options.