Genetics & Ovarian Cancer

Having a family history of certain cancers—such as ovarian, fallopian tube, peritoneal and breast—is significant because it suggests that you and/or family members may have inherited an alteration, known as a mutation, in certain genes.  Although most cancers are a sporadic occurrence, approximately 15-20% of ovarian cancers are related to an inherited gene mutation. 

Your risk for ovarian cancer is increased if you inherit mutations in certain genes, such as BRCA1 and BRCA2 (associated with hereditary breast and ovarian cancer), or the mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM) associated with Lynch syndrome or HNPCC. 

Mutations in the BRCA1 and BRCA2 genes are currently believed to be the most common hereditary cause for ovarian cancer.  Your risk for developing ovarian cancer increases dramatically if you carry a gene mutation in BRCA1 or BRCA2. For example:

  • About 1.3% of the general population of women will develop ovarian cancer during their lifetime
  • Up to 44% of the women with a BRCA1 mutation will develop ovarian cancer during their lifetime
  • 25% of women with a BRCA2 mutation will develop ovarian cancer in their lifetime

Mutations in these genes are also associated with increased risk for breast cancer in women and men, prostate cancer and, in some cases, pancreatic cancer. Genetic testing examines your DNA (from a blood or saliva sample) to analyze whether you have certain harmful gene mutations associated with cancer risk.

Should I Have Genetic Testing?

Although these gene mutations are rare, and genetic testing is not appropriate for everyone, guidelines by the National Comprehensive Cancer Network (NCCN) indicate that all women diagnosed with ovarian cancer and their immediate family members, regardless of their age at diagnosis or their family history, are candidates for genetic testing. In addition, consider these points:

  • If you have cancer, knowing whether your ovarian cancer is associated with a genetic mutation may change the medical management of your disease.
  • If you do not have cancer, but have a family history suggestive of hereditary risk, knowing whether you carry a mutation in a cancer susceptibility gene allows you to opt for early detection and preventive measures such as increased screening and surveillance, and medical or surgical options.

Roswell Park offers genetic counseling and testing by healthcare professionals with specialized graduate degrees in medical genetics and counseling. These genetic counselors can help you determine whether genetic testing is right for you, including discussing the impact the results could have on the cancer risk for you and your family members, and the medical options available for managing that risk going forward. All results, and what they mean for you, are explained by your genetic counselor and kept confidential. You may want to consider genetic counseling if your personal or family history includes:

  • Ovarian cancer (at any age)
  • Breast cancer diagnosis before age 50
  • Both breast and ovarian cancer in the same woman or same family
  • Multiple breast cancers in the family
  • Colon, uterine and/or ovarian cancer in the same family
  • Male breast cancer
  • Breast or ovarian cancer (at any age) and Ashkenazi Jewish ancestry
  • Family member with a mutation in a cancer susceptibility gene

Most insurance companies cover the cost of genetic testing when you, or your family history, include the above characteristics.

Learn more about Roswell Park’s Genetic Counseling and Testing.

Familial Ovarian Cancer — A Life-Saving Registry

Learning more about how ovarian cancer runs in families and which genes may be involved is important to discovering new ways to prevent, detect and treat the disease. More than 30 years ago, Roswell Park started a registry to collect information—such as demographic details, personal and family history, and blood samples—from women and families who have ovarian cancer.

Under the direction of Shashikant Lele, MD, Clinical Chief of Gynecologic Oncology at Roswell Park, the Familial Ovarian Cancer Registry tracks and stores data compiled from women nationwide. With this information, cancer researchers hope to identify new genes associated with ovarian cancer to improve genetic and psychosocial counseling for these patients, and to determine whether lifestyle choices may reduce ovarian cancer risk among this population.

Familial Ovarian Cancer Registry Eligibility Criteria

You are eligible for the Registry if your family history includes one of the following:

  • Two or more cases of ovarian cancer
  • Three or more cases of cancer on the same side of your family, with at least one being ovarian cancer
  • At least one female with two or more primary cancers with one of the primaries being ovarian cancer
  • Two or more cases of cancer with at least one being ovarian cancer diagnosed at an early age of onset (45 years old or younger)

Women over age 18 with a family history of ovarian cancer that meets one of the above criteria are encouraged to join the Registry. For more information, call 1-800-OVARIAN (1-800-682-7426) weekdays from 9 a.m. - 5 p.m. EST.