Familial Breast-Ovarian Cancer Syndrome

There are two known breast cancer genes, BRCA1 and BRCA2. Approximately 1 out of every 500 people has a mutation in one of the known breast cancer genes. Both men and women can carry these mutations and have a 50 percent chance of passing the mutation on to each of their children.

Among women in the United States, approximately 10 percent will develop breast cancer and almost 2 percent will develop ovarian cancer during their lives. In contrast, women with familial breast-ovarian cancer syndrome have up to an 80 percent lifetime risk of developing breast and/or ovarian cancer.

In certain ethnic groups, the rate of the mutation is greater. For example, 1 out of every 40 Ashkenazi Jewish individuals carries these mutations.

Individuals concerned about a personal or family history of breast and/or ovarian cancer should talk with their physicians about genetic counseling, and possibly genetic testing. Genetic testing is performed by using a blood sample and usually begins by focusing on a family member who has been diagnosed with breast or ovarian cancer. If a mutation in either BRCA1 or BRCA2 is found, other family members can be tested to see if they also inherited the same mutation.

Women with mutations in the BRCA genes are also at increased risk for cancers in the fallopian tubes. Men who inherit the BRCA2 mutations are at increased risk for developing breast cancer. Some other cancers also are diagnosed more often in individuals who carry BRCA2 mutations. These cancers include pancreatic cancer, prostate cancer and melanoma.

Screening and Prevention Recommendations for Women with BRCA1 or BRCA2 Mutations:

  • Perform monthly breast self-examinations starting at age 18.

  • Have a breast screening with annual mammogram and breast MRI starting at age 25-30.

  • Have a gynecology exam 1-2 times per year.

  • Be aware of the symptoms of ovarian cancer that include:

    • Bloating
    • Pelvic or abdominal pain
    • Difficulty eating or feeling full quickly
    • Urinary symptoms (urgency or frequency)

    • Women with ovarian cancer report that symptoms are persistent and represent a change from normal for their bodies. The frequency and/or number of symptoms are key factors in the diagnosis of ovarian cancer. Women who have these symptoms almost daily for more than 2-3 weeks should see their doctor, preferably a gynecologist.

  • Have both a transvaginal ultrasound and the CA 125 blood test two times per year starting at age 30-35 until the ovaries and fallopian tubes are removed.

    Transvaginal ultrasound: This is a test in which a special wand is inserted into the vagina. The wand provides pictures that can show if there are tumors in and around the ovaries. It is most often used to evaluate pelvic symptoms. For some women at very increased risk of ovarian cancer, it may be useful as part of an ovarian cancer risk-reduction program. Because this test is frequently abnormal even when there is no cancer or other medical concern, it is not recommended as a routine ovarian cancer screening tool for women at average or slightly increased risk in the absence of symptoms.

    CA125 blood test: This test measures the level of a protein released by some ovarian cancer cells into the bloodstream. For women at very increased risk of ovarian cancer, regular measurement of CA 125 is sometimes used to help screen for ovarian cancer. Because the CA 125 protein is also frequently released by other normal cells, CA 125 testing is not recommended for ovarian cancer screening for women at average or slightly increased risk who do not have symptoms.

  • Consider using birth control pills if you are still menstruating. Studies have shown that taking birth control pills for at least five years can reduce the risk of ovarian cancer by 50-60 percent.

  • Undergo preventive removal of breast tissue (mastectomy), and/or ovaries and fallopian tubes after you after childbearing is done.