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The Sidney Kimmel Comprehensive Cancer Center

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Genetic Testing and Risk Assessment

Most women experience one or more of these symptoms from time to time, and only rarely do they indicate ovarian cancer. And remember – if you have ovarian cancer, and it is caught early, survival chances are excellent.

Ovarian Cancer Prevention

Since the causes of ovarian cancer are unknown, prevention is impossible. But women can take some steps to reduce their risk.

Genetic testing

Although the issue is controversial, women with a strong family history of ovarian and/or breast cancer may consider genetic testing to determine whether they have a mutation in BRCA1, BRCA2 or the gene for hereditary nonpolyposis colon cancer. Genetic counseling can assess the family history and make sure it fits the pattern for hereditary cancer.

The first blood test is done on a relative with cancer to determine whether it is due to a genetic mutation or occurred spontaneously. If no affected relative is available or willing to be tested, blood from the interested woman will have to be examined for a mutation in all three of the suspect genes. Since there are at least 125 potentially cancer-causing mutations on BRCA1 alone, this process is both time-consuming and expensive. (The bill could run as high as $3,000 and may not be covered by insurance.)

If a mutation is identified, options are limited. A woman may opt to have her ovaries removed in a procedure called “prophylactic oophorectomy,” a course of action that doctors often recommend to high-risk women after they have made the decision to have no more children. Since a positive test also means a higher risk of breast cancer, these women will have to be monitored regularly with mammograms. Some women choose prophylactic mastectomies to reduce their risk.

Tubal ligation

Tubal ligation, a sterilization procedure in which the fallopian tubes are blocked or severed, appears to offer a small decrease in risk. Tubal ligation may decrease risk by preventing cancer-causing substances that may enter the body through the vagina from reaching the ovaries.


Removing the uterus also appears protective, perhaps for the same reason as for tubal ligation. When postmenopausal women undergo hysterectomies, doctors often recommend removing the ovaries as a precaution, regardless of their risk.

Prophylactic oophorectomy

High-risk women, particularly those who test positive for a genetic mutation, may want to consider having their ovaries removed after they have decided to have no more children. While the surgery may provide peace of mind, it doesn’t guarantee that cancer won’t develop. In rare cases, women who undergo this operation later develop an abdominal malignancy, called primary peritoneal cancer, that is indistinguishable from ovarian cancer and usually cannot be detected until it is far advanced.

Oophorectomy is usually an outpatient procedure that uses the minimally invasive technique of inserting a laparoscope through tiny abdominal incisions. In premenopausal women, removing the ovaries results in instant menopause, complete with hot flashes, an increased risk of heart disease and the accelerated bone thinning that can lead to osteoporosis.

Breaking the cycle of ovulation

There are good data showing that women who use birth control pills for five years or more cut their risk of ovarian cancer in half. The theory is that lifetime risk is proportional to the number of times a woman ovulates. Pregnancy and, to some extent, breast-feeding suppress ovulation. Birth control pills work the same way.

-Used with permission from HopkinsHealth, copyright Johns Hopkins

Genetic Counseling and Risk Assessment Services at Johns Hopkins

The Johns Hopkins Breast and Ovarian Surveillance Service (BOSS) can help you find the answers to your questions and help you understand what your risks are. Our caring and expert team of physicians, genetic counselors and nurse practitioners can put this information into perspective for you and help you use it to your best benefit. Our expert team will:

  • review your family history and other risk factors
  • provide individualized risk assessment
  • perform a clinical breast exam and instruct you in breast self-exam
  • discuss and offer genetic testing to evaluate inherited cancer susceptibility
  • provide individualized cancer prevention and screening information

To make an appointment with the Breast and Ovarian Surveillance Service (BOSS), contact Linda Thompson, BOSS Referral Coordinator, at 410-502-7082.  She will obtain the appropriate information about you and schedule an appointment for you.

A pre-visit questionnaire and family history form will be sent to you to be completed prior to your visit. Information on the clinic location, directions and parking will also be sent to you.

The BOSS Team

Jennifer E. Axilbund, M.S., C.G.C.

Susan Appling, R.N., M.S., C.R.N.P.

What You Should Know About Genetic Testing

If someone with a significant family history of breast and/or ovarian cancer is interested in genetic testing, it is recommended that a relative who has had breast or ovarian cancer be tested first. If a family member with cancer is tested and found to have an abnormality in one of these genes, other relatives with or without cancer may be tested for the specific alteration identified. If a family member without cancer tests negative for the gene change that is known to be present in the family, the chance for developing breast or ovarian cancer is probably no higher than the risk faced by an individual without a significant family history. If the family member without cancer tests positive, the risk for developing breast or ovarian cancer is substantially increased, but not 100%.

Genetic testing can often provide valuable information about an individual’s risk for cancer. This information may be used to develop a management plan that includes more screening in an effort to detect cancer early and effectively treat it. Genetic testing may also reveal who in a family does not need such intense screening. Unfortunately, there are currently no known methods to prevent cancer in those who test positive. However, there are ways to reduce the risk of cancer, such as prophylactic surgery. Regardless of the result, genetic testing has the potential to provide some information about cancer risk.

There are also certain risks associated with genetic testing for cancer susceptibility, including the possibility of insurance or employment discrimination. There are some federal and state laws designed to lower the risk of insurance discrimination, but they only pertain to specific types of insurance. Other risks of genetic testing are adverse psychological reactions and disrupted family relationships. An individual who tests positive may experience anxiety, guilt, depression or fear. Family members may have similar feelings, which could cause strain between relatives.

Because the majority of cancers are not due to inherited susceptibility, only certain individuals are appropriate for genetic testing. Individuals who might consider genetic testing include a woman with ovarian or breast cancer before menopause who has a family member diagnosed with pre-menopausal breast cancer or ovarian cancer at any age; a woman diagnosed with both breast and ovarian cancer; a woman with pre-menopausal breast cancer or ovarian cancer who is of Ashkenazi Jewish descent; or a relative of an individual with an identified BRCA1 or BRCA2 mutation.

Genetic testing tends to be quite expensive, and usually costs $2800 for the first family member tested. If a mutation is identified, testing of other family members for the identified mutation is approximately $350. For Ashkenazi Jewish individuals, testing is more straightforward, and costs about $400. Many insurance companies cover the cost of genetic testing, though most companies require that the family history meet specific requirements.

Individuals considering genetic testing are encouraged to meet with a genetic counselor to discuss the benefits, risks and limitations of genetic testing in detail. The genetic counselor will also determine the likelihood of detecting a genetic alteration in a specific individual or family, and discuss management recommendations. Genetic counseling is available through the Breast and Ovarian Surveillance Service.


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