Genetic Testing for Breast and Ovarian Cancer

Approximately 5-10% of cancer is believed to be hereditary, while the majority of cancer is sporadic, or non-hereditary. With hereditary cancer, an individual inherits a genetic alteration (mutation) that increases his or her susceptibility to a particular type of cancer. Some genetic alterations are associated with more than one type of cancer, while others are limited to a single type.

Who Should Be Tested?

Two genes have been identified that increase an individual’s risk for breast and ovarian cancer. They are named BRCA1 and BRCA2 because of their association with breast cancer. Genetic testing is currently available to determine if a person has inherited a mutation in either of these two genes. However, genetic testing is only appropriate if an individual or family has certain cancer "characteristics." One such characteristic is an individual with breast cancer diagnosed before age 50 years, or with ovarian cancer at any age. Another is breast cancer diagnosed in more than one relative on the same side of the family (it can be either the mother’s side or the father’s side). A third is more than one cancer in the same person, such as cancer in both breasts or cancer in the breast and the ovary. And a fourth characteristic is a male with breast cancer.

Genetic testing is most informative if one begins with an individual affected with breast or ovarian cancer. By doing so, it is possible to determine if BRCA1 and BRCA2 are the correct genes to test in a particular family, as these two genes do not cause all breast and ovarian cancers. If a mutation is detected in an affected individual, then other family members can be tested for the specific mutation identified. If a tested individual has the family mutation, he or she is at increased risk for cancer. If a tested individual does not have the family mutation, he or she has the same cancer risk as the general population.

What Is Involved?

Genetic testing for BRCA1 and BRCA2 is a blood test that takes approximately four weeks to complete. Sometimes insurance covers the cost of the test and other times the patient is responsible for payment. The cost of the test depends upon the type of analysis performed, and can range from $300 to as much as $2700.

For an individual considering genetic testing, genetic counseling is required beforehand. The genetic counselor will help to determine if BRCA1 and BRCA2 testing is appropriate for a particular individual or family, and will discuss the risks, benefits and limitations of such testing. To locate a genetic counselor, please contact MACGN toll free at 1-877-880-6188.

Jennifer E. Sollenberger, M.S.