genetic testing

Who Should Be Tested?

By Becky Powell, MS, RN, AOCN, Health Educator, Community Cancer Center
ack in May, you may recall the shocking announcement that Angelina Jolie had undergone a double mastectomy (removal of both breasts) and reconstructive surgery. Angelina Jolie did not have a cancer diagnosis but had tested positive for a BRCA1 gene mutation. Since that announcement, her image and story has graced the cover of many websites and magazines across the country. In making the choice to come public with this very private information, she has used her fame to help increase awareness about hereditary breast and ovarian cancer syndrome which may actually help save the lives of other women not aware of this hereditary condition. In 1994, scientists discovered two genes that, when mutated (or altered), greatly increase the risk of a person developing breast and/or ovarian cancer. The genes are known as BRCA1 and BRCA2. These genes give instructions for proteins to suppress tumor growth and to help repair damaged DNA. Both genes serve a protective function against cancer and are present in men and women. When a mutation in either gene exists, there is a higher risk of developing cancer. Although breast and ovarian cancers are the most common, other cancers may also result from a mutation in either of the genes. Everyone is born with two copies of approximately 25,000 genes. One copy comes from your mother and one copy comes from your father. With regard to breast and ovarian cancer, when a woman inherits a mutated (or altered) BRCA1 or BRCA2 gene from either parent, her risk of developing breast or ovarian cancer is significantly increased. Each child has a 50 percent risk of inheriting the mutation from a carrier parent. What most people do not know is that these mutations are very rare with approximately five to seven percent of women diagnosed with breast cancer having an altered gene or genetic mutation. This means for the vast majority of women, the risk factors for developing breast cancer are not genetic but rather come from other factors such as diet and lifestyle. So who should have BRCA1 and BRCA2 genetic testing? The National Comprehensive Cancer Network has established criteria for medical professionals to follow when recommending genetic testing for hereditary breast and/or ovarian cancer syndrome. Many insurance companies also use these criteria to determine if

it will be a covered benefit. You may be a candidate for hereditary cancer testing if you have/had: Breast cancer before age 50 Ovarian cancer at any age Both breast and ovarian cancer Male breast cancer at any age Two or more breast cancers in a family, one under age 50 Women of Ashkenazi Jewish descent with breast or ovarian cancer A previously identified BRCA mutation in the family Individuals should talk to their health care provider and be referred for genetic counseling to evaluate if they are a candidate for testing. A genetics professional (a certified genetic counselor or specially trained oncology nurse) uses a tool called a pedigree to record the family history to establish the pattern of cancer in the family. The session will also include discussion about the testing process; implications the test results can have on medical management, not only for the person being tested, but for family members if the test would come back positive; as well as the emotional impact if the person testing would test positive. The test requires submission of saliva or a blood sample submitted to a lab that offers this specialized testing procedure. Results generally take two weeks to complete. For more information, please visit www.myriadtests.com or the Community Cancer Center The Leader in Cancer Care at www.cancercenter.org or 309-451-8500.

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Page 52 Healthy Cells Magazine Bloomington October 2013

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