Gene mutations, which are harmful changes in genes, can affect our cells’ ability to know when to stop dividing or growing. As a result, cells may grow out of control and become cancerous. The gene mutations that cause cancer can occur randomly, be related to the environment or be passed from one generation to the next. It is important to keep in mind that only 5 percent to 10 percent of cancer is caused by an inherited (hereditary) gene mutation, but when genetic mutations are inherited, they cause a much higher risk for cancer.

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Signs of a possible hereditary gene mutation

If you or a family member falls into one of these categories, you may be a candidate for genetic counseling and testing for hereditary gene mutations.

• Young age of cancer diagnosis (especially age 50 or younger)
• Multiple family members on the same side of the family with the same cancer or related types of cancer
• Individual with multiple primary cancers (such as colon cancer and uterine cancer, or bilateral breast cancer)
• Rare cancers (such as male breast cancer) or cancers known to have a stronger genetic link (such as ovarian cancer)
• Other features linked to hereditary gene mutations (such as many colon polyps or specific skin findings)
• Eastern European Jewish (Ashkenazi Jewish) ancestry with a personal or family history of breast and/or ovarian cancer

Seek qualified genetic counseling

Amanda Eppolito, M.S., C.G.C., a certified genetic counselor at Piedmont, encourages patients who have questions about genetic testing to contact their physician or a genetic counselor.

“Reviewing a patient’s personal and family medical history, assessing if and what genetic testing may be beneficial, as well as discussing benefits, risks and limitations of genetic testing should all be part of the pre-test conversation,” she says.

If a patient tests positive, the genetic counselor or ordering healthcare provider can help connect him or her with a specialist who will develop a plan for increased cancer screening and/or risk-reduction measures.

Latest trend in genetic testing

Although genetic testing for hereditary cancer has been available for decades, now there are many new genetic tests available.

“Genetic testing is now more than just BRCA1 and BRCA2,” Eppolito says. “There are many other cancer susceptibility genes we now know about and can test for. However, we do not know as much about many of these newer genes as we do about BRCA1/2. Therefore, interpreting newer genetic test results can be much more complex. As a genetic counselor, I am here to help walk you through genetic testing options and review what test results mean for you and your family,” Eppolito says.

The Piedmont genetics team can help you and your family members learn the facts about genetic testing. Contact Piedmont Clinical Genetics Department at 404-425-7949 for more information.