Genetic testing for breast cancer

With October recognized across the country as National Breast Cancer Awareness Month, increased attention has been brought to a variety of breast cancer related issues. Among these is genetic testing, which can help identify individuals with an inherited predisposition to the disease. Though the cause of most breast cancers is unknown — lifestyle choices, environmental exposures and other factors may all play a part in causing the disease to develop — approximately 5 to 10 percent of people with breast cancer may carry an inherited genetic mutation. Genetic testing can be used to help identify these individuals. The following provides information about the genetic counseling process and programs available at the Massachusetts General Hospital Cancer Center.

Who should undergo genetic counseling?
Those who have a history of any of the following should consider genetic counseling: a personal or family history of breast cancer before age 45; a personal history of two or more breast cancers; two or more close family members with breast cancer; or a personal history of breast cancer along with at least one close family member with the disease.

How does genetic testing work?
At the Cancer Center, all genetic testing is performed through the Center for Cancer Risk Assessment. Paula Ryan, MD, PhD, serves as director of the Breast and Ovarian Cancer Genetics and Risk Assessment Program. The program's genetic counselors include: Lauren Carpiniello, MS, CGC; Gayun Chan-Smutko, MS, CGC; Devanshi Patel, MS, CGC; and Kristen Shannon, MS, CGC. When a patient chooses to receive genetic counseling at the center, he or she first meets with a genetic counselor who performs a risk assessment to determine the likelihood that there may be a genetic component to the cancer. If the patient decides to have the test, the counselor arranges for a blood sample to be drawn and analyzed for gene mutations related to hereditary breast cancers.

What happens if the test is positive for a genetic mutation?
The Cancer Center staff take a comprehensive approach to care. If a patient
receives a positive test result, the implications are discussed in detail with the genetic counselor. The patient is then seen by a variety of specialists as needed from the MGH Gillette Center for Breast Cancer, where cancer screening and prevention options are discussed. As the patient receives treatment, he or she has access to an array of supportive resources, including support groups, a fatigue clinic, yoga classes tailored to breast cancer patients and meditation workshops. Genetic counselors also remain available as an additional support, providing information about test results and future implications.

For more information about genetic testing at the Cancer Center for breast cancer or other cancers, visit www.massgeneral.org/cancer/care/adult/risk/index.asp.