Genetic Counseling Can Help Identify Clues
Confusion and fears surrounding breast cancer abound. While researchers have long since put some myths to rest -– such as ideas that using anti-perspirant, drinking caffeine, and wearing an underwire bra will all increase your risk -- others issues related to breast cancer risk aren't quite so black and white. This is especially true when it comes to family history. If your mother, grandmother, or aunt -– or all three -- had breast cancer, for instance, does that mean you’ll get it too?
Not necessarily. People with multiple cases of breast cancer in their history do have an increased risk, but it’s not as simple as that. Many factors can affect the inherited genetic risk for cancer, including the number of cases of cancer in a family history, the kinds of cancers, and ages of diagnoses.
This is where genetic counseling can help. Genetic counselors are trained to examine a person’s family medical history, looking for particular patterns that may point to potential genetic health risks.According to Jill Stopfer, a certified genetic counselor at Penn’s Abramson Cancer Center, their process starts by creating a three-generation family tree of medical information. Clues based on the pattern of cancers in the family –- as well as additional information gleaned from the initial visit -- help zero in on a suspected gene or genes that may call for formal genetic testing for things such as mutated BRCA 1 and 2 genes, which are tied to a much higher risk of breast and ovarian cancer than the general population. Patients who carry these genes have up to an 85 percent risk of developing breast cancer in their lifetimes, and up to a 63 percent lifetime risk of ovarian cancer, but preventive surgeries to remove a patient’s breasts and ovaries have been shown to drastically cut this risk. Genetic counselors can help patients decide if these options are right for them, and if so, when is the most appropriate time to undergo them, and educate them about early screening recommendations, such as starting to get mammograms beginning at age 25, and in some cases, adding breast MRI imaging.
Using information gained in her assessment, Stopfer helps women understand their risks of getting breast cancer, discussing appropriate genetic testing options as well as special screening and prevention strategies. “We want to help women make an informed, personal decision,” she said. Penn Medicine’s new Basser Research Center for BRCA, established this past summer through a $25 million gift from University of Pennsylvania alumni Mindy and Jon Gray, plays a huge role in helping this population, too. As the nation’s first center of its kind focusing on the treatment and prevention of cancers associated with the inherited BRCA gene mutations, the Basser Center unites researchers and clinicians who are working to find new ways to prevent these cancers, detect them early when they occur, and treat them in new, more effective ways. Last May, the New York Times detailed the work of the new center, illustrating how the studies being conducted by Susan Domchek, MD, the breast cancer physician and researcher who serves as the Basser Center’s executive director, and her team may help shed light on breast cancer biology in ways that can help all breast cancer patients.
Having a mutation or a strong family history of breast cancer doesn’t necessarily mean a person will develop cancer, but having this information is an important first step in finding ways to reduce risk. And everyone can lower the chances for developing cancer -- or increase the chance for an early diagnosis if they do develop cancer -- by following these steps:
- Get an annual mammogram, starting at age 40.
- Keep a healthy body weight, with a body mass index of 25 or lower, especially after menopause.
- Do monthly breast self-exams. A sizable fraction of breast cancers have been found by women during self-exam.
- Get regular exercise.
- Refrain from excessive alcohol consumption. While an occasional alcoholic beverage likely has little impact on breast cancer risk, women who consume 2-3 drinks per week consistently have higher risks for breast cancer.