In my role as genetic counselor, I meet with men, women and families who have personal or family histories of cancer. I take a detailed medical and family history, assess the chance for an hereditary risk for cancer, and recommend appropriate genetic testing. Genetic testing can help identify what that “hereditary factor” is. When the results come back, I interpret them in the context of the family history and help make screening and management recommendations.
Inevitably, the following statement would come up in discussion:
“…and if you carry one of these BRCA mutations, it means that there’s a 50/50 chance that you could have passed it on to your kids…”
That’s the worst part, by far, of my genetic counseling sessions with women who have personal histories of breast or ovarian cancer.
By the time they meet with me, they’ve already started working through some of the issues of accepting a cancer diagnosis and are taking steps towards treatment and, hopefully, recovery. I’m the one who reminds them that this isn’t just about them. I explain that their cancer diagnosis might have resulted from something hereditary that put them at an increased risk for cancer, something that they also could have passed down without intending to. I remind them that it’s not just about their cancer diagnosis; it’s about their daughters’ and granddaughters’ cancer risks in the present and future. I see their faces drop as they start to think about the legacy they may have passed down, one that they wish had stopped with them.
Hereditary cancer risk exists in all populations, but certain types of hereditary cancer risk are more common in the Ashkenazi Jewish population, and this is, unfortunately, a legacy which we need to acknowledge.
Breast cancer is alarmingly common, affecting one in eight women in the United States. Ovarian cancer is less common: it “only” affects one in 70 American women. A diagnosis of breast cancer or ovarian cancer in a family does not automatically point to a hereditary etiology, in fact, most cancers are not hereditary. However, when there are multiple cancer diagnoses in a family, at young ages and with Ashkenazi Jewish ancestry, there is a drastically increased suspicion of BRCA1/ BRCA2—associated Hereditary Breast and Ovarian Cancer.
The role of the BRCA1 and BRCA2 genes in the body is in part to protect us from cancer. However, when there is a mutation or an error in one of these genes, that protection from cancer is diminished. Without the necessary protection, these individuals have much higher cancer risks, up to an 87 percent lifetime risk to develop breast cancer, and up to a 44 percent lifetime risk to develop ovarian cancer.
We are more likely to see BRCA-related cancers develop at younger women, in their 30s and 40s. But the BRCA mutations don’t impact only women—men with BRCA mutations have an increased risk for cancer as well.
As an educator, I speak with communities about family histories and cancer risk. I see women realizing for the first time that they and their families may be at an increased risk for cancer. You see, BRCA mutations are more common in the Ashkenazi community in general. One in 40 individuals of Ashkenazi descent carries a BRCA mutation, regardless of their personal or family history. Once there is a personal or family history of cancer, the chance of carrying a BRCA mutation goes up.
Why would genetic testing and the knowledge of hereditary cancer risk be helpful? In my mind, the clear and obvious answer is: if you know that you are at a high risk for cancer, you can do something about it. More intensive breast and ovarian cancer screening regimens are recommended for women who have BRCA mutations.
These women may also decide to pursue preventive surgical options.
The goal of screening regimens is to catch cancer at an early and treatable stage, whereas preventive surgeries are aimed at reducing the cancer risks. There are even ways to prevent BRCA mutations from being passed on to future generations.
These screening, surgical and reproductive options involve highly personal decisions—but they can be lifesaving decisions. Perhaps that’s the legacy we want to pass on, not one of acceptance of our “genetic fate,” but one of being proactive and taking control of the course of our fate.
This Mother’s Day, speak with your mother, and the other mothers in your life, about the legacy that you want to pass on to your children.
About the Author: Chani Wiesman Berliant, MS, CGC is a genetic counselor with the Program for Jewish Genetic Health of Yeshiva University/Albert Einstein College of Medicine and the Division of Reproductive Genetics at Montefiore Medical Center. To learn more about hereditary breast and ovarian cancer and other Jewish genetic health issues, visit the Program for Jewish Genetic Health’s new GeneSights Jewish Genetics Online Series at www.genesights.com.
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