When Breast Cancer Is a Family Matter
- Dr. Holly Peterson
- Jul 30, 2024
- 4 min read
Updated: Oct 1, 2024
A Clear Guide To The Complicated & Controversial Issue Of Genetic Testing
Illustration by: Cé Marina
When her 60-something mom died of breast cancer in the late 1980s, Gail had a double mastectomy. Not a moment’s hesitation. Genetic testing for mutation of the BRCA gene hadn’t yet been introduced, but scientists had identified a link between genetics and breast cancer, and Gail wasn’t taking any chances.
If Gail was age 30 in 2024 and making this consequential decision, it wouldn’t be so quick and easy, despite the introduction of sophisticated genetic testing.
“The more you know, the more you realize what you don’t know.” wrote Aristotle, the Greek philosopher. Today we know how to test multiple genes for mutations that can increase a woman’s risk for breast, ovarian, pancreatic, colon, and uterine cancer, among others. What we don’t always know is the magnitude of the risk.
Even if genetic testing reveals a BRCA mutation, for example, it doesn’t mean cancer will absolutely develop. Other factors, including family history, ethnicity, gene:gene interactions, and lifestyle, also play roles.
The continually evolving relationship between genetic testing and breast and ovarian cancers is complicated and controversial. Not just to patients, but to health care professionals, too!
Testing Guidelines Are Confusing & Conflicting
If you haven’t been diagnosed with breast cancer, but your mother and aunt died from it, should you be tested? Will positive test results send you into panic mode, wondering whether you should have a mastectomy or complete hysterectomy, and be thrown into early menopause? Or do you do nothing, and continually live under a rain cloud that you’ll wake up one day with cancer? Will you be “advised” to have these surgeries, or will I have a choice?
Will a positive test lead your doctor to excessive monitoring and unnecessary preventive measures? Does the doctor even have the proper education and experience to make an informed decision about managing your situation?
If you have received a cancer diagnosis, why is your healthcare provider advising you to have genetic testing NOW!
Stop asking yourself endless questions. And, for goodness sakes, stop asking Google to find the right answers. Neither will do you a bit of good.
Dr. Holly Pederson, former director of Medical Breast Services at Cleveland Clinic, and Professor of Medicine at the Cleveland Clinic Lerner College of Medicine, managed for many years the care of patients with identified mutations that increased their risk for developing breast cancer. She also helps educate non-specialists, like primary care physicians, how to identify high-risk patients and determine how to best direct their cases. One of 24 esteemed M.D. For You Menopause Masters, Dr.Peterson’s numerous papers in medical journals are must-reads for these doctors.
Dr. Pederson’s papers offer essential recommendations for unscientific minds. We share them here for women who are concerned about having genetic predispositions to breast and ovarian cancers.
When Genetic Testing Is Advisable
Ask yourself three questions:
1. Is there too much cancer in my family?
2. Was anyone unusually young at diagnosis (breast cancer at age 50 or younger is considered “young”)?
3. Are there rare cancers in the family like ovarian, pancreatic or male breast cancer (all patients with these cancers should have genetic testing). Guidelines vary, but if you think there might be a suspicious family history, ask your healthcare provider about seeing a genetic counselor.
Screening could begin as early as age 25. If in doubt, the genetic counselor can help.
Remember, half of your genes come from your father’s side, where breast and ovarian cancer can “hide”. This is especially relevant in families that are small, with few women, or have Ashkenazi ancestry.
One-in-40 Ashkenazi Jews carries a BRCA mutation, compared to 1 in 260 in the non-Jewish population. Many healthcare organizations, including Cleveland Clinic, are offering anyone of Ashkenazi descent testing, whether there is a family history of cancer or not.
Why Test?
Testing can inform important decisions you and your family members make about screening, risk-reducing medications, and even risk-reducing surgeries. It can allow those without cancer to be maximally proactive.
Even if you’ve been diagnosed with cancer, genetic testing can help guide your treatment. Certain drugs, called poly-ADP ribose polymerase (PARP) inhibitors, target the defect in DNA repair of BRCA-positive tumor cells and are used to treat breast, ovarian, pancreatic, and prostate cancers in patients with BRCA mutations. Medical options can also treat mutations of the PALB2 gene.
How Genetic Testing Is Performed
A simple blood or saliva sample is sent to a specialized lab that performs next-generation sequencing on multiple genes linked with hereditary cancer. “Over-the-counter” tests may only cover a subset of the known genetic variants that contribute to human disease.
What To Do
Whether you decide to move ahead with testing or aren’t sure what to do, Dr. Pederson advises discussing your options with your healthcare provider, or a high-risk specialist. A good primary care doctor may not have all the answers but will know where to find them.
Physicians with vast experience and knowledge will help you understand the different tests; the potential results and how to interpret them, and your options, from “watchful waiting” to risk-reducing surgery. They also will advise you about the implications of your decision, such as what will happen after you undergo a total hysterectomy at age 43, for instance.
You may adore your long-time OB-GYN, who helped you through a difficult pregnancy, and your primary care doctor, who has treated you for pneumonia, strep throat, and dangerous cholesterol levels. But, in this era of highly specialized medicine, it makes sense to consult with providers who are intensely involved with the issue affecting you. Genetics can be complex and nuanced, and a specialist can help.
Your OB-GYN should have a thorough accounting of your personal and family history, and assessment of other cancer risk factors, updated regularly, Dr. Pederson writes. Armed with this information, a genetic counselor can help your family determine whether genetic testing would be recommended, and who would be the best person to test.
Comments