October is National Breast Cancer Awareness Month, and it always makes me think about my Grandma Fritsch. She passed away when I was 16. I didn't know much about her battle with breast cancer because she was so private, and she was diagnosed when I was so young.
Grandma Fritsch was diagnosed earlier in her life, went into remission, but sadly, the cancer came back again later in her life. Over the course of her life, she had both ovarian and breast cancers. This has always worried me, and I've often wondered if I would develop these types of cancers.
I also have a daughter. Will she get either of these cancers? Your family history has so much to do with your health, but what sort of family history do you have to have before you wonder about genetic counseling?
I reached out to The Christ Hospital's Dr. Jennifer Manders, a board-certified general surgeon fellowship-trained in breast surgery to find out more.
Should I get genetic testing for breast cancer?
Since I have a family history of breast cancer, I wanted to know what kind of family history suggests a meeting with a genetic counselor.
Dr. Jennifer Manders said, “Usually we look for a pattern of cancers within a family, i.e., at least three generations with several family members within each generation affected with cancers. Exceptions to that rule are families with few members in each generation (only children, no children, etc.) or certain types of cancers diagnosed at an early age. The American Society of Breast Surgeons recommends genetic testing in all women with a new diagnosis of breast cancer, regardless of their age at diagnosis."
When it comes to breast cancer, I've always heard talk about the BRCA gene, but didn't really know what it was or why it was so important in detecting breast cancer.
Dr. Manders said, “The BRCA gene is actually two genes: BRCA1 and BRCA2. These were the first genes identified in which mutations (changes in the DNA 'spelling' or sequence) led to a high risk for developing breast and ovarian cancers."
Turns out, if you're of Ashkenazi Jewish heritage (Eastern European descent), then the risk is 1 in 40 of having a mutation within one of these two genes. For the rest of the population, the chance is about 1 in 400.
Genetic testing and counseling for breast cancer
Once you figure out if you should get the testing or not, moving on to the testing process seems pretty easy. Dr. Manders said, “Testing is usually a blood test or a swab inside the mouth. Both of those methods may acquire enough cells to be able to isolate the DNA and sequence the genes, looking for one of the known mutations that cause cancer. Most of the tests take about 2-3 weeks to get results.
“As important as the testing is, a counseling session is even more important," Dr Manders continues “The counseling session will explain what it means if a gene mutation is present or not present, what cancers a person might be at risk for and what options there are to monitor for or prevent the cancers. Nowadays, we usually test for several genes at once, called 'panels of genes.' There are more than 90 genes that have been identified that can increase a person's risk for all kinds of cancer."
After the testing is finished—and if you receive a positive result on one of your “panels of genes"—a genetic counselor or oncology specialist is your next stop. This will be such a big change to your life, and it's important that you're meeting with the right people from The Christ Hospital.
Dr. Manders said, “The genetic counselor and/or oncology specialist will talk with the patient about what their options are, and then the patient can make important decisions about what steps they would like to take (or not take) to decrease their risks. Sometimes, patients do not want to know this information about themselves and opt not to test. It's important to understand that this is a valid choice, too. Not everyone wants to know this information and may not want to take additional steps to prevent future disease. The decision to test or not is a very personal one, and we have to respect their decision, even if we would have made a different one for ourselves."
Check back in with your provider
Once the testing is finished, you might think that you're finished forever, but that's not necessarily the case. Medical advances happen every day. Dr. Manders said, “If we think about the progress over the last 30 years—from only having information about BRCA1 and BRCA2 to now knowing about more than 90 genes, chances are that we will discover hundreds of additional genes in the future. It's good to check back in with your oncology provider every five years or so, to consider additional testing if new genes have been identified. We are frequently requesting additional testing for patients with negative tests in the past, especially those who were tested 5+ years ago."