A BRCA Mutation Means Decisions for the Whole Family to Make
Below, Amy Andersson writes about her experience with breast cancer and genetic testing. Amy will be a panelist at Living Beyond Breast Cancer’s upcoming Breast Cancer 360 program, A Family Affair: Hereditary Breast Cancer and You. Join us for this free program in person or via live web stream on April 5, at 6 p.m. E.T.
My paternal grandmother died from breast cancer when she was 80. When my father was in his 60s, he was diagnosed with breast cancer – yes, my FATHER! He had a radical mastectomy and is a 20+ year survivor! I was diagnosed with stage IIIC breast cancer in 2006, at the age of 46.
Eleven years ago, when I was diagnosed, it took almost 10 weeks to get the genetic results and my surgeon wanted me to have surgery almost immediately to take care of the cancer. As it turns out, the cancer was even more aggressive than anticipated and there was full lymph node involvement. So, I did have the genetic testing, but after my surgery, which was a lumpectomy, and only after I started the chemotherapy.
When I got the results of the genetic testing, saying I had a BRCA2 mutation, it was almost a given. With the clear lineage of the disease – paternal grandmother, father, and now me, it was not a shocker. What was a shocker, however, was that this mutation also comes with a very high estimated chance for getting ovarian cancer. Working with the genetic counselors, I opted for the ovaries to be removed after I finished the chemotherapy and radiation related to the actual breast cancer treatment. I decided not to get a preventive mastectomy. Instead, I’m monitored every 6 months with an MRI and mammogram.
How did I tell my children, my siblings and my parents? I told my children, aged 18 and 15, about the family history and the strong likelihood that I had passed this genetic mutation onto them. My son was at first flippant, – saying “men don’t have breasts. They don’t get breast cancer” – totally forgetting that his grandfather is a survivor.
My daughter was very thoughtful and wanted to get tested immediately. She, however, was just starting college and dealing with a lot of emotional issues herself. My daughter, her father and I agreed not to have her tested until she could emotionally handle the outcome. But then, and over the years, we talked about what the options were if she did have the genetic mutation or if she did not have the genetic mutation. Both situations deserved full thoughts and follow through.
Shortly after graduating from college, my daughter was tested and found positive for the genetic mutation. This meant she had an 84 percent chance of getting breast cancer in her life – 84 percent! Almost a full guarantee. That is why she had a prophylactic mastectomy at the age of 23. She is very happy with that decision, although some people were very vocal in their opposition to that decision.
My son knows about the genetic testing availability and has no desire to be tested – he will be monitored for the diseases as he gets older. He is not sure what changes he would make if he has the genetic information.
I told my siblings (I have four brothers and one sister and we are all very close in age) and encouraged them to get the testing done, knowing from experience that the insurance companies would pay for the testing. Not one opted for the testing. The main excuse is their personal belief that if a mutation is found, the insurance companies could deny coverage or charge very high insurance premiums to cover the potential of cancer.
[Editor’s note: In October 2016, genetic counselor Marianne Lotito, MS, LCGC, told LBBC “Questions regarding privacy of genetic information are quite common, and often people will worry that genetic information will affect their health insurance and employment. In May of 2008, a federal law called the Genetic Information Nondiscrimination Act (or GINA) was signed to prevent discrimination from health insurers and employers. GINA prohibits health insurers from using a person's genetic information to determine eligibility, premiums or rates for both group and individual plans. GINA added to strong legal protections that were already in place on both the state and federal level.”]
I am very happy with my decision to have genetic testing and the monitoring that I have in place. I believe genetic testing is a very personal decision that involves the person and the entire family. The knowledge gained can be helpful – however, it is important to understand all the ramifications of having that knowledge, because it is just one piece of the medical makeup of the person. If a mutation is found, does the person have preventive surgery or increased monitoring? Or do they do nothing? Or what? Again, it is a personal decision that must be made with the person, the family and the medical community.
Amy Andersson is 57 years old. She lives in Berwyn, Pennsylvania and works as a business consultant. After being diagnosed with stage IIIC hormone receptor-positive breast cancer in 2006, Amy had genetic testing and learned she had the BRCA2 mutation, which increases a person’s risk of breast, ovarian, prostate and other cancers. Amy is a panelist for LBBC’s upcoming Breast Cancer 360 program, A Family Affair: Hereditary Breast Cancer and You, free in person and via live web stream April 5 at 6 p.m. E.T.