Decades after being tested for hereditary risk, two women — who had the same doctor — discovered they got the wrong results.
Maureen Boesen and Connie Busch are forever connected, but it’s not the type of bond either would ever have imagined. Each learned years after participating in a genetics study at Creighton University, led by Dr. Henry Lynch in the mid-1990s, that the test results to determine their cancer risk were wrong.
Boesen was told she was BRCA1 positive and elected to have a double mastectomy; years later, she found out she was misdiagnosed when she retested before having her ovaries removed and notified Creighton University about the error in her case. Busch was told she was BRCA2 negative, but after her brother died of breast cancer and was found to be BRCA2 positive, she retested and was shocked to learn that she was, too.
Both gene mutations are associated with an increased risk of breast and pancreatic cancers in men and women. Women also have a higher risk of the ovarian, fallopian tube and peritoneal cancers; men, of prostate cancer.
In an interview for CURE ®, Boesen asked Busch about her recent discovery. Although they both consider Lynch a pioneer in genetics for his time, the research is ever-evolving, so they want to raise awareness for others.
BOESEN: For about 20 years you thought you were BRCA2 negative. Then last year, you got retested and found out that you are BRCA2 positive. What was your immediate reaction when you found out the results were wrong?
BUSCH: Initially, I was very skeptical of the new results. My provider was not very familiar with the testing. My first reaction was “I think she’s reading that wrong. Let me see the test. Let me see what it says.” She said, “OK, certainly.” Then she showed me my report, and it was pretty clear. I was quite shocked. I was expecting it to be negative, like my first test from Dr. Lynch.
BOESEN: It’s been about nine months since you found out. Could you describe your emotional state during that time?
BUSCH: It’s been kind of a roller coaster. I was going off of my memory, and I was like, “I know Dr. Lynch told me I was BRCA negative.” I had to dig up my paperwork that he gave me and reread the letter and just reiterate in my head that I was remembering correctly, because it was so long ago.
I dug out my paperwork and it was exactly like I remembered. It said that I was negative, and so my first instinct was “I have to try to contact Creighton and ask them some questions about the study and how it could be possible that my original test results were incorrect.”
BOESEN: When you contacted Creighton University, how did they react?
BUSCH: The first thing they said was “OK, we need you to sign a consent before we can talk to you about any of this.”
I had to go through the formality, so it took me a few days to track down the correct person. I left several voicemails before someone called me back. The institution didn’t really apologize and didn’t give an explanation of what could have happened, other than saying that I was negative for the gene that they had tested for, but maybe I was just unlucky and have a different gene mutation from what they were looking for or maybe I had a variant of unknown significance back then.
Initially, I decided that I trusted that information. They told me that they were going to let people who were in the study know that they need to seek retesting because the technology has changed so much, and that it would be rolling out by the end of summer.
BOESEN: It wasn’t too long after you contacted Creighton that you found out about my story. What were your thoughts?
BUSCH: When I came across your video, my mouth dropped open. I thought, “Oh my gosh, there’s someone else just like me.” My first thought when I found out I had wrong results from Creighton was that it was an isolated error, a mistake, and I can accept that. It happens.
I understand. But to be told by Creighton that they didn’t think there was a problem with their testing methods and then come across you and you already had notified them at that point ... I felt like I was being misled by Creighton. I was kind of angry. I thought, “If there’s two of us, maybe there’s more.” I felt like it was sort of my responsibility to try to get the information to people.
BOESEN: The next step for you is having a prophylactic double mastectomy. How are you feeling about that?
BUSCH: I’m very content in my decision because I know that it’s the best thing. If I can take my developing breast cancer chance down to nearly zero and I have the power to do that
by having surgery, I think that’s what I need to do. I know how devastating cancer is, any type of cancer. It’s hard not only on the patient but also on the whole family. If I can avoid that by doing a preventive mastectomy, then that’s the right thing to do.
BOESEN: Do you plan to undergo other preventive surgeries or surveillance with a provider?
BUSCH: I have had a hysterectomy and oophorectomy. I’m past childbearing age, so it’s not quite as devastating for me as for a younger woman.
BOESEN: How has the new test result affected your life?
BUSCH: It’s given me the information I need to give to my children so that they can get tested, but it also is helping extended relatives and those who were originally a part of the study, like I was. I’ve reached out to them, and several are also seeking retesting. As a mammographer, I also think it’s helping my patients. If they have questions, I feel like I have firsthand knowledge that I can give them.
BOESEN: Is there any advice that you would offer?
BUSCH: Don’t be afraid of information. For me, knowing is better than not knowing. Sticking your head in the sand is not going to get you anywhere. If you have the information upfront, you’re making the decision, you’re not letting cancer make that decision for you.
BOESEN: For you, your family, your children and their children — it goes far beyond just us.