Decades after being tested for hereditary risk, two women — who had the same doctor — discovered they got the wrong results.

May 5, 2020 by Connie Busch

By Katie Kosko

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 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 ofmy 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.

To hear more from Maureen and Connie, check out the CURE Talks Cancer podcast at curetoday.com/podcasts/a-tale-of-two-misdiagnoses.

Response from Creighton University

Hereditary cancer research at Creighton University has spanned several decades and included collaboration with researchers around the world, where most of the actual laboratory testing took place, especially for BRCA mutations. When DNA sequencing became available, the Hereditary Cancer Center worked with collaborators to research this evolving field on a quest to not only prove certain cancers were hereditary but also let participants know their risk. This was cutting-edge research at the time and today is a standard clinical diagnostic tool.

Dr. Henry Lynch was a pioneer in the field of cancer and genetics, encouraging people to get tested to find their risk of certain cancers, challenging decades of medical orthodoxy that held that cancer was not a hereditary disease. Although the testing was not conducted at Creighton University, Lynch’s compilations of family medical history data over many years led him to identify cancer syndromes and their patterns of inheritance through generations of extended families.

Before DNA sequencing was available, the Hereditary Cancer Center and its collaborators in the ’90s used linkage analysis to study segments of DNA to look for mutations within a family. In so doing, researchers examined areas of the DNA they thought might carry the mutation; however, they were not sequencing the entire genome, which is standard practice today.

That means it is possible to have a negative linkage analysis and still carry a mutation. Many of the results from testing done in the ’90s or earlier were obviously based on the best scientific information available at the time. That is why we encourage anyone who has participated in research studies anywhere, not just at Creighton, to consider being retested, especially if their test was done more than 10 years ago. We encourage participants to talk with their physician or health care provider, giving the family history and the date the research test was done. A key question to ask is whether they should be retested, given the advances in clinical laboratory testing.

Research results and clinical diagnoses are not the same. Characterizing research results as a misdiagnosis is not accurate because research results are for research purposes only; information obtained from a research study should not be used for clinical decisions. All the research participants at Creighton are told in writing to get confirmation testing at a licensed clinical laboratory.

The university is aware of only one false test result out of the thousands of samples run by outside laboratories over the 50 years of Lynch’s research.

However, Maureen Boesen and Connie Busch’s stories point out the importance of taking control of one’s health, having those conversations with a physician or health care provider, and updating your clinical history.

 

Pictured at top, from left, are Maureen Boesen and Connie Busch.

Also pictured: Maureen Boesen holds her daughter, Susie, while on a trip to Clearwater Beach, Florida.