Family Business

January 22, 2013

Roselie Backer Thompson figured it wouldn’t be easy getting her 11 siblings to agree on the family reunion. She and her five brothers and six sisters had reunions before, often with more than 100 relatives. But this one would be different. Backer Thompson would be bringing with her a medical research team led by Saint Luke’s Cancer Institute.

Getting personal with P53

This most unusual family reunion would be a first for Saint Luke’s and a milestone in the research related to a rare cancer-causing genetic mutation. Doctors and genetic counselors from Saint Luke’s and M.D. Anderson Cancer Center would be taking blood samples to see which family members had the P53 gene that was previously found in Backer Thompson.

The P53 gene is associated with a rare cancer predisposition syndrome known as Li-Fraumeni Syndrome, or LFS. Experts once thought it was present in fewer than 400 people, but they now believe LFS is significantly under diagnosed. The prevalence is more along the lines of one in 5,000 to one in 10,000 people.

Named after the two medical researchers who discovered the disorder, LFS puts a person at risk for contracting many types of cancer. Breast, bone and soft-tissue sarcoma, brain leukemia, and adrenocortical carcinoma are some of them.

Backer Thompson has already had three kinds of cancer in three years: breast, melanoma, and soft-tissue sarcoma.

It was while she was recovering from cancer surgery at Saint Luke’s that a genetic counselor at the Hereditary Cancer Program talked to Backer Thompson and her husband about reaching out to her family members.

Boosting the database

Having three generations in one family to test will add significantly to the LFS database and help advance the research into the syndrome.

Backer Thompson herself might have been among those missed at one time. The early findings on LFS suggested that people with the gene would get their first cancer in childhood. Yet Backer Thompson’s cancers didn’t appear until she was in her 50s—a helpful finding already.

And Backer Thompson is not the first in her family to have cancer. She’s lost two sisters and a brother to the disease, and her father died of leukemia.

The 620-mile house call

There was just one catch as far as the reunion. Backer Thompson lives in Kansas City. All her siblings live in Fargo, N.D. So the Saint Luke’s and M.D. Anderson team decided to travel the 620 miles to Fargo.

Provided, that is, they were invited.

“It took me a long time to ask my family to be part of the study,” confessed Backer Thompson, who wondered whether they would view her simply as the bearer of bad news. “But I talked to a couple of my sisters and my oldest brother, and they encouraged me to open it up to the family.”

Last July they all met in Fargo, at one of their brothers’ houses, where a big potluck lunch was waiting. Some family members were hesitant at the beginning—did they really want to know whether they had the gene? But as the reunion got into full swing, the more they learned about P53 and were able to voice concerns and ask questions, the more involved they became.

“One of my sisters-in-law even tried to get tested,” recounted Backer Thompson with a laugh. “We had to remind her that she wasn’t part of the study.”

Reuniting for research

Backer Thompson and her siblings are already planning for the second Saint Luke’s-style family reunion. The genetics team will return to Fargo to discuss the results of the blood tests.

Both Backer Thompson and her siblings feel the advantage of their special family reunion is twofold.

“It’s important for both ourselves and for cancer research,” she said. “If it can increase people’s knowledge about this rare syndrome, that’s a good thing.”

And who knows how many other brothers and sisters that may help.